Gene Detail

Gene Symbol STAG2
Synonyms bA517O1.1 | SA-2 | SA2 | SCC3B
Gene Description STAG2, cohesin subunit SA-2, functions as part of the cohesin complex to regulate spindle formation and sister chromatid association in mitosis (PMID: 12034751, PMID: 24854081, PMID: 29175904). Somatic STAG2 mutations have been reported in glioblastoma, Ewing's sarcoma, bladder cancer, and melanoma, and loss of Stag2 expression has been demonstrated in a variety of other tumor types, including bladder cancer (PMID: 22668012, PMID: 28627627, PMID: 27207471, PMID: 29954776).
Entrez Id 10735
Chromosome X
Map Location Xq25
Canonical Transcript NM_001282418

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
E276D missense unknown STAG2 E276D does not lie within any known functional domains of the Stag2 protein (UniProt.org). E276D has been identified in sequencing studies (PMID: 22895193, PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
D385Y missense unknown STAG2 D385Y does not lie within any known functional domains of the Stag2 protein (UniProt.org). D385Y has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R370E missense no effect - predicted STAG2 R370E lies within the SCD domain of the Stag2 protein (UniProt.org). R370E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
D1055N missense unknown STAG2 D1055N does not lie within any known functional domains of the Stag2 protein (UniProt.org). D1055N has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R654I missense unknown STAG2 R654I does not lie within any known functional domains of the Stag2 protein (UniProt.org). R654I has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R298C missense unknown STAG2 R298C lies within the SCD domain of the Stag2 protein (UniProt.org). R298C has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
H698R missense unknown STAG2 H698R does not lie within any known functional domains of the Stag2 protein (UniProt.org). H698R has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
T966K missense unknown STAG2 T966K does not lie within any known functional domains of the Stag2 protein (UniProt.org). T966K has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
C308R missense unknown STAG2 C308R lies within the SCD domain of the Stag2 protein (UniProt.org). C308R has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
K949N missense unknown STAG2 K949N does not lie within any known functional domains of the Stag2 protein (UniProt.org). K949N has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
I522F missense unknown STAG2 I522F does not lie within any known functional domains of the Stag2 protein (UniProt.org). I522F has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R69Q missense unknown STAG2 R69Q does not lie within any known functional domains of the Stag2 protein (UniProt.org). R69Q has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
T626fs missense loss of function - predicted STAG2 T626fs results in a change in the amino acid sequence of the Stag2 protein beginning at aa 626 of 1231, likely resulting in premature truncation of the functional protein (UniProt.org). T626fs has not been characterized, however, due to the effects of Stag2 truncating mutations downstream of T626 (PMID: 26871722, PMID: 21852505), T626fs is predicted to lead to a loss of Stag2 function.
W102* nonsense loss of function - predicted STAG2 W102* results in a premature truncation of the Stag2 protein at amino acid 102 of 1231 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W102* is predicted to lead to a loss of Stag2 protein function.
R184W missense unknown STAG2 R184W does not lie within any known functional domains of the Stag2 protein (UniProt.org). R184W has been identified in sequencing studies (PMID: 21720365, PMID: 23856246), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
A532V missense unknown STAG2 A532V does not lie within any known functional domains of the Stag2 protein (UniProt.org). A532V has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R861K missense unknown STAG2 R861K does not lie within any known functional domains of the Stag2 protein (UniProt.org). R861K has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
E251A missense unknown STAG2 E251A does not lie within any known functional domains of the Stag2 protein (UniProt.org). E251A has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R1045* nonsense unknown STAG2 R1045* results in a premature truncation of the Stag2 protein at amino acid 1045 of 1231 (UniProt.org). R1045* has been identified in sequencing studies (PMID: 24270882), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
Q593* nonsense loss of function - predicted STAG2 Q593* results in a premature truncation of the Stag2 protein at amino acid 593 of 1231 (UniProt.org). Q593* has not been characterized, however, due to the effects of Stag2 truncating mutations downstream of Q593 (PMID: 26871722, PMID: 21852505), and altered cell proliferation in Q593* expressing cell lines (PMID: 29649003), Q593* is predicted to lead to a loss of Stag2 protein function.
R259* nonsense loss of function - predicted STAG2 R259* results in a premature truncation of the Stag2 protein at amino acid 259 of 1231 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R259* is predicted to lead to a loss of Stag2 protein function.
R370W missense unknown STAG2 R370W lies within the SCD domain of the Stag2 protein (UniProt.org). R370W has been identified in sequencing studies (PMID: 22722839, PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
S105L missense unknown STAG2 S105L does not lie within any known functional domains of the Stag2 protein (UniProt.org). S105L has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
E1005D missense unknown STAG2 E1005D does not lie within any known functional domains of the Stag2 protein (UniProt.org). E1005D has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
N412H missense unknown STAG2 N412H does not lie within any known functional domains of the Stag2 protein (UniProt.org). N412H has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
Y479A missense no effect - predicted STAG2 Y479A does not lie within any known functional domains of the Stag2 protein (UniProt.org). Y479A is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
K901E missense no effect - predicted STAG2 K901E does not lie within any known functional domains of the Stag2 protein (UniProt.org). K901E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
R1045Q missense unknown STAG2 R1045Q does not lie within any known functional domains of the Stag2 protein (UniProt.org). R1045Q has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R110* nonsense loss of function - predicted STAG2 R110* results in a premature truncation of the Stag2 protein at amino acid N of 1231 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R110* is predicted to lead to a loss of Stag2 protein function.
E276K missense no effect - predicted STAG2 E276K does not lie within any known functional domains of the Stag2 protein (UniProt.org). E276K is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
M796A missense no effect - predicted STAG2 M796A does not lie within any known functional domains of the Stag2 protein (UniProt.org). M796A is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
P160L missense unknown STAG2 P160L does not lie within any known functional domains of the Stag2 protein (UniProt.org). P160L has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
I910R missense unknown STAG2 I910R does not lie within any known functional domains of the Stag2 protein (UniProt.org). I910R has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
Q1029* nonsense unknown STAG2 Q1029* results in a premature truncation of the Stag2 protein at amino acid 1029 of 1231 (UniProt.org). Q1029* has been identified in sequencing studies (PMID: 24270882), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
C527F missense unknown STAG2 C527F does not lie within any known functional domains of the Stag2 protein (UniProt.org). C527F has been identified in sequencing studies (PMID: 27323954), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
H217R missense unknown STAG2 H217R does not lie within any known functional domains of the Stag2 protein (UniProt.org). H217R has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
A300V missense unknown STAG2 A300V lies within the SCD domain of the Stag2 protein (UniProt.org). A300V has been identified in sequencing studies (PMID: 24997986, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R560E missense no effect - predicted STAG2 R560E does not lie within any known functional domains of the Stag2 protein (UniProt.org). R560E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
H832R missense unknown STAG2 H832R does not lie within any known functional domains of the Stag2 protein (UniProt.org). H832R has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
D193N missense loss of function - predicted STAG2 D193N does not lie within any known functional domains of the Stag2 protein (UniProt.org). D193N is predicted to confer a loss of function to the Stag2 protein as demonstrated by decreased binding to Rad21 and Smc1a in culture (PMID: 27500726).
K887E missense unknown STAG2 K887E does not lie within any known functional domains of the Stag2 protein (UniProt.org). K887E has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R862I missense unknown STAG2 R862I does not lie within any known functional domains of the Stag2 protein (UniProt.org). R862I has been identified in sequencing studies (PMID: 23856246), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
V181A missense unknown STAG2 V181A does not lie within any known functional domains of the Stag2 protein (UniProt.org). V181A has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
L405I missense unknown STAG2 L405I does not lie within any known functional domains of the Stag2 protein (UniProt.org). L405I has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
A998T missense unknown STAG2 A998T does not lie within any known functional domains of the Stag2 protein (UniProt.org). A998T has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
V181L missense unknown STAG2 V181L does not lie within any known functional domains of the Stag2 protein (UniProt.org). V181L has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R137I missense unknown STAG2 R137I does not lie within any known functional domains of the Stag2 protein (UniProt.org). R137I has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
L366A missense no effect - predicted STAG2 L366A lies within the SCD domain of the Stag2 protein (UniProt.org). L366A is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
R370G missense unknown STAG2 R370G lies within the SCD domain of the Stag2 protein (UniProt.org). R370G has been identified in sequencing studies (PMID: 22722839), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
I829N missense unknown STAG2 I829N does not lie within any known functional domains of the Stag2 protein (UniProt.org). I829N has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
amp none no effect STAG2 amplification indicates an increased number of copies of the STAG2 gene. However, the mechanism causing the increase is unspecified.
R213E missense no effect - predicted STAG2 R213E does not lie within any known functional domains of the Stag2 protein (UniProt.org). R213E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
R908E missense no effect - predicted STAG2 R908E does not lie within any known functional domains of the Stag2 protein (UniProt.org). R908E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
S156G missense unknown STAG2 S156G does not lie within any known functional domains of the Stag2 protein (UniProt.org). S156G has been identified in sequencing studies (PMID: 23856246), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
K346E missense no effect - predicted STAG2 K346E lies within the SCD domain of the Stag2 protein (UniProt.org). K346E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
E342K missense no effect - predicted STAG2 E342K does not lie within any known functional domains of the Stag2 protein (UniProt.org). E342K is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
I855T missense unknown STAG2 I855T does not lie within any known functional domains of the Stag2 protein (UniProt.org). I855T has been identified in sequencing studies (PMID: 21822268, PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
V465F missense unknown STAG2 V465F does not lie within any known functional domains of the Stag2 protein (UniProt.org). V465F has been identified in sequencing studies (PMID: 27923066), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
E134D missense unknown STAG2 E134D does not lie within any known functional domains of the Stag2 protein (UniProt.org). E134D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R216* nonsense loss of function - predicted STAG2 R216* results in a premature truncation of the Stag2 protein at amino acid 216 of 1231 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R216* is predicted to lead to a loss of Stag2 protein function.
D486N missense unknown STAG2 D486N does not lie within any known functional domains of the Stag2 protein (UniProt.org). D486N has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
D793K missense loss of function STAG2 D793K lies within a site IV binding region to Rad21 within the Stag2 protein (PMID: 25173175). D793K confers a loss of function on the Stag2 protein as demonstrated by loss of Rad21 and Sgo1 binding and the inability to rescue premature sister- chromatid separation and mitotic arrest (PMID: 25173175).
H73Y missense unknown STAG2 H73Y does not lie within any known functional domains of the Stag2 protein (UniProt.org). H73Y has been identified in sequencing studies (PMID: 29501732), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
E1005K missense no effect - predicted STAG2 E1005K does not lie within any known functional domains of the Stag2 protein (UniProt.org). E1005K is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
L858P missense unknown STAG2 L858P does not lie within any known functional domains of the Stag2 protein (UniProt.org). L858P has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
V620L missense unknown STAG2 V620L does not lie within any known functional domains of the Stag2 protein (UniProt.org). V620L has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R298E missense loss of function STAG2 R298E lies within an SCD domain of the Stag2 protein (UniProt.org). R298E confers a loss of function to the Stag2 protein as demonstrated by loss of Sgo1 binding and failure to rescue mitotic arrest in cell culture (PMID: 25173175).
I201M missense unknown STAG2 I201M does not lie within any known functional domains of the Stag2 protein (UniProt.org). I201M has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R1012* nonsense unknown STAG2 R1012* results in a premature truncation of the Stag2 protein at amino acid 1012 of 1231 (UniProt.org). R1012* has been identified in sequencing studies (PMID: 24121792, PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
D610G missense unknown STAG2 D610G does not lie within any known functional domains of the Stag2 protein (UniProt.org). D610G has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
W706G missense unknown STAG2 W706G does not lie within any known functional domains of the Stag2 protein (UniProt.org). W706G has been identified in sequencing studies (PMID: 24662767), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
L237I missense unknown STAG2 L237I does not lie within any known functional domains of the Stag2 protein (UniProt.org). L237I has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
P572S missense unknown STAG2 P572S does not lie within any known functional domains of the Stag2 protein (UniProt.org). P572S has been identified in sequencing studies (PMID: 25759019), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
Q278E missense unknown STAG2 Q278E does not lie within any known functional domains of the Stag2 protein (UniProt.org). Q278E has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R439H missense unknown STAG2 R439H does not lie within any known functional domains of the Stag2 protein (UniProt.org). R439H has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
E606A missense unknown STAG2 E606A does not lie within any known functional domains of the Stag2 protein (UniProt.org). E606A has been identified in sequencing studies (PMID: 23856246), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
W334A missense loss of function STAG2 W334A lies within an SCD domain of the Stag2 protein (UniProt.org). W334A confers a loss of function to the Stag2 protein as demonstrated by loss of Sgo1 binding and failure to rescue mitotic arrest in cell culture (PMID: 25173175).
Y636* nonsense loss of function - predicted STAG2 Y636* results in a premature truncation of the Stag2 protein at amino acid 636 of 1231 (UniProt.org). Y636* has not been characterized, however, due to the effects of Stag2 truncating mutations downstream of Y636 (PMID: 26871722, PMID: 21852505), Y636* is predicted to lead to a loss of Stag2 protein function.
N357fs frameshift loss of function STAG2 N357fs results in a change in the amino acid sequence of the Stag2 protein beginning at aa 357 of 1231, likely resulting in premature truncation of the functional protein (UniProt.org). N357fs results in a loss of Stag2 protein expression and defective sister chromatid cohesion and is associated with chromosomal instability in cell culture (PMID: 21852505).
K330E missense loss of function - predicted STAG2 K330E lies within an SCD domain of the Stag2 protein (UniProt.org). K330E is predicted to confer a loss of function to the Stag2 protein as demonstrated by loss of Sgo1 binding (PMID: 25173175).
K363E missense no effect - predicted STAG2 K363E lies within the SCD domain of the Stag2 protein (UniProt.org). K363E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
W706L missense unknown STAG2 W706L does not lie within any known functional domains of the Stag2 protein (UniProt.org). W706L has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
E523K missense no effect - predicted STAG2 E523K does not lie within any known functional domains of the Stag2 protein (UniProt.org). E523K is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
S1058* nonsense unknown STAG2 S1058* results in a premature truncation of the Stag2 protein at amino acid 1058 of 1231 (UniProt.org). S1058* has been identified in sequencing studies (PMID: 21822268), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
T1027A missense unknown STAG2 T1027A does not lie within any known functional domains of the Stag2 protein (UniProt.org). T1027A has been identified in sequencing studies (PMID: 22495314), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
S704L missense unknown STAG2 S704L does not lie within any known functional domains of the Stag2 protein (UniProt.org). S704L has been identified in sequencing studies (PMID: 29501732), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
L235Q missense unknown STAG2 L235Q does not lie within any known functional domains of the Stag2 protein (UniProt.org). L235Q has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
S219G missense unknown STAG2 S219G does not lie within any known functional domains of the Stag2 protein (UniProt.org). S219G has been identified in sequencing studies (PMID: 23797736), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
C869R missense unknown STAG2 C869R does not lie within any known functional domains of the Stag2 protein (UniProt.org). C869R has been identified in sequencing studies (PMID: 22820256), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
E1107* nonsense unknown STAG2 E1107* results in a premature truncation of the Stag2 protein at amino acid 1107 of 1231 (UniProt.org). E1107* has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
mutant unknown unknown STAG2 mutant indicates an unspecified mutation in the STAG2 gene.
L526F missense unknown STAG2 L526F does not lie within any known functional domains of the Stag2 protein (UniProt.org). L526F has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R954H missense unknown STAG2 R954H does not lie within any known functional domains of the Stag2 protein (UniProt.org). R954H has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
Y414F missense unknown STAG2 Y414F does not lie within any known functional domains of the Stag2 protein (UniProt.org). Y414F has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
L571P missense unknown STAG2 L571P does not lie within any known functional domains of the Stag2 protein (UniProt.org). L571P has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
K290E missense no effect - predicted STAG2 K290E does not lie within any known functional domains of the Stag2 protein (UniProt.org). K290E is predicted to have no effect on Stag2 protein function as demonstrated by Rad21 and Sgo1 binding similar to wild-type in in-vitro assays (PMID: 25173175).
L997F missense unknown STAG2 L997F does not lie within any known functional domains of the Stag2 protein (UniProt.org). L997F has not been characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R305L missense unknown STAG2 R305L lies within the SCD domain of the Stag2 protein (UniProt.org). R305L has been identified in sequencing studies (PMID: 21822268), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
P987Q missense unknown STAG2 P987Q does not lie within any known functional domains of the Stag2 protein (UniProt.org). P987Q has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
E675D missense unknown STAG2 E675D does not lie within any known functional domains of the Stag2 protein (UniProt.org). E675D has been identified in sequencing studies (PMID: 23917401), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
V783F missense unknown STAG2 V783F does not lie within any known functional domains of the Stag2 protein (UniProt.org). V783F has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R1033* nonsense unknown STAG2 R1033* results in a premature truncation of the Stag2 protein at amino acid 1033 of 1231 (UniProt.org). R1033* has been identified in sequencing studies (PMID: 24270882), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R213T missense unknown STAG2 R213T does not lie within any known functional domains of the Stag2 protein (UniProt.org). R213T has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
Y297A missense loss of function STAG2 Y297A lies within an SCD domain of the Stag2 protein (UniProt.org). Y297A confers a loss of function to the Stag2 protein as demonstrated by loss of Sgo1 binding and failure to rescue mitotic arrest in cell culture (PMID: 25173175).
A998V missense unknown STAG2 A998V does not lie within any known functional domains of the Stag2 protein (UniProt.org). A998V has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R252Q missense unknown STAG2 R252Q does not lie within any known functional domains of the Stag2 protein (UniProt.org). R252Q has been identified in sequencing studies (PMID: 28481359, PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
P987T missense unknown STAG2 P987T does not lie within any known functional domains of the Stag2 protein (UniProt.org). P987T has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R541K missense unknown STAG2 R541K does not lie within any known functional domains of the Stag2 protein (UniProt.org). R541K has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
D153N missense unknown STAG2 D153N does not lie within any known functional domains of the Stag2 protein (UniProt.org). D153N has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R560W missense unknown STAG2 R560W does not lie within any known functional domains of the Stag2 protein (UniProt.org). R560W has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
M224I missense unknown STAG2 M224I does not lie within any known functional domains of the Stag2 protein (UniProt.org). M224I has been identified in sequencing studies (PMID: 28481359, PMID: 28098136), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
E727D missense unknown STAG2 E727D does not lie within any known functional domains of the Stag2 protein (UniProt.org). E727D has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
D1197N missense unknown STAG2 D1197N does not lie within any known functional domains of the Stag2 protein (UniProt.org). D1197N has been identified in sequencing studies (PMID: 24030381), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
dec exp none no effect STAG2 dec exp indicates decreased expression of the Stag2 protein. However, the mechanism causing the decreased expression is unspecified.
E721V missense unknown STAG2 E721V does not lie within any known functional domains of the Stag2 protein (UniProt.org). E721V has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R614* nonsense loss of function - predicted STAG2 R614* results in a premature truncation of the Stag2 protein at amino acid 614 of 1231 (UniProt.org). R614* has not been characterized, however, due to the effects of Stag2 truncating mutations downstream of R614 (PMID: 26871722, PMID: 21852505), R614* is predicted to lead to a loss of Stag2 function.
K870E missense loss of function - predicted STAG2 K870E does not lie within any known functional domains of the Stag2 protein (UniProt.org). K870E is predicted to confer a loss of function to the Stag2 protein as demonstrated by reduced Sgo1 binding (PMID: 25173175).
L961R missense unknown STAG2 L961R does not lie within any known functional domains of the Stag2 protein (UniProt.org). L961R has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
E950* nonsense unknown STAG2 E950* results in a premature truncation of the Stag2 protein at amino acid 950 of 1231 (UniProt.org). E950* has been identified in sequencing studies (PMID: 28481359, PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
L221M missense unknown STAG2 L221M does not lie within any known functional domains of the Stag2 protein (UniProt.org). L221M has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
K92N missense unknown STAG2 K92N does not lie within any known functional domains of the Stag2 protein (UniProt.org). K92N has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R216Q missense unknown STAG2 R216Q does not lie within any known functional domains of the Stag2 protein (UniProt.org). R216Q has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
Q185H missense unknown STAG2 Q185H does not lie within any known functional domains of the Stag2 protein (UniProt.org). Q185H has not been characterized in the scientific literature and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
R604* nonsense loss of function - predicted STAG2 R604* results in a premature truncation of the Stag2 protein at amino acid 604 of 1231 (UniProt.org). R604* has not been characterized, however, due to the effects of Stag2 truncating mutations downstream of R604 (PMID: 26871722, PMID: 21852505), R604* is predicted to lead to a loss of Stag2 function.
Y331A missense loss of function STAG2 Y331A lies within an SCD domain of the Stag2 protein (UniProt.org). Y331A confers a loss of function to the Stag2 protein as demonstrated by loss of Sgo1 binding and failure to rescue mitotic arrest in cell culture (PMID: 25173175).
R370Q missense unknown STAG2 R370Q lies within the SCD domain of the Stag2 protein (UniProt.org). R370Q has been identified in sequencing studies (PMID: 24056718, PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stag2 protein function is unknown (PubMed, Aug 2018).
S653* nonsense loss of function STAG2 S653* results in a premature truncation of the Stag2 protein at amino acid 653 of 1231 (UniProt.org). S653* results in a loss of Stag2 protein expression and defective sister chromatid cohesion, and is associated with chromosomal instability in cell culture (PMID: 21852505).
Molecular Profile Protein Effect Treatment Approaches
STAG2 E276D unknown
STAG2 D385Y unknown
STAG2 R370E no effect - predicted
STAG2 D1055N unknown
STAG2 R654I unknown
STAG2 R298C unknown
STAG2 H698R unknown
STAG2 T966K unknown
STAG2 C308R unknown
STAG2 K949N unknown
STAG2 I522F unknown
STAG2 R69Q unknown
STAG2 T626fs loss of function - predicted
STAG2 W102* loss of function - predicted
STAG2 R184W unknown
STAG2 A532V unknown
STAG2 R861K unknown
STAG2 E251A unknown
STAG2 R1045* unknown
STAG2 Q593* loss of function - predicted
STAG2 R259* loss of function - predicted
STAG2 R370W unknown
STAG2 S105L unknown
STAG2 E1005D unknown
STAG2 N412H unknown
STAG2 Y479A no effect - predicted
STAG2 K901E no effect - predicted
STAG2 R1045Q unknown
STAG2 R110* loss of function - predicted
STAG2 E276K no effect - predicted
STAG2 M796A no effect - predicted
STAG2 P160L unknown
STAG2 I910R unknown
STAG2 Q1029* unknown
STAG2 C527F unknown
STAG2 H217R unknown
STAG2 A300V unknown
STAG2 R560E no effect - predicted
STAG2 H832R unknown
STAG2 D193N loss of function - predicted
STAG2 K887E unknown
STAG2 R862I unknown
STAG2 V181A unknown
STAG2 L405I unknown
STAG2 A998T unknown
STAG2 V181L unknown
STAG2 R137I unknown
STAG2 L366A no effect - predicted
STAG2 R370G unknown
STAG2 I829N unknown
STAG2 amp no effect
STAG2 R213E no effect - predicted
STAG2 R908E no effect - predicted
STAG2 S156G unknown
STAG2 K346E no effect - predicted
STAG2 E342K no effect - predicted
STAG2 I855T unknown
STAG2 V465F unknown
STAG2 E134D unknown
STAG2 R216* loss of function - predicted
STAG2 D486N unknown
STAG2 D793K loss of function
STAG2 H73Y unknown
STAG2 E1005K no effect - predicted
STAG2 L858P unknown
STAG2 V620L unknown
STAG2 R298E loss of function
STAG2 I201M unknown
STAG2 R1012* unknown
STAG2 D610G unknown
STAG2 W706G unknown
STAG2 L237I unknown
STAG2 P572S unknown
STAG2 Q278E unknown
STAG2 R439H unknown
STAG2 E606A unknown
STAG2 W334A loss of function
STAG2 Y636* loss of function - predicted
STAG2 N357fs loss of function
STAG2 K330E loss of function - predicted
STAG2 K363E no effect - predicted
STAG2 W706L unknown
STAG2 E523K no effect - predicted
STAG2 S1058* unknown
STAG2 T1027A unknown
STAG2 S704L unknown
STAG2 L235Q unknown
STAG2 S219G unknown
STAG2 C869R unknown
STAG2 E1107* unknown
STAG2 mutant unknown
STAG2 L526F unknown
STAG2 R954H unknown
STAG2 Y414F unknown
STAG2 L571P unknown
STAG2 K290E no effect - predicted
STAG2 L997F unknown
STAG2 R305L unknown
STAG2 P987Q unknown
STAG2 E675D unknown
STAG2 V783F unknown
STAG2 R1033* unknown
STAG2 R213T unknown
STAG2 Y297A loss of function
STAG2 A998V unknown
STAG2 R252Q unknown
STAG2 P987T unknown
STAG2 R541K unknown
STAG2 D153N unknown
STAG2 R560W unknown
STAG2 M224I unknown
STAG2 E727D unknown
STAG2 D1197N unknown
NRAS mut STAG2 dec exp
STAG2 dec exp no effect
BRAF mut STAG2 dec exp
STAG2 E721V unknown
STAG2 R614* loss of function - predicted
STAG2 K870E loss of function - predicted
STAG2 L961R unknown
STAG2 E950* unknown
STAG2 L221M unknown
STAG2 K92N unknown
STAG2 R216Q unknown
STAG2 Q185H unknown
STAG2 R604* loss of function - predicted
STAG2 Y331A loss of function
STAG2 R370Q unknown
STAG2 S653* loss of function
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
STAG2 N357fs glioblastoma multiforme sensitive Olaparib + Temozolomide Preclinical - Cell culture Actionable In a preclinical study, glioblastoma cells harboring a STAG2 mutation (reported as STAG2 N357fs, PMID: 21852505) demonstrated increased sensitivity to the combination of Lynparza (olaparib) and Temodar (temozolomide) compared to isogenic cells with wild-type STAG2 in culture (PMID: 24356817). 21852505 24356817
STAG2 N357fs glioblastoma multiforme sensitive Rucaparib Preclinical - Cell culture Actionable In a preclinical study, a glioblastoma cell line harboring a STAG2 mutation (reported as STAG2 N357fs, PMID: 21852505), demonstrated increased sensitivity to treatment with Rubraca (rucaparib) in culture compared to isogenic cells with wild-type STAG2 (PMID: 24356817). 21852505 24356817
STAG2 N357fs glioblastoma multiforme sensitive Veliparib Preclinical - Cell culture Actionable In a preclinical study, a glioblastoma cell line harboring a STAG2 mutation (reported as STAG2 N357fs, PMID: 21852505) demonstrated increased sensitivity to treatment with Veliparib (ABT-888) in culture compared to isogenic cells with wild-type STAG2 (PMID: 24356817). 21852505 24356817
STAG2 N357fs glioblastoma multiforme sensitive Camptothecin + Olaparib Preclinical - Cell culture Actionable In a preclinical study, glioblastoma cells harboring a STAG2 mutation (reported as STAG2 N357fs, PMID: 21852505) demonstrated increased sensitivity to the combination of Lynparza (olaparib) and camptothecin compared to isogenic cells with wild-type STAG2 in culture (PMID: 24356817). 21852505 24356817
STAG2 N357fs glioblastoma multiforme sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, a glioblastoma cell line harboring a STAG2 mutation (reported as STAG2 N357fs, PMID: 21852505) demonstrated increased sensitivity to treatment with Lynparza (olaparib) in culture, resulting in decreased proliferation and colony formation, and increased DNA damage compared to isogenic cells with wild-type STAG2 (PMID: 24356817). 24356817
STAG2 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic STAG2 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
NRAS mut STAG2 dec exp melanoma decreased response Trametinib Preclinical - Cell culture Actionable In a preclinical study, decreasing Stag2 expression level through shRNA knockdown in NRAS mutated melanoma cell lines resulted in decreased response to Mekinist (trametinib) in culture (PMID: 27500726). 27500726
STAG2 dec exp colorectal cancer sensitive Olaparib Preclinical Actionable In a preclinical study, colorectal cancer cells with knockdown of STAG2 expression demonstrated increased sensitivity to treatment with Lynparza (olaparib) in culture (PMID: 24356817). 24356817
BRAF mut STAG2 dec exp melanoma decreased response Dabrafenib Preclinical - Cell culture Actionable In a preclinical study, decreasing Stag2 expression level through shRNA knockdown in BRAF mutated melanoma cell lines resulted in decreased response to Tafinlar (dabrafenib) in culture (PMID: 27500726). 27500726
BRAF mut STAG2 dec exp melanoma decreased response Trametinib + Dabrafenib Preclinical - Cell culture Actionable In a preclinical study, decreasing Stag2 expression level through shRNA knockdown in BRAF mutated melanoma cells resulted in decreased response to Mekinist (trametinib) and Tafinlar (dabrafenib) combination treatment in culture (PMID: 27500726). 27500726
BRAF mut STAG2 dec exp melanoma decreased response Trametinib Preclinical - Cell culture Actionable In a preclinical study, decreasing Stag2 expression level through shRNA knockdown in BRAF mutated melanoma cells resulted in decreased response to Mekinist (trametinib) in culture (PMID: 27500726). 27500726
BRAF mut STAG2 dec exp melanoma decreased response Vemurafenib Preclinical - Cell line xenograft Actionable In a preclinical study, decreasing Stag2 expression level through shRNA knockdown in BRAF mutated melanoma cell lines resulted in decreased response to Zelboraf (vemurafenib) both in culture and in cell line xenograft models (PMID: 27500726). 27500726
STAG2 S653* glioblastoma multiforme sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, a glioblastoma cell line harboring a STAG2 mutation (reported as STAG2 S653*, PMID: 21852505) demonstrated increased sensitivity to treatment with Lynparza (olaparib) in culture compared to isogenic cells with wild-type STAG2 (PMID: 24356817). 21852505 24356817
STAG2 S653* glioblastoma multiforme sensitive Camptothecin Preclinical - Cell culture Actionable In a preclinical study, glioblastoma cells harboring a STAG2 mutation (reported as STAG2 S653*, PMID: 21852505) demonstrated increased sensitivity to the combination of Lynparza (olaparib) and camptothecin compared to isogenic cells with wild-type STAG2 in culture (PMID: 24356817). 24356817 21852505