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Gene Symbol SETBP1
Synonyms MRD29 | SEB
Gene Description SETBP1, SET-binding protein, is part of a multiprotein epigenetic complex, which regulates target genes including MECOM (PMID: 29875417) and the tumor suppressor protein phosphatase type 2a (PP2A) (PMID: 11231286). Overexpression and gain of function mutations in Setbp1 have been linked to a variety of myeloproliferative diseases with worse clinical outcomes (PMID: 23892662, PMID: 28447248) and loss of function mutations have been reported in leukemia (PMID: 29875417).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1193T missense unknown SETBP1 A1193T does not lie within any known functional domain of the Setbp1 protein (PMID: 23222956). A1193T has been identified in sequencing studies (PMID: 27419369), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
A1385T missense unknown SETBP1 A1385T lies within the SET binding domain of the Setbp1 protein (PMID: 23222956). A1385T has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
A166T missense unknown SETBP1 A166T does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). A166T has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
A882V missense unknown SETBP1 A882V lies within the SKI homologous region (PMID: 23222956). A882V has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
A96V missense unknown SETBP1 A96V does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). A96V has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Jul 2019).
D1465N missense unknown SETBP1 D1465N lies within the SET binding domain of the Setbp1 protein (PMID: 23222956). D1465N has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
D412Y missense unknown SETBP1 D412Y does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). D412Y has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
D76N missense unknown SETBP1 D76N does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). D76N has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
D868N missense gain of function SETBP1 D868N lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). D868N confers a gain of function to the Setbp1 protein, as demonstrated by increased Setbp1 protein stability, enhanced cell proliferation, is transforming in culture (PMID: 23832012, PMID: 28346496), and when in combination with Asxl1 mutations, D868N increases cell transformation in cell culture and xenograft models through increased PP2A inhibition (PMID: 25306901).
D868Y missense unknown SETBP1 D868Y lies within the SKI homologous region (PMID: 23222956). D868Y has been identified in sequencing studies (PMID: 25716545, PMID: 23558523), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
E1196* nonsense unknown SETBP1 E1196* results in a premature truncation of the Setbp1 protein at amino acid 1196 of 1596 (UniProt.org). E1196* has not been characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
E1466D missense unknown SETBP1 E1466D lies within the SET-binding domain of the Setbp1 protein (PMID: 23222956). E1466D has been identified in sequencing studies (PMID: 27611742), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
E366K missense unknown SETBP1 E366K does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). E366K has not been characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
E481D missense unknown SETBP1 E481D does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). E481D has not been characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
E520* nonsense loss of function - predicted SETBP1 E520* results in a premature truncation of the Setbp1 protein at amino acid 520 of 1596 (UniProt.org). Due to the loss of all known functional domains (PMID: 23222956), E520* is predicted to lead to a loss of Setbp1 protein function.
E599K missense unknown SETBP1 E599K does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). E599K has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
E599Q missense unknown SETBP1 E599Q does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). E599Q has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
E858K missense unknown SETBP1 E858K lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). E585K has been identified in sequencing studies (PMID: 25306901, PMID: 23443343), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
E862K missense gain of function - predicted SETBP1 E862K lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). E862K is predicted to confer a gain of function to the Setbp1 protein, as demonstrated by increased Setbp1 protein stability in culture (PMID: 28346496).
G1105S missense unknown SETBP1 G1105S does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). G1105S has not been characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
G1105V missense unknown SETBP1 G1105V does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). G1105V has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
G1307V missense unknown SETBP1 G1307V does not lie within any known functional domains of the Setbp1 protein (UniProt.org). G1370V has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
G870S missense gain of function SETBP1 G870S lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). G870S confers a gain of function to the Setbp1 protein as demonstrated by increased protein stability, increased cell growth and decreased Pp2a activity in culture (PMID: 23222956, PMID: 29875417).
I871T missense gain of function SETBP1 I871T lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). I871T results in increased Setbp1 protein stability, enhanced cell proliferation, and is transforming in culture (PMID: 23832012, PMID: 28346496).
K118N missense unknown SETBP1 K118N does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). K118N has been identified in sequencing studies (PMID: 24132290), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
K591N missense unknown SETBP1 K591N does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). K591N has not been characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
K668T missense unknown SETBP1 K668T does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). K668T has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
K884N missense unknown SETBP1 K884N lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). K884N has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
K939M missense unknown SETBP1 K939M does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). K939M has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
L1147F missense unknown SETBP1 L1147F does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). L1147F has not been characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
L1381F missense unknown SETBP1 L1381F lies within the SET binding domain of the Setbp1 protein (PMID: 23222956). L1381F has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
mutant unknown unknown SETPB1 mutant indicates an unspecified mutation in the SETBP1 gene.
P1072H missense unknown SETBP1 P1072H does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). P1072H has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
P1130T missense unknown SETBP1 P1130T does not lie within any known functional domains of the Setbp1 protein (UniProt.org). P1130T has been identified in sequencing studies (PMID: 28533818), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
P1338S missense unknown SETBP1 P1338S lies within the SET binding domain of the Setbp1 protein (PMID: 23222956). P1338S has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
P563S missense unknown SETBP1 P563S does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). P563S has been identified in sequencing studies (PMID: 25759019), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
P696L missense unknown SETBP1 P696L does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). P696L has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
P742L missense unknown SETBP1 P742L lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). P742L has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
P983S missense unknown SETBP1 P983S does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). P983S has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
Q378H missense unknown SETBP1 Q378H does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). Q378H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R1008C missense unknown SETBP1 R1008C does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). R1008C has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R1019H missense unknown SETBP1 R1019H lies within the AT hook domain 2 of the Setbp1 protein (PMID: 23222956). R1019H has been identified in sequencing studies (PMID: 21798893), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R1262K missense unknown SETBP1 R1262K does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). R1262K has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R1262T missense unknown SETBP1 R1262T does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). R1262T has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R1412W missense unknown SETBP1 R1412W lies within SET binding domain of the Setbp1 protein (PMID: 23222956). R1412W has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R143C missense unknown SETBP1 R143C does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). R143C has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R143H missense unknown SETBP1 R143H does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). R143H has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R184K missense unknown SETBP1 R184K does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). R184K has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R530Q missense unknown SETBP1 R530Q dose not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). R530Q has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R531M missense unknown SETBP1 R531M does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). R531M has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R544* nonsense loss of function - predicted SETBP1 R544* results in a premature truncation of the Setbp1 protein at amino acid 544 of 1596 (UniProt.org). Due to the loss of all known functional domains (PMID: 23222956), R544* is predicted to lead to a loss of Setbp1 protein function.
R627H missense unknown SETBP1 R627H does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). R627H has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R727L missense unknown SETBP1 R727L lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). R727L has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R727Q missense unknown SETBP1 R727Q lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). R727Q has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R727W missense unknown SETBP1 R727W lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). R727W has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R942Q missense unknown SETBP1 R942Q does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). R942Q has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R942W missense unknown SETBP1 R942W does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). R942W has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R948C missense unknown SETBP1 R948C does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). R948C has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R948H missense unknown SETBP1 R948H does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). R948H has not been characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
R948S missense unknown SETBP1 R948S does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). R948S has not been characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
S1099Y missense unknown SETBP1 S1099Y does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). S1099Y has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
S1287L missense unknown SETBP1 S1287L does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). S1287L has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
S1337I missense unknown SETBP1 S1337I does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). S1337I has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
S1337T missense unknown SETBP1 S1337T does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). S1337T has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
S23C missense unknown SETBP1 S23C does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). S23C has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
S606F missense unknown SETBP1 S606F does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). S606F has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
S65L missense unknown SETBP1 S65L does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). S65L has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
S716G missense unknown SETBP1 S716G lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). S716G has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
S830F missense unknown SETBP1 S830F lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). S830F has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
S867G missense unknown SETBP1 S867G lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). S867G has been identified in the scientific literature (PMID: 31031980), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Jan 2020).
S867N missense unknown SETBP1 S867N lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). S867N has been identified in the scientific literature (PMID: 31031980), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Jan 2020).
S867R missense unknown SETBP1 S867R lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). S867R has been identified in the scientific literature (PMID: 31031980), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Jan 2020).
S869N missense gain of function - predicted SETBP1 S869N lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). S869N is predicted to confer a gain of function to the Setbp1 protein, as demonstrated by increased Setbp1 protein stability in culture (PMID: 28346496).
S886L missense unknown SETBP1 S886L lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). S886L has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
S944N missense unknown SETBP1 S944N does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). S994N has been identified in sequencing studies (PMID: 25583476), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
T1308M missense unknown SETBP1 T1308M lies within the SET binding domain of the Setbp1 binding protein (PMID: 23222956). T1308M has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
T195M missense unknown SETBP1 T195M does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). T195M has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
T508M missense unknown SETBP1 T508M does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). T508M has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
T852M missense unknown SETBP1 T852M lies within the SKI homologous region of the Setbp1 protein (PMID: 23222956). T852M has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
V1101I missense unknown SETBP1 V1101I does not lie within any known functional domains of the Setbp1 protein (UniProt.org). V1101I is a common Setbp1 polymorphism, but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PMID: 21037274, PubMed, Sep 2018).
V231L missense unknown SETBP1 V231L does not lie within any known functional domains of the Setbp1 protein (UniProt.org). V231L has been identified in sequencing studies (PMID: 27534895), but has not been biochemically characterized and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
V355F missense unknown SETBP1 V355F does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). V355F has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
V355I missense unknown SETBP1 V355I does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). V355I has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
V996M missense unknown SETBP1 V996M does not lie within any known functional domains of the Setbp1 protein (PMID: 23222956). V996M has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).
W222* nonsense loss of function - predicted SETBP1 W222* results in a premature truncation of the Setbp1 protein at amino acid 222 of 1596 (UniProt.org). Due to the loss of all known functional domains of the Setbp1 protein (PMID: 23222956), W222* is predicted to lead to a loss of Setbp1 protein function.
Y1263* nonsense unknown SETBP1 Y1263* results in a premature truncation of the Setbp1 protein at amino acid 1263 of 1596 (UniProt.org). Y1263* has not been characterized in the scientific literature and therefore, its effect on Setbp1 protein function is unknown (PubMed, Sep 2018).