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Gene Symbol ARID2
Synonyms BAF200 | CSS6 | p200 | SMARCF3
Gene Description ARID2, AT-rich interaction domain 2, is a member of the PBaF subunit (PMID: 32303701) of the SWI/SNF chromatin remodeling complex and is involved in cell-cycle activation (PMID: 29072391). Arid2 loss of function has been identified in hepatoceullar carcinoma (PMID: 22095441, PMID: 28238438), NSCLC (PMID: 23047306), papillary renal cell carcinoma (PMID: 25790038), oral squamous cell carcinoma (PMID: 29072391), urothelial carcinoma, and melanoma (PMID: 32303701).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A205T missense unknown ARID2 A205T does not lie within any known functional domains of the Arid2 protein (UniProt.org). A205T has been identified in sequencing studies (PMID: 25790038), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2021).
D248* nonsense loss of function - predicted ARID2 D248* results in a premature truncation of the Arid2 protein at amino acid 248 of 1835 (UniProt.org). Due to the loss of most of the functional domains (UniProt.org), D248* is predicted to lead to a loss of Arid2 protein function.
E1511K missense unknown ARID2 E1511K does not lie within any known functional domains of the Arid2 protein (UniProt.org). E1511K has not been characterized in the scientific literature and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2021).
E267* nonsense loss of function - predicted ARID2 E267* results in a premature truncation of the Arid2 protein at amino acid 267 of 1835 (UniProt.org). Due to the loss of most functional domains (UniProt.org), E267* is predicted to lead to a loss of Arid2 protein function.
E75* nonsense loss of function - predicted ARID2 E75* results in a premature truncation of the Arid2 protein at amino acid 75 of 1835 (UniProt.org). Due to the loss of most of the functional domains (UniProt.org), E75* is predicted to lead to a loss of Arid2 protein function.
G1281A missense unknown ARID2 G1281A does not lie within any known functional domains of the Arid2 protein (UniProt.org). G1281A has not been characterized in the scientific literature and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2021).
G1281W missense unknown ARID2 G1281W does not lie within any known functional domains of the Arid2 protein (UniProt.org). G1281W has not been characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Oct 2021).
G1425S missense unknown ARID2 G1425S does not lie within any known functional domains of the Arid2 protein (UniProt.org). G1425S has not been characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Oct 2021).
G1605fs frameshift unknown ARID2 G1605fs results in a change in the amino acid sequence of the Arid2 protein beginning at aa 1605 of 1835, likely resulting in premature truncation of the functional protein (UniProt.org). G1605fs has been identified in sequencing studies (PMID: 25790038), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2021).
G590R missense unknown ARID2 G590R lies within the RFX-type winged-helix DNA-binding domain of the Arid2 protein (UniProt.org). G590R has been identified in sequencing studies (PMID: 32107212), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2021).
H1017Y missense unknown ARID2 H1017Y does not lie within any known functional domains of the Arid2 protein (UniProt.org). H1017Y has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2021).
H1495fs frameshift unknown ARID2 H1495fs results in a change in the amino acid sequence of the Arid2 protein beginning at 1495 of 1835, likely resulting in premature truncation of the functional protein (UniProt.org). H1495fs has been identified in the scientific literature (PMID: 28105368), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2021).
inact mut unknown loss of function ARID2 inact mut indicates that this variant results in a loss of function of the Arid2 protein. However, the specific amino acid change has not been identified.
L1423fs frameshift unknown ARID2 L1423fs results in a change in the amino acid sequence of the Arid2 protein beginning at aa 1423 of 1835, likely resulting in premature truncation of the functional protein (UniProt.org). L1423fs has not been characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Oct 2021).
L57* nonsense loss of function - predicted ARID2 L57* results in a premature truncation of the Arid2 protein at amino acid 57 of 1835 (UniProt.org). Due to the loss of most functional domains (UniProt.org), L57* is predicted to lead to a loss of Arid2 protein function.
M1346V missense unknown ARID2 M1346V does not lie within any known functional domains of the Arid2 protein (UniProt.org). M1346V has not been characterized in the scientific literature and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2021).
mutant unknown unknown ARID2 mutant indicates an unspecified mutation in the ARID2 gene.
N67fs frameshift loss of function - predicted ARID2 N67fs results in a change in the amino acid sequence of the Arid2 protein beginning at aa 67 of 1835, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most functional domains (UniProt.org), N67fs is predicted to lead to a loss of Arid2 protein function.
P346L missense unknown ARID2 P346L does not lie within any known functional domains of the Arid2 protein (UniProt.org). P346L has been identified in sequencing studies (PMID: 25790038), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2021).
Q1016H missense unknown ARID2 Q1016H does not lie within any known functional domains of the Arid2 protein (UniProt.org). Q1016H has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2021).
Q819* nonsense unknown ARID2 Q819* results in a premature truncation of the Arid2 protein at amino acid 819 of 1835 (UniProt.org). Q819* has been identified in sequencing studies (PMID: 26674132), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Oct 2021).
S1157* nonsense loss of function - predicted ARID2 S1157* results in a premature truncation of the Arid2 protein at amino acid 1157 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (UniProt.org), S1157* is predicted to lead to a loss of Arid2 protein function.
S1327* nonsense unknown ARID2 S1327* results in a premature truncation of the Arid2 protein at amino acid 1327 of 1835 (UniProt.org). S1327* has been identified in sequencing studies (PMID: 26873401, PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2021).
S297F missense unknown ARID2 S297F does not lie within any known functional domains of the Arid2 protein (UniProt.org). S297F has been identified in sequencing studies (PMID: 26744134, PMID: 26343386, PMID: 26214590), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2021).
S297P missense unknown ARID2 S297P does not lie within any known functional domains of the Arid2 protein (UniProt.org). S297P has not been characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Oct 2021).
S319F missense unknown ARID2 S319F does not lie within any known functional domains of the Arid2 protein (UniProt.org). S319F has been identified in sequencing studies (PMID: 30531871), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Oct 2021).
S635* nonsense loss of function - predicted ARID2 S635* results in a premature truncation of the Arid2 protein at amino acid 635 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (UniProt.org), S635* is predicted to lead to a loss of Arid2 protein function.
W266* nonsense loss of function - predicted ARID2 W266* results in a premature truncation of the Arid2 protein at amino acid 266 of 1835 (UniProt.org). Due to the loss of most functional domains (UniProt.org), W266* is predicted to lead to a loss of Arid2 protein function.
wild-type none no effect Wild-type ARID2 indicates that no mutation has been detected within the ARID2 gene.