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Gene Symbol ARID2
Synonyms BAF200 | CSS6 | p200 | SMARCF3 | ZIPZAP
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).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
196528 12 12q12 NM_152641 Tumor suppressor (PMID: 30606230)

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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, Jun 2024).
ARID2 - ALK fusion unknown ARID2-ALK results from the fusion of ARID2 and ALK (PMID: 35144623). ARID2-ALK has been identified in lung adenocarcinoma (PMID: 35144623), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, May 2024).
D1688H missense unknown ARID2 D1688H does not lie within any known functional domains of the Arid2 protein (UniProt.org). D1688H has not been characterized in the scientific literature and therefore, its effect on Arid2 protein function is unknown (PubMed, Jul 2024).
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 the C2H2-type zinc finger domain (PMID: 32071245), D248* is predicted to lead to a loss of Arid2 protein function.
del deletion loss of function ARID2 del indicates a deletion of the ARID2 gene.
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, Jun 2024).
E1656K missense unknown ARID2 E1656K lies within the C2H2-type zinc finger domain of the Arid2 protein (UniProt.org). E1656K has not been characterized in the scientific literature and therefore, its effect on Arid2 protein function is unknown (PubMed, Jun 2024).
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 the C2H2-type zinc finger domain (PMID: 32071245), 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 the C2H2-type zinc finger domain (PMID: 32071245), 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, Jun 2024).
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, May 2024).
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, May 2024).
G1605fs frameshift loss of function - predicted 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). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), G1605fs is predicted to lead to a loss of Arid2 protein function.
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, Jun 2024).
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, Jun 2024).
H1495fs frameshift loss of function - predicted 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). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), H1495fs is predicted to lead to a loss of Arid2 protein function.
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.
K581* nonsense loss of function - predicted ARID2 K581* results in a premature truncation of the Arid2 protein at amino acid 581 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), K581* is predicted to lead to a loss of Arid2 protein function.
L1423fs frameshift loss of function - predicted 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). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), L1423fs is predicted to lead to a loss of Arid2 protein function.
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 the C2H2-type zinc finger domain (PMID: 32071245), 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, Jun 2024).
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 the C2H2-type zinc finger domain (PMID: 32071245), 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, Jun 2024).
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, Jun 2024).
Q819* nonsense loss of function - predicted ARID2 Q819* results in a premature truncation of the Arid2 protein at amino acid 819 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), Q819* is predicted to lead to a loss of Arid2 protein function.
R1273* nonsense loss of function ARID2 R1273* results in a premature truncation of the Arid2 protein at amino acid 1273 of 1835 (UniProt.org). R1273* fails to repress Snail, as indicated by increased expression and promoter activity of Snail, and results in failure to interact with Dnmt1, decreased DNMT1-mediated promoter methylation of Snail, and decreased inhibition of migration and invasion in cultured cells (PMID: 32071245).
R1769Q missense unknown ARID2 R1769Q does not lie within any known functional domains of the Arid2 protein (UniProt.org). R1769Q has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, Mar 2024).
R314C missense unknown ARID2 R314C lies within the LXXLL motif of the Arid2 protein (UniProt.org). R314C has been identified in sequencing studies (PMID: 26950094, PMID: 27149842, PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2024).
R314S missense unknown ARID2 R314S lies within the LXXLL motif of the Arid2 protein (UniProt.org). R314S has been identified in sequencing studies (PMID: 33556149), but has not been biochemically characterized and therefore, its effect on Arid2 protein function is unknown (PubMed, May 2024).
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 (PMID: 32071245), S1157* is predicted to lead to a loss of Arid2 protein function.
S1327* nonsense loss of function - predicted ARID2 S1327* results in a premature truncation of the Arid2 protein at amino acid 1327 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), S1327* is predicted to lead to a loss of Arid2 protein function.
S218Pfs*74 frameshift loss of function - predicted ARID2 S218Pfs*74 indicates a shift in the reading frame starting at amino acid 218 and terminating 74 residues downstream causing a premature truncation of the 1835 amino acid Arid2 protein (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), S218Pfs*74 is predicted to lead to a loss of Arid2 protein function.
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, Jun 2024).
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, May 2024).
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, May 2024).
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 (PMID: 32071245), 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 the C2H2-type zinc finger domain (PMID: 32071245), 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.