Gene Gene information from NCBI Gene database.
Entrez ID 57492
Gene name AT-rich interaction domain 1B
Gene symbol ARID1B
Synonyms (NCBI Gene)
6A3-5BAF250BBRIGHTCSS1DAN15ELD/OSA1MRD12OSA2P250RSMARCF2
Chromosome 6
Chromosome location 6q25.3
Summary This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich i
SNPs SNP information provided by dbSNP.
171
SNP ID Visualize variation Clinical significance Consequence
rs35441529 ->C Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs201653711 G>T Likely-pathogenic, pathogenic Genic upstream transcript variant, coding sequence variant, non coding transcript variant, intron variant, stop gained
rs377021700 C>G,T Uncertain-significance, pathogenic Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs387907140 C>T Pathogenic Non coding transcript variant, coding sequence variant, stop gained
rs387907141 C>T Pathogenic Non coding transcript variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
590
miRTarBase ID miRNA Experiments Reference
MIRT049438 hsa-miR-92a-3p CLASH 23622248
MIRT043253 hsa-miR-324-5p CLASH 23622248
MIRT040618 hsa-miR-92b-3p CLASH 23622248
MIRT040618 hsa-miR-92b-3p CLASH 23622248
MIRT504372 hsa-miR-543 PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin NAS 12192000
GO:0003677 Function DNA binding IDA 15170388
GO:0003677 Function DNA binding IEA
GO:0003713 Function Transcription coactivator activity NAS 11734557
GO:0005515 Function Protein binding IPI 12200431, 33961781, 35271311, 36950384
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614556 18040 ENSG00000049618
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NFD5
Protein name AT-rich interactive domain-containing protein 1B (ARID domain-containing protein 1B) (BRG1-associated factor 250b) (BAF250B) (BRG1-binding protein hELD/OSA1) (Osa homolog 2) (hOsa2) (p250R)
Protein function Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromati
PDB 2CXY , 2EH9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01388 ARID 1055 1140 ARID/BRIGHT DNA binding domain Domain
PF12031 BAF250_C 1927 2182 SWI/SNF-like complex subunit BAF250/Osa Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with high levels in heart, skeletal muscle and kidney. {ECO:0000269|PubMed:11988099, ECO:0000269|PubMed:12200431, ECO:0000269|PubMed:12665591}.
Sequence
MAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAME
TGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQ
QQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLS
KPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPA
SGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPG
YSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGG
SSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLN
QLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMG
AQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQ
QSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQMPPQYGQQGVSGYCQQGQQPY
YSQQPQPPHLPPQAQYLPSQSQQRYQPQQDMSQEGYGTRSQPPLAPGKPNHEDLNLIQQE
RPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQGDQSNPAQSPFSPHASPHLSSIPG
GPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPGSQSESSSHPALSQSPMPQERGFM
AGTQRNPQMAQYGPQQTGPSMSPHPSPGGQMHAGISSFQQSNSSGTYGPQMSQYGPQGNY
SRPPAYSGVPSASYSGPGPGMGISANNQMHGQGPSQPCGAVPLGRMPSAGMQNRPFPGNM
SSMTPSSPGMSQQGGPGMGPPMPTVNRKAQEAAAAVMQAAANSAQSRQGSFPGMNQSGLM
ASSSPYSQPMNNSSSLMNTQAPPYSMAPAMVNSSAASVGLADMMSPGESKLPLPLKADGK
EEGTPQPESKSKKSSSSTTTGEKITKVYELGNEPERKLWVDRYLTFMEERGSPVSSLPAV
GKKPLDLFRLYVCVKEIGGLAQVNKNKKWRELATNLNVGTSSSAASSLKKQYIQYLFAFE

CKIERGEEPPPEVFSTGDTKKQPKLQPPSPANSGSLQGPQTPQSTGSNSMAEVPGDLKPP
TPASTPHGQMTPMQGGRSSTISVHDPFSDVSDSSFPKRNSMTPNAPYQQGMSMPDVMGRM
PYEPNKDPFGGMRKVPGSSEPFMTQGQMPNSSMQDMYNQSPSGAMSNLGMGQRQQFPYGA
SYDRRHEPYGQQYPGQGPPSGQPPYGGHQPGLYPQQPNYKRHMDGMYGPPAKRHEGDMYN
MQYSSQQQEMYNQYGGSYSGPDRRPIQGQYPYPYSRERMQGPGQIQTHGIPPQMMGGPLQ
SSSSEGPQQNMWAARNDMPYPYQNRQGPGGPTQAPPYPGMNRTDDMMVPDQRINHESQWP
SHVSQRQPYMSSSASMQPITRPPQPSYQTPPSLPNHISRAPSPASFQRSLENRMSPSKSP
FLPSMKMQKVMPTVPTSQVTGPPPQPPPIRREITFPPGSVEASQPVLKQRRKITSKDIVT
PEAWRVMMSLKSGLLAESTWALDTINILLYDDSTVATFNLSQLSGFLELLVEYFRKCLID
IFGILMEYEVGDPSQKALDHNAARKDDSQSLADDSGKEEEDAECIDDDEEDEEDEEEDSE
KTESDEKSSIALTAPDAAADPKEKPKQASKFDKLPIKIVKKNNLFVVDRSDKLGRVQEFN
SGLLHWQLGGGDTTEHIQTHFESKMEIPPRRRPPPPLSSAGRKKEQEGKGDSEEQQEKSI
IATIDDVLSARPGALPEDANPGPQTESSKFPFGIQQAKSHRNIKLLEDEPRSRDETPLCT
IAHWQDSLAKRCICVSNIVRSLSFVPGNDAEMSKHPGLVLILGKLILLHHEHPERKRAPQ
TYEKEEDEDKGVACSKDEWWWDCLEVLRDNTLVTLANISGQLDLSAYTESICLPILDGLL
HWMVCPSAEAQDPFPTVGPNSVLSPQRLVLETLCKLSIQDNNVDLILATPPFSRQEKFYA
TLVRYVGDRKNPVCREMSMALLSNLAQGDALAARAIAVQKGSIGNLISFLEDGVTMAQYQ
QSQHNLMHMQPPPLEPPSVDMM
CRAAKALLAMARVDENRSEFLLHEGRLLDISISAVLNS
LVASVICDVLFQIGQL
Sequence length 2236
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ATP-dependent chromatin remodeling
Thermogenesis
Hepatocellular carcinoma
  RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
946
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Pathogenic rs2128377544 RCV005922798
Adrenal cortex carcinoma Pathogenic rs2128366503 RCV004813171
ARID1B-related BAFopathy Pathogenic; Likely pathogenic rs1791374798, rs1554265253, rs2128210962, rs2128275227, rs1314750809, rs2128634170, rs138254872, rs2128316571, rs2128316690, rs1554231205, rs2128325986, rs2128366431, rs2128372410, rs2128372755, rs2128385309
View all (31 more)
RCV001533111
RCV001533086
RCV001533088
RCV001533089
RCV001533091
RCV001533108
RCV001533109
RCV001533113
RCV001533114
RCV001533115
RCV001533121
RCV001533020
RCV001533022
RCV001533023
RCV001533028
RCV001533029
RCV001533030
RCV001533031
RCV001533033
RCV001533060
RCV001533062
RCV001533110
RCV001533021
RCV001533090
RCV001533081
RCV001533123
RCV001533118
RCV001533116
RCV001533032
RCV001533026
RCV001533085
RCV001533061
RCV001533087
RCV001533117
RCV001533119
RCV001533019
RCV001533024
RCV001533027
RCV001533063
RCV001533112
RCV001533120
RCV001533122
RCV001533025
RCV001533083
RCV001533082
RCV001533034
ARID1B-related disorder Likely pathogenic; Pathogenic rs797045277, rs797045282, rs797045283, rs35441529, rs2538152246, rs2538508020, rs2538755076, rs2534823217, rs387907144, rs1778945620 RCV004528976
RCV004725042
RCV004737299
RCV003336836
RCV004527964
RCV004528038
RCV004528006
RCV004528745
RCV004737163
RCV004545161
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Astrocytoma Uncertain significance rs1276300860 RCV000595744
Cholangiocarcinoma Benign rs12209122 RCV005924716
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs78808526 RCV005918693
Colon adenocarcinoma Likely benign rs754042537 RCV005909218
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 31699841, 37327699
Agenesis of Corpus Callosum Associate 21801163, 33270637
Altitude Sickness Associate 35672450
Amyotrophic lateral sclerosis 1 Associate 35853630
Anemia Aplastic Associate 29596882
Angiomyolipoma Associate 31077186
Anhedonia Associate 28525603
Apraxias Associate 28691782
Ataxia Telangiectasia Associate 27203213
Autism Spectrum Disorder Associate 26637798, 32887689, 35110736