Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57492
Gene name Gene Name - the full gene name approved by the HGNC.
AT-rich interaction domain 1B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARID1B
Synonyms (NCBI Gene) Gene synonyms aliases
6A3-5, BAF250B, BRIGHT, CSS1, DAN15, ELD/OSA1, MRD12, OSA2, P250R, SMARCF2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614556 18040 ENSG00000049618
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Coffin-Siris Syndrome coffin-siris syndrome, Coffin-Siris syndrome 1 rs1554231904, rs1554237269, rs797045282, rs1057518045, rs1554232919, rs754167205, rs1554237992, rs1562331655, rs1131691706, rs786205584, rs797045283, rs1554265275, rs1057518951, rs1583280152, rs387907140
View all (90 more)
N/A
Mental retardation intellectual disability rs1417035592, rs1554231836 N/A
autism spectrum disorder Autism spectrum disorder rs794727977 N/A
Medulloblastoma medulloblastoma rs1554231278 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Astrocytoma astrocytoma N/A N/A ClinVar
Breast Cancer Breast cancer N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Microcephaly microcephaly N/A N/A ClinVar
Associations from Text Mining Disease 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