Gene Gene information from NCBI Gene database.
Entrez ID 5926
Gene name AT-rich interaction domain 4A
Gene symbol ARID4A
Synonyms (NCBI Gene)
RBBP-1RBBP1RBP-1RBP1
Chromosome 14
Chromosome location 14q23.1
Summary The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs62621193 G>A,C Conflicting-interpretations-of-pathogenicity Splice donor variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1594966387 G>T Likely-pathogenic Genic downstream transcript variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
283
miRTarBase ID miRNA Experiments Reference
MIRT018511 hsa-miR-335-5p Microarray 18185580
MIRT030996 hsa-miR-21-5p Microarray 18591254
MIRT624668 hsa-miR-548ac HITS-CLIP 23824327
MIRT624667 hsa-miR-548bb-3p HITS-CLIP 23824327
MIRT624666 hsa-miR-548d-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II NAS 9651585, 22865885
GO:0000976 Function Transcription cis-regulatory region binding IBA
GO:0003677 Function DNA binding IDA 15640446
GO:0003677 Function DNA binding IEA
GO:0003690 Function Double-stranded DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
180201 9885 ENSG00000032219
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29374
Protein name AT-rich interactive domain-containing protein 4A (ARID domain-containing protein 4A) (Retinoblastoma-binding protein 1) (RBBP-1)
Protein function DNA-binding protein which modulates activity of several transcription factors including RB1 (retinoblastoma-associated protein) and AR (androgen receptor) (By similarity). May function as part of an mSin3A repressor complex (PubMed:14581478). Ha
PDB 2LCC , 2MAM , 2YRV , 6BPH , 6L87 , 7SMC , 7V8N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08169 RBB1NT 170 262 RBB1NT (NUC162) domain Domain
PF01388 ARID 311 397 ARID/BRIGHT DNA binding domain Domain
PF11717 Tudor-knot 574 630 RNA binding activity-knot of a chromodomain Family
Sequence
MKAADEPAYLTVGTDVSAKYRGAFCEAKIKTVKRLVKVKVLLKQDNTTQLVQDDQVKGPL
RVGAIVETRTSDGSFQEAIISKLTDASWYTVVFDDGDERTLRRTSLCLKGERHFAESETL
DQLPLTNPEHFGTPVIAKKTNRGRRSSLPVTEDEKEEESSEEEDEDKRRLNDELLGKVVS
VVSATERTEWYPALVISPSCNDDITVKKDQCLVRSFIDSKFYSIARKDIKEVDILNLPES
ELSTKPGLQKASIFLKTRVVPD
NWKMDISEILESSSSDDEDGPAEENDEEKEKEAKKTEE
EVPEEELDPEERDNFLQQLYKFMEDRGTPINKPPVLGYKDLNLFKLFRLVYHQGGCDNID
SGAVWKQIYMDLGIPILNSAASYNVKTAYRKYLYGFE
EYCRSANIQFRTVHHHEPKVKEE
KKDLEESMEEALKLDQEMPLTEVKSEPEENIDSNSESEREEIELKSPRGRRRIARDVNSI
KKEIEEEKTEDKLKDNDTENKDVDDDYETAEKKENELLLGRKNTPKQKEKKIKKQEDSDK
DSDEEEEKSQEREETESKCDSEGEEDEEDMEPCLTGTKVKVKYGRGKTQKIYEASIKSTE
IDDGEVLYLVHYYGWNVRYDEWVKADRIIW
PLDKGGPKKKQKKKAKNKEDSEKDEKRDEE
RQKSKRGRPPLKSTLSSNMPYGLSKTANSEGKSDSCSSDSETEDALEKNLINEELSLKDE
LEKNENLNDDKLDEENPKISAHILKENDRTQMQPLETLKLEVGENEQIVQIFGNKMEKTE
EVKKEAEKSPKGKGRRSKTKDLSLEIIKISSFGQNEAGSEPHIEAHSLELSSLDNKNFSS
ATEDEIDQCVKEKKLKRKILGQSSPEKKIRIENGMEMTNTVSQERTSDCIGSEGMKNLNF
EQHFERENEGMPSLIAESNQCIQQLTSERFDSPAEETVNIPLKEDEDAMPLIGPETLVCH
EVDLDDLDEKDKTSIEDVAVESSESNSLVSIPPALPPVVQHNFSVASPLTLSQDESRSVK
SESDITIEVDSIAEESQEGLCERESANGFETNVASGTCSIIVQERESREKGQKRPSDGNS
GLMAKKQKRTPKRTSAAAKNEKNGTGQSSDSEDLPVLDNSSKCTPVKHLNVSKPQKLARS
PARISPHIKDGEKDKHREKHPNSSPRTYKWSFQLNELDNMNSTERISFLQEKLQEIRKYY
MSLKSEVATIDRRRKRLKKKDREVSHAGASMSSASSDTGMSPSSSSPPQNVLAVECR
Sequence length 1257
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HDACs deacetylate histones
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
22
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Multiple myeloma Likely pathogenic rs1594966387 RCV000984133
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity rs62621193 RCV005895501
Cervical cancer Conflicting classifications of pathogenicity rs62621193 RCV005895505
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs62621193 RCV005895506
Colon adenocarcinoma Uncertain significance; Conflicting classifications of pathogenicity rs141577860, rs62621193 RCV005928919
RCV005895500
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 10496363, 33592583
Calcinosis Cutis Associate 31668133
Death Associate 12824904
Leukemia Associate 22247551
Neoplasms Associate 20441585, 22247551, 28486502
Prader Willi Syndrome Associate 22247551
Pre Eclampsia Associate 35296332
Stomach Neoplasms Associate 28486502
Venous Thromboembolism Associate 31420334