Gene Gene information from NCBI Gene database.
Entrez ID 10865
Gene name AT-rich interaction domain 5A
Gene symbol ARID5A
Synonyms (NCBI Gene)
MRF-1MRF1RP11-363D14
Chromosome 2
Chromosome location 2q11.2
Summary Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM
miRNA miRNA information provided by mirtarbase database.
57
miRTarBase ID miRNA Experiments Reference
MIRT043168 hsa-miR-324-5p CLASH 23622248
MIRT796917 hsa-miR-326 CLIP-seq
MIRT796918 hsa-miR-330-5p CLIP-seq
MIRT796919 hsa-miR-34a CLIP-seq
MIRT796920 hsa-miR-34c-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15941852
GO:0000976 Function Transcription cis-regulatory region binding IBA
GO:0002062 Process Chondrocyte differentiation IEA
GO:0002376 Process Immune system process IEA
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611583 17361 ENSG00000196843
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q03989
Protein name AT-rich interactive domain-containing protein 5A (ARID domain-containing protein 5A) (Modulator recognition factor 1) (MRF-1)
Protein function DNA-binding protein that may regulate transcription and act as a repressor by binding to AT-rich stretches in the promoter region of target genes (PubMed:8649988). May positively regulate chondrocyte-specific transcription such as of COL2A1 in c
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01388 ARID 57 142 ARID/BRIGHT DNA binding domain Domain
Sequence
MAAPVKGNRKQSTEGDALDPPASPKPAGKQNGIQNPISLEDSPEAGGEREEEQEREEEQA
FLVSLYKFMKERHTPIERVPHLGFKQINLWKIYKAVEKLGAYELVTGRRLWKNVYDELGG
SPGSTSAATCTRRHYERLVLPY
VRHLKGEDDKPLPTSKPRKQYKMAKENRGDDGATERPK
KAKEERRMDQMMPGKTKADAADPAPLPSQEPPRNSTEQQGLASGSSVSFVGASGCPEAYK
RLLSSFYCKGTHGIMSPLAKKKLLAQVSKVEALQCQEEGCRHGAEPQASPAVHLPESPQS
PKGLTENSRHRLTPQEGLQAPGGSLREEAQAGPCPAAPIFKGCFYTHPTEVLKPVSQHPR
DFFSRLKDGVLLGPPGKEGLSVKEPQLVWGGDANRPSAFHKGGSRKGILYPKPKACWVSP
MAKVPAESPTLPPTFPSSPGLGSKRSLEEEGAAHSGKRLRAVSPFLKEADAKKCGAKPAG
SGLVSCLLGPALGPVPPEAYRGTMLHCPLNFTGTPGPLKGQAALPFSPLVIPAFPAHFLA
TAGPSPMAAGLMHFPPTSFDSALRHRLCPASSAWHAPPVTTYAAPHFFHLNTKL
Sequence length 594
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ARID5A-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign rs376260443, rs1173012445, rs200133265, rs141580378, rs150396730, rs144780626, rs36068522 RCV003412080
RCV003418960
RCV003923913
RCV003949315
RCV003931977
RCV003983642
RCV003972165
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autoimmune Diseases Associate 37129704
Breast Neoplasms Associate 33592583
Inflammation Associate 37129704
Influenza Human Associate 35893690
Lung Neoplasms Associate 32548260
Neoplasms Associate 32548260
Prostatic Neoplasms Associate 34633095