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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARID5A-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autoimmune Diseases Autoimmune Diseases BEFREE 28168301, 28379390, 29244194, 29701145
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 37129704 Associate
★☆☆☆☆
Found in Text Mining only
Bloom Syndrome Bloom Syndrome BEFREE 28379390
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33592583 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 32548260 Associate
★☆☆☆☆
Found in Text Mining only
Metabolic Diseases Metabolic Diseases BEFREE 31289228
★☆☆☆☆
Found in Text Mining only
Obesity, Morbid Obesity BEFREE 31289228
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 34633095 Associate
★☆☆☆☆
Found in Text Mining only
Respiratory Distress Syndrome, Adult Respiratory Distress Syndrome BEFREE 28379390
★☆☆☆☆
Found in Text Mining only