ARID5A

Chr 2

AT-rich interaction domain 5A

Also known as: MRF-1, MRF1, RP11-363D14

NCBI Gene: 10865 ENSG00000196843 UniProt: Q03989

This gene encodes a DNA-binding protein that regulates transcription by binding to AT-rich promoter sequences and functions as an RNA-binding protein that stabilizes inflammation-related mRNAs including IL6 and STAT3. Mutations in ARID5A have not been definitively associated with human disease based on the available information. The gene shows high constraint against loss-of-function variants (pLI = 0.95, LOEUF = 0.35), suggesting that complete loss of function would likely be severe if disease-causing.

ResearchSummary from RefSeq, UniProt

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, Mar 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.35

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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