ARID5A
Chr 2AT-rich interaction domain 5A
Also known as: MRF-1, MRF1, RP11-363D14
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
169 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 22 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 10 | 0 | 10 |
VUS | 2 | 91 | 31 | 0 | 124 |
Likely Benign | 0 | 3 | 3 | 2 | 8 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 2 | 94 | 66 | 2 | 165 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ARID5A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools