ARID5B

Chr 10

AT-rich interaction domain 5B

Also known as: DESRT, MRF-2, MRF2

NCBI Gene: 84159ENSG00000150347UniProt: Q14865OMIM: 608538

This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeukemia, acute lymphoblastic

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.
1
Active trials
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Pubs (1 yr)
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P/LP submissions
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P/LP missense
0.11
LOEUF· LoF intol.
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.11LOEUF
pLI 1.000
Z-score 5.94
OE 0.02 (0.01–0.11)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
2.60Z-score
OE missense 0.72 (0.66–0.77)
478 obs / 666.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.02 (0.01–0.11)
0≤0.351.4
Missense OE?0.72 (0.66–0.77)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 1 / 43.0Missense obs/exp: 478 / 666.9Syn Z: 0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARID5B · 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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients