ARHGAP11B

Chr 15

Rho GTPase activating protein 11B

Also known as: B'-T, FAM7B1, GAP (1-8)

NCBI Gene: 89839ENSG00000285077UniProt: Q3KRB8

Predicted to enable GTPase activator activity. Involved in cerebral cortex development and negative regulation of mitochondrial membrane permeability. Acts upstream of with a positive effect on glutamine catabolic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2025]

GeneReviewsResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.56
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — ARHGAP11B
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.56LOEUF
pLI 0.000
Z-score 0.28
OE 0.91 (0.54–1.56)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.35Z-score
OE missense 1.08 (0.95–1.24)
154 obs / 142.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.54–1.56)
0≤0.351.4
Missense OE?1.08 (0.95–1.24)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 9 / 9.9Missense obs/exp: 154 / 142.4Syn Z: -0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARHGAP11B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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