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]

214
ClinVar variants
129
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— ARHGAP11B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
129 Pathogenic / Likely Pathogenic· 75 VUS of 214 total submissions
Some data sources returned errors (1)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
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?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.35Z-score
OE missense 1.08 (0.95–1.24)
154 obs / 142.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.91 (0.54–1.56)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.08 (0.95–1.24)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.02
0≤1.21.6
LoF obs/exp: 9 / 9.9Missense obs/exp: 154 / 142.4Syn Z: -0.10

ClinVar Variant Classifications

214 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic125
Likely Pathogenic4
VUS75
Likely Benign4
Benign1
Conflicting5
125
Pathogenic
4
Likely Pathogenic
75
VUS
4
Likely Benign
1
Benign
5
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
125
0
125
Likely Pathogenic
0
0
4
0
4
VUS
0
39
36
0
75
Likely Benign
0
3
1
0
4
Benign
0
0
1
0
1
Conflicting
—5
Total0421670214

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in 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.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
📖
GeneReview available — ARHGAP11B
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Whole-genome sequencing analysis of Japanese autism spectrum disorder trios.
Furukawa S et al.·Psychiatry Clin Neurosci
2025
Expression of human-specific ARHGAP11B in mice leads to neocortex expansion and increased memory flexibility.
Xing L et al.·EMBO J
2021
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.
Vadgama N et al.·Eur J Hum Genet
2019Clinical trial
Activation of RHO-GTPase gene pattern correlates with adverse clinical outcome and immune microenvironment in clear cell renal cell carcinoma.
Guo K et al.·Clin Exp Med
2025
A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.
Speed D et al.·Hum Mol Genet
2014Cohort
Renal enhanced CT images reveal the tandem mechanism between tumor cells and immunocytes based on bulk/single-cell RNA sequencing.
Liang H et al.·Funct Integr Genomics
2023Functional
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Chilian B et al.·Clin Genet
2013Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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