ARHGAP32

Chr 11

Rho GTPase activating protein 32

Also known as: GC-GAP, GRIT, PX-RICS, RICS, p200RhoGAP, p250GAP

RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008]

0
Active trials
4
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.25
LOEUF· LoF intol.
LOF
Mechanism· predicted
Clinical SummaryARHGAP32
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.25LOEUF
pLI 1.000
Z-score 7.02
OE 0.16 (0.100.25)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.81Z-score
OE missense 0.85 (0.810.90)
976 obs / 1148.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.16 (0.100.25)
00.351.4
Missense OE0.85 (0.810.90)
00.61.4
Synonymous OE0.98
01.21.6
LoF obs/exp: 13 / 81.3Missense obs/exp: 976 / 1148.3Syn Z: 0.37
DN
0.4090th %ile
GOF
0.4678th %ile
LOF
0.73top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.25

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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ARHGAP32 · 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

No active trials found for this gene.

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Clinical Literature
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