ARHGEF11

Chr 1

Rho guanine nucleotide exchange factor 11

Also known as: GTRAP48, PDZ-RHOGEF

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
LOFmechanismLOEUF 0.21
Clinical SummaryARHGEF11
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?
0.21LOEUF
pLI 1.000
Z-score 7.65
OE 0.13 (0.080.21)
Highly constrained

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

Missense Constraint?
1.63Z-score
OE missense 0.85 (0.800.90)
781 obs / 920.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.13 (0.080.21)
00.351.4
Missense OE?0.85 (0.800.90)
00.61.4
Synonymous OE?0.85
01.21.6
LoF obs/exp: 12 / 90.5Missense obs/exp: 781 / 920.1Syn Z: 2.19

This gene — mechanism propensity

DN
0.3892th %ile
GOF
0.5954th %ile
LOF
0.68top 25%

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

LOFprediction above median · LOEUF 0.21

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

ARHGEF11 · 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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