PLEKHG6

Chr 12

pleckstrin homology and RhoGEF domain containing G6

Also known as: ARHGEF46, MyoGEF

NCBI Gene: 55200ENSG00000008323UniProt: Q3KR16OMIM: 611743

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in cell junction. Implicated in cystic fibrosis. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.00
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.00LOEUF
pLI 0.000
Z-score 1.55
OE 0.75 (0.57–1.00)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.00Z-score
OE missense 1.00 (0.93–1.08)
462 obs / 462.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.75 (0.57–1.00)
0≤0.351.4
Missense OE?1.00 (0.93–1.08)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 35 / 46.4Missense obs/exp: 462 / 462.0Syn Z: -0.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PLEKHG6 · 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