PLEKHG5

Chr 1

pleckstrin homology and RhoGEF domain containing G5

Also known as: ARHGEF45, CMTRIC, DSMA4, GEF720, HMNR4, Syx, Tech

NCBI Gene: 57449ENSG00000171680UniProt: O94827

This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeuronopathy, distal hereditary motor, autosomal recessive 4
UniProtCharcot-Marie-Tooth disease, recessive intermediate C

Clinical highlights

Gene-disease validity (ClinGen)
neuromuscular disease · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.56
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.56LOEUF
pLI 0.000
Z-score 3.94
OE 0.38 (0.26–0.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.49Z-score
OE missense 0.84 (0.78–0.90)
552 obs / 659.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.38 (0.26–0.56)
0≤0.351.4
Missense OE?0.84 (0.78–0.90)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 18 / 47.2Missense obs/exp: 552 / 659.7Syn Z: -0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PLEKHG5 · 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