ECT2L

Chr 6

epithelial cell transforming 2 like

Also known as: ARHGEF32, C6orf91, FBXO49, LFDH, dJ509I19.2, dJ509I19.3, dJ509I19.5

NCBI Gene: 345930ENSG00000203734UniProt: Q008S8

Predicted to enable guanyl-nucleotide exchange factor activity. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.50
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.50LOEUF
pLI 0.000
Z-score -1.49
OE 1.22 (1.00–1.50)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.11Z-score
OE missense 0.99 (0.91–1.06)
462 obs / 468.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.22 (1.00–1.50)
0≤0.351.4
Missense OE?0.99 (0.91–1.06)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 65 / 53.3Missense obs/exp: 462 / 468.7Syn Z: -0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ECT2L · 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