EPB41L2

Chr 6

erythrocyte membrane protein band 4.1 like 2

Also known as: 4.1-G, 4.1G

NCBI Gene: 2037ENSG00000079819UniProt: O43491

Predicted to enable PH domain binding activity; cytoskeletal protein binding activity; and structural molecule activity. Involved in positive regulation of protein localization to cell cortex. Located in several cellular components, including cell cortex; cell junction; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.29
LOEUF· LoF intol.
LOF
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
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.29LOEUF
pLI 0.993
Z-score 5.51
OE 0.16 (0.09–0.29)
Highly constrained

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

Missense Constraint?
0.69Z-score
OE missense 0.92 (0.85–0.99)
503 obs / 548.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.16 (0.09–0.29)
0≤0.351.4
Missense OE?0.92 (0.85–0.99)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 8 / 50.1Missense obs/exp: 503 / 548.3Syn Z: -0.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EPB41L2 · 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