EFNA4

Chr 1

ephrin A4

Also known as: EFL4, EPLG4, LERK-4, LERK4

This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin that has been implicated in proliferation and metastasis of several types of cancers. [provided by RefSeq, May 2022]

ResearchGenerating clinical summary…
0
Active trials
13
Pubs (1 yr)
P/LP submissions
P/LP missense
1.46
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.46LOEUF
pLI 0.000
Z-score 0.66
OE 0.75 (0.411.46)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.76Z-score
OE missense 0.80 (0.670.95)
91 obs / 113.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.75 (0.411.46)
00.351.4
Missense OE?0.80 (0.670.95)
00.61.4
Synonymous OE?0.95
01.21.6
LoF obs/exp: 6 / 8.0Missense obs/exp: 91 / 113.8Syn Z: 0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

EFNA4 · 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.

Search ClinicalTrials.gov →