ARL14EP

Chr 11

ARF like GTPase 14 effector protein

Also known as: ARF7EP, C11orf46, dJ299F11.1

NCBI Gene: 120534ENSG00000152219UniProt: Q8N8R7

The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014]

Research Assistant →
0
Active trials
1
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.69
LOEUF
—
Mechanism
Clinical Summary— ARL14EP
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.69LOEUF
pLI 0.379
Z-score 2.18
OE 0.22 (0.09–0.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.63Z-score
OE missense 0.85 (0.73–0.99)
117 obs / 137.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.22 (0.09–0.69)
0≤0.351.4
Missense OE0.85 (0.73–0.99)
0≤0.61.4
Synonymous OE1.02
0≤1.21.6
LoF obs/exp: 2 / 9.1Missense obs/exp: 117 / 137.8Syn Z: -0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARL14EP · 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.

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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