ARL4C

Chr 2

ARF like GTPase 4C

Also known as: ARL7, LAK

NCBI Gene: 10123ENSG00000188042UniProt: P56559

ADP-ribosylation factor-like 4C encodes a small GTP-binding protein that regulates intracellular vesicular transport between endosomes and the plasma membrane, and is involved in cholesterol transport pathways. The gene shows high constraint against loss-of-function variants (LOEUF 0.632), but no human disease associations have been established for ARL4C mutations. Additional research is needed to determine if variants in this gene cause pediatric neurological conditions.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
9
Pubs (1 yr)
44
P/LP submissions
0%
P/LP missense
0.63
LOEUF
—
Mechanism
Clinical Summary— ARL4C
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.76) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
44 unique Pathogenic / Likely Pathogenic· 17 VUS of 62 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.63LOEUF
pLI 0.761
Z-score 2.02
OE 0.00 (0.00–0.63)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
2.45Z-score
OE missense 0.35 (0.27–0.46)
39 obs / 112.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.00 (0.00–0.63)
0≤0.351.4
Missense OE0.35 (0.27–0.46)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 0 / 4.7Missense obs/exp: 39 / 112.0Syn Z: -0.20

ClinVar Variant Classifications

62 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic42
Likely Pathogenic2
VUS17
Benign1
42
Pathogenic
2
Likely Pathogenic
17
VUS
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
42
0
42
Likely Pathogenic
0
0
2
0
2
VUS
0
11
6
0
17
Likely Benign
0
0
0
0
0
Benign
0
0
1
0
1
Total01151062

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ARL4C · 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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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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