ARL13A

Chr X

ARF like GTPase 13A

Also known as: ARL13, dJ341D10.2

NCBI Gene: 392509ENSG00000174225UniProt: Q5H913OMIM: 301144

Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in non-motile cilium assembly and receptor localization to non-motile cilium. Predicted to be located in cilium. Predicted to be active in ciliary membrane; motile cilium; and non-motile cilium. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.32
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.32LOEUF
pLI 0.001
Z-score 0.92
OE 0.67 (0.36–1.32)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.05Z-score
OE missense 0.69 (0.56–0.85)
61 obs / 88.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.36–1.32)
0≤0.351.4
Missense OE?0.69 (0.56–0.85)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 6 / 9.0Missense obs/exp: 61 / 88.8Syn Z: 0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARL13A · 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