ARL3

Chr 10

ARF like GTPase 3

Also known as: ARFL3, JBTS35, RP83

NCBI Gene: 403ENSG00000138175UniProt: P36405

Enables GDP binding activity; GTP binding activity; and microtubule binding activity. Involved in several processes, including cilium assembly; protein localization to cilium; and small GTPase-mediated signal transduction. Acts upstream of or within post-Golgi vesicle-mediated transport. Located in several cellular components, including microtubule cytoskeleton; midbody; and photoreceptor connecting cilium. Implicated in Joubert syndrome and retinitis pigmentosa 83. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtJoubert syndrome 35
UniProtRetinitis pigmentosa 83
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.10
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — ARL3
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.10LOEUF
pLI 0.001
Z-score 1.35
OE 0.56 (0.30–1.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.16Z-score
OE missense 0.67 (0.55–0.82)
65 obs / 97.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.30–1.10)
0≤0.351.4
Missense OE?0.67 (0.55–0.82)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 6 / 10.8Missense obs/exp: 65 / 97.1Syn Z: 0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARL3 · 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