AP1AR

Chr 4

adaptor related protein complex 1 associated regulatory protein

Also known as: 2C18, C4orf16, GBAR, PRO0971, gamma-BAR

NCBI Gene: 55435ENSG00000138660UniProt: Q63HQ0OMIM: 610851

Enables AP-1 adaptor complex binding activity and kinesin binding activity. Involved in negative regulation of receptor recycling and vesicle targeting, trans-Golgi to endosome. Acts upstream of or within negative regulation of substrate adhesion-dependent cell spreading. Located in Golgi apparatus and transport vesicle. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.56
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.56LOEUF
pLI 0.142
Z-score 2.95
OE 0.27 (0.14–0.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.19Z-score
OE missense 0.72 (0.61–0.85)
103 obs / 143.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.27 (0.14–0.56)
0≤0.351.4
Missense OE?0.72 (0.61–0.85)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 5 / 18.8Missense obs/exp: 103 / 143.2Syn Z: 0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AP1AR · 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