ARPC5

Chr 1AR

actin related protein 2/3 complex subunit 5

Also known as: ARC16, IMD113, dJ127C7.3, p16-Arc

NCBI Gene: 10092ENSG00000162704UniProt: O15511OMIM: 604227

This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Immunodeficiency 113 with autoimmunity and autoinflammationMIM #620565
AR

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
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.53
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.53LOEUF
pLI 0.822
Z-score 2.21
OE 0.00 (0.00–0.53)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.63Z-score
OE missense 0.51 (0.40–0.66)
45 obs / 87.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.53)
0≤0.351.4
Missense OE?0.51 (0.40–0.66)
0≤0.61.4
Synonymous OE?1.27
0≤1.21.6
LoF obs/exp: 0 / 5.7Missense obs/exp: 45 / 87.9Syn Z: -1.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARPC5 · 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