ARPC5

Chr 1AR

actin related protein 2/3 complex subunit 5

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

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…
ARLOEUF 0.531 OMIM phenotype
Clinical SummaryARPC5
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.82) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
2 unique Pathogenic / Likely Pathogenic· 16 VUS of 20 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.53LOEUF
pLI 0.822
Z-score 2.21
OE 0.00 (0.000.53)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.63Z-score
OE missense 0.51 (0.400.66)
45 obs / 87.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.000.53)
00.351.4
Missense OE?0.51 (0.400.66)
00.61.4
Synonymous OE?1.27
01.21.6
LoF obs/exp: 0 / 5.7Missense obs/exp: 45 / 87.9Syn Z: -1.21

ClinVar Variant Classifications

20 submitted variants in ClinVar

Classification Summary

Pathogenic2
VUS16
Benign1
2
Pathogenic
16
VUS
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
0
0
0
2
Likely Pathogenic
0
0
0
0
0
VUS
0
16
0
0
16
Likely Benign
0
0
0
0
0
Benign
0
0
0
1
1
Total2160119

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

View in ClinVar →

26 pathogenic / likely-pathogenic (of 30) ClinVar copy-number / structural variants overlap ARPC5 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

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

No active trials found for this gene.

Search ClinicalTrials.gov →