ARPIN

Chr 15

actin related protein 2/3 complex inhibitor

Also known as: C15orf38

NCBI Gene: 348110 ENSG00000242498 UniProt: Q7Z6K5

ARPIN encodes a protein that regulates actin polymerization by inhibiting the Arp2/3 complex, controlling directional cell migration at the lamellipodium. The gene shows low constraint against loss-of-function variants (pLI 0.000015, LOEUF 1.514), but no well-established human disease associations have been reported to date.

ResearchSummary from RefSeq, UniProt

Involved in directional locomotion; negative regulation of cell migration; and negative regulation of cellular component organization. Predicted to be located in lamellipodium. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.51

LOEUF

GOF

Mechanism· predicted

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?

1.51LOEUF

pLI 0.000

Z-score 0.43

OE 0.85 (0.50–1.51)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.04Z-score

OE missense 0.99 (0.86–1.14)

141 obs / 142.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.85 (0.50–1.51)

0≤0.351.4

Missense OE?0.99 (0.86–1.14)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 8 / 9.4Missense obs/exp: 141 / 142.4Syn Z: 0.18

Background carrier burden — how many people carry a rare variant somewhere in ARPIN?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

369 rare PASS variants

Rare truncating (LoF)

1 in 2,300

74 rare PASS variants

Rare synonymous (reference)

1 in 280

144 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ARPIN. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 170	1 in 3,500
South Asian	~43k	1 in 120	1 in 1,400
Remaining (unassigned)	~30k	1 in 95	1 in 680
European (Finnish)	~27k	1 in 230	1 in 1,200
Admixed American	~22k	1 in 100	1 in 1,200
African / African American	~21k	1 in 110	1 in 840
East Asian	~20k	1 in 130	1 in 860
Ashkenazi Jewish	~13k	1 in 870	none seen
Middle Eastern	~2,884	1 in 190	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 5 of 6 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 6.? see exons ↓