CPN2

Chr 3

carboxypeptidase N subunit 2

Also known as: ACBP

NCBI Gene: 1370 ENSG00000178772 UniProt: P22792 OMIM: 603104

Predicted to enable signaling receptor activity. Predicted to be involved in protein stabilization. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.97

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.97LOEUF

pLI 0.003

Z-score 1.66

OE 0.49 (0.27–0.97)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.29Z-score

OE missense 0.95 (0.86–1.05)

292 obs / 306.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.49 (0.27–0.97)

0≤0.351.4

Missense OE?0.95 (0.86–1.05)

0≤0.61.4

Synonymous OE?1.16

0≤1.21.6

LoF obs/exp: 6 / 12.3Missense obs/exp: 292 / 306.5Syn Z: -1.58

Background carrier burden — how many people carry a rare variant somewhere in CPN2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 68

675 rare PASS variants

Rare truncating (LoF)

1 in 2,800

72 rare PASS variants

Rare synonymous (reference)

1 in 140

366 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CPN2. 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 98	1 in 3,500
South Asian	~43k	1 in 60	1 in 3,600
Remaining (unassigned)	~30k	1 in 64	1 in 4,300
European (Finnish)	~27k	1 in 120	≈ 1 in 27,000
Admixed American	~22k	1 in 71	1 in 1,600
African / African American	~21k	1 in 61	1 in 1,100
East Asian	~20k	1 in 85	≈ 1 in 4,000
Ashkenazi Jewish	~13k	1 in 140	≈ 1 in 3,100
Middle Eastern	~2,884	1 in 76	none seen

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): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓