PCOLCE2

Chr 3

procollagen C-endopeptidase enhancer 2

Also known as: PCPE2

NCBI Gene: 26577 ENSG00000163710 UniProt: Q9UKZ9 OMIM: 607064

Enables collagen binding activity; heparin binding activity; and peptidase activator activity. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in extracellular region. [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

1.22

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.22LOEUF

pLI 0.000

Z-score 0.76

OE 0.82 (0.57–1.22)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.59Z-score

OE missense 0.89 (0.80–1.00)

213 obs / 238.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.82 (0.57–1.22)

0≤0.351.4

Missense OE?0.89 (0.80–1.00)

0≤0.61.4

Synonymous OE?0.84

0≤1.21.6

LoF obs/exp: 18 / 21.9Missense obs/exp: 213 / 238.5Syn Z: 1.21

Background carrier burden — how many people carry a rare variant somewhere in PCOLCE2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 100

570 rare PASS variants

Rare truncating (LoF)

1 in 910

125 rare PASS variants

Rare synonymous (reference)

1 in 360

160 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PCOLCE2. 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 140	1 in 1,100
South Asian	~43k	1 in 99	1 in 490
Remaining (unassigned)	~30k	1 in 77	1 in 680
European (Finnish)	~27k	1 in 480	≈ 1 in 8,800
Admixed American	~22k	1 in 77	1 in 530
African / African American	~21k	1 in 95	1 in 250
East Asian	~20k	1 in 95	1 in 1,200
Ashkenazi Jewish	~13k	1 in 1,600	1 in 480
Middle Eastern	~2,884	1 in 74	≈ 1 in 1,300

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 9 coding exons well covered in gnomAD exomes; exons 1, 2, 6, 7 marginal. Genomes: all 9.? see exons ↓