KRTCAP2

Chr 1

keratinocyte associated protein 2

Also known as: KCP2

NCBI Gene: 200185 ENSG00000163463 UniProt: Q8N6L1 OMIM: 619029

Enables enzyme activator activity and protein-macromolecule adaptor activity. Involved in protein N-linked glycosylation. Located in endoplasmic reticulum membrane. Part of oligosaccharyltransferase complex A. [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

1.46

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.46LOEUF

pLI 0.000

Z-score 0.66

OE 0.75 (0.41–1.46)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.42Z-score

OE missense 1.13 (0.96–1.33)

100 obs / 88.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.75 (0.41–1.46)

0≤0.351.4

Missense OE?1.13 (0.96–1.33)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 6 / 8.0Missense obs/exp: 100 / 88.8Syn Z: -0.19

Background carrier burden — how many people carry a rare variant somewhere in KRTCAP2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 360

198 rare PASS variants

Rare truncating (LoF)

1 in 2,800

31 rare PASS variants

Rare synonymous (reference)

1 in 1,200

59 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for KRTCAP2. 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 380	1 in 3,000
South Asian	~43k	1 in 720	1 in 2,700
Remaining (unassigned)	~30k	1 in 330	1 in 3,800
European (Finnish)	~27k	1 in 680	≈ 1 in 8,900
Admixed American	~22k	1 in 420	1 in 730
African / African American	~21k	1 in 200	≈ 1 in 9,300
East Asian	~20k	1 in 500	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 1,500	≈ 1 in 6,400
Middle Eastern	~2,884	≈ 1 in 720	≈ 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): All 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓