KRTCAP2

Chr 1

keratinocyte associated protein 2

Also known as: KCP2

NCBI Gene: 200185ENSG00000163463UniProt: Q8N6L1

Enables enzyme activator activity and protein-macromolecule adaptor activity. Involved in protein N-linked glycosylation via asparagine. Part of oligosaccharyltransferase complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.46
LOEUF
Multiple*
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?
1.46LOEUF
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

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KRTCAP2 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients