KRTAP2-2
Chr 17keratin associated protein 2-2
Also known as: KAP2.1, KAP2.2, KRTAP2-1, KRTAP2.1A, KRTAP2.1B
Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— KRTAP2-2
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.
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ClinVar Variants
7 Pathogenic / Likely Pathogenic· 21 VUS of 31 total submissions
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.54LOEUF
pLI 0.455
Z-score 1.15
OE 0.00 (0.00–1.54)
Highly tolerant — LoF variants common in population
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.38Z-score
OE missense 0.83 (0.63–1.11)
33 obs / 39.8 exp
Mild missense constraint
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.00 (0.00–1.54)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.83 (0.63–1.11)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.46
0≤1.21.6
LoF obs/exp: 0 / 1.5Missense obs/exp: 33 / 39.8Syn Z: 1.89
ClinVar Variant Classifications
31 submitted variants in ClinVar
Classification Summary
Pathogenic7
VUS21
Likely Benign3
7
Pathogenic
21
VUS
3
Likely Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 7 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 20 | 1 | 0 | 21 |
Likely Benign | 0 | 1 | 2 | 0 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 21 | 10 | 0 | 31 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KRTAP2-2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
TGF-beta generates a population of cancer cells residing in G1 phase with high motility and metastatic potential via KRTAP2-3.
Takahashi K et al.·Cell Rep
2022
De novo Antineoplastic Drug Design to Suppress Head, Neck and Oral Cancer using Theoretical Organic and Biochemistry via Comprehensive Molecular Docking and Dynamics
Agar S et al.·Asian Pac J Cancer Prev
2024
A Risk Score Model Based on Nine Differentially Methylated mRNAs for Predicting Prognosis of Patients with Clear Cell Renal Cell Carcinoma
Zhou J et al.·Dis Markers
2021Cohort
The Complexity of the Ovine and Caprine Keratin-Associated Protein Genes
Zhou H et al.·Int J Mol Sci
2021
Sinapine thiocyanate exhibited anti-colorectal cancer effects by inhibiting KRT6A/S100A2 axis
Yang Y et al.·Cancer Biol Ther
2023
Differential gene expression profile in Porphyromonas gingivalis treated human gingival keratinocytes and their role in the development of HNSCC
M D et al.·J Oral Biol Craniofac Res
2025
Integrative Genomic and Transcriptomic Analysis in Acute Interstitial Pneumonia
Kwak D et al.·J Cell Mol Med
2024
Epithelial differentiation of gingival mesenchymal stem cells enhances re-epithelialization for full-thickness cutaneous wound healing
Li Y et al.·Stem Cell Res Ther
2024
The Mechanisms of Fur Development and Color Formation in American Mink Revealed Using Comparative Transcriptomics
Wang L et al.·Animals (Basel)
2022Functional
Top 10 full-text resultsSearch PubTator3 ↗
External Resources
Links to major genomics databases and tools