KRTAP2-4

Chr 17

keratin associated protein 2-4

Also known as: KAP2.1B, KAP2.4, KRTAP2.4

NCBI Gene: 85294UniProt: Q9BYR9

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

45
ClinVar variants
7
Pathogenic / LP
0.00
pLI score
0.5
Missense Z
1.91
LOEUF
0
Active trials
Clinical Summary— KRTAP2-4
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 35 VUS of 45 total submissions
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 500 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/KRTAP2-4?content-type=application/json&expand=1

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
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.
1.91LOEUF
pLI 0.001
Z-score -0.49
OE 1.30 (0.59–1.91)
Tolerant

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.
0.50Z-score
OE missense 0.83 (0.67–1.03)
56 obs / 67.6 exp
Tolerant

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.1.30 (0.59–1.91)
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 (0.67–1.03)
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.0.79
0≤1.21.6
LoF obs/exp: 4 / 3.1Missense obs/exp: 56 / 67.6Syn Z: 0.90

ClinVar Variant Classifications

45 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic7
VUS35
Likely Benign3
7
Pathogenic
35
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
7
0
7
Likely Pathogenic
0
0
0
0
0
VUS
0
34
1
0
35
Likely Benign
0
1
2
0
3
Benign
0
0
0
0
0
Total03510045

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KRTAP2-4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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
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
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
Evaluation of the Usefulness of Human Adipose-Derived Stem Cell Spheroids Formed Using SphereRing and the Lethal Damage Sensitivity to Synovial Fluid In Vitro
Fuku A et al.·Cells
2022
The Mechanisms of Fur Development and Color Formation in American Mink Revealed Using Comparative Transcriptomics
Wang L et al.·Animals (Basel)
2022Functional
RTP4 is a novel prognosis-related hub gene in cutaneous melanoma
Li Y et al.·Hereditas
2021
Epigenetic regulation of triple negative breast cancer (TNBC) by TGF-beta signaling
Vishnubalaji R et al.·Sci Rep
2021
Top 10 full-text resultsSearch PubTator3 ↗

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