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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KRTAP20-2
keratin associated protein 20-2
Chromosome 21 Β· 21q22.11
NCBI Gene: 337976Ensembl: ENSG00000184032.3HGNC: HGNC:18944UniProt: Q3LI61
3PubMed Papers
3Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
cytosolalopeciaShockliver disease
✦AI Summary

Based on limited published evidence, KRTAP20-2 encodes a keratin-associated protein (KRTAP) essential for hair shaft structure. In the hair cortex, KRTAP20-2 is embedded within the interfilamentary matrix where it cross-links with hair keratin through extensive disulfide bonding via abundant cysteine residues, contributing to hair rigidity and resistance 1. The protein is expressed in hair follicles and localized to the cytosol. Genetic variation in KRTAP20-2 associates with cashmere fiber traits and wool production characteristics, suggesting potential as a genetic marker for fiber quality improvement 12.

Sources cited
1
KRTAP20-2 gene variants affect cashmere fiber weight and curly fiber length in goats; expressed in hair follicles
PMID: 29149036
2
KRTAP20-2 identified as candidate gene associated with wool crimp production traits in sheep
PMID: 34861880
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜3
alopeciaOpen Targets
0.02Suggestive
ShockOpen Targets
0.02Suggestive
liver diseaseOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
KRTAP22-1Protein interaction88%SCYGR1Protein interaction87%KRTAP15-1Protein interaction84%KRTAP24-1Protein interaction83%KRTAP6-1Protein interaction81%KRTAP26-1Protein interaction80%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
KRTAP20-2KRTAP22-1SCYGR1KRTAP15-1KRTAP24-1KRTAP6-1KRTAP26-1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q3LI61
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.89LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.28 [0.70–1.89]
RankingsWhere KRTAP20-2 stands among ~20K protein-coding genes
  • #18,884of 20,598
    Most Researched3
  • #17,241of 17,882
    Most Constrained (LOEUF)1.89
Genes detectedKRTAP20-2
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Identification of the Caprine Keratin-Associated Protein 20-2 (KAP20-2) Gene and Its Effect on Cashmere Traits.
PMID: 29149036
Genes (Basel) Β· 2017
1.00
2
Signature selection analysis reveals candidate genes associated with production traits in Iranian sheep breeds.
PMID: 34861880
BMC Vet Res Β· 2021
0.50