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GeneE
1 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.
KRTAP19-2
keratin associated protein 19-2
Chromosome 21 Β· 21q22.11
NCBI Gene: 337969Ensembl: ENSG00000186965.5HGNC: HGNC:18937UniProt: Q3LHN2
3PubMed Papers
2Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcytosolplacental retentionliver disease
✦AI Summary

KRTAP19-2 is a keratin-associated protein that functions in hair shaft structure and integrity. Based on limited published evidence, KRTAP19-2 is embedded within the hair cortex matrix where it cross-links with hair keratin intermediate filaments through extensive disulfide bonds involving cysteine residues 1. This cross-linking is essential for forming a rigid and resistant hair shaft. The protein exhibits cytosolic localization and demonstrates protein-binding capability. Genetic variation in KRTAP19-2 homologs, including non-synonymous polymorphisms, suggests functional importance in regulating fiber characteristics 1.

Sources cited
1
Identified KRTAP19-2 orthologs in sheep with multiple genetic variants including non-synonymous SNPs, supporting functional relevance of this gene family in hair/wool fiber formation
PMID: 40725111
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜2
placental retentionOpen Targets
0.09Suggestive
liver diseaseOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
KRTAP19-3Protein interaction75%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
KRTAP19-2KRTAP19-3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q3LHN2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.95LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF2.33 [0.69–1.95]
RankingsWhere KRTAP19-2 stands among ~20K protein-coding genes
  • #18,881of 20,598
    Most Researched3
  • #17,693of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedKRTAP19-2
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Characterisation of Four New Genes in the Ovine KAP19 Family.
PMID: 40725111
Int J Mol Sci Β· 2025
1.00