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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.
KRTAP4-2
keratin associated protein 4-2
Chromosome 17 Β· 17q21.2
NCBI Gene: 85291Ensembl: ENSG00000244537.3HGNC: HGNC:18900UniProt: A0AAG2UW37
11PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingidentical protein bindinghair cyclecytosol
✦AI Summary

KRTAP4-2 encodes a keratin-associated protein that localizes to the hair cortex cytosol, where it forms an interfilamentary matrix essential for hair shaft structure. Through extensive disulfide bond cross-linking with cysteine-rich hair keratins, KRTAP4-2 contributes to forming rigid, resistant hair shafts [GO annotations: protein binding, hair cycle]. Based on limited published evidence, KRTAP4-2 has been identified as a potential biomarker in glioblastoma multiforme, with higher expression associated with disease progression 1, and as a variant detected in mature cystic teratomas of the ovary 2.

Sources cited
1
KRTAP4-2 identified as a potential biomarker in glioblastoma multiforme with elevated expression linked to disease progression
PMID: 37482563
2
KRTAP4-2 variants detected in mature cystic teratomas of the ovary, potentially contributing to teratoma formation
PMID: 36289533
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
LOC100996750Shared pathway100%KRTAP4-9Shared pathway100%KRTAP4-11Shared pathway100%KRTAP4-16Shared pathway100%KRTAP4-12Protein interaction92%KRTAP4-4Protein interaction90%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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KRTAP4-2LOC100996750KRTAP4-9KRTAP4-11KRTAP4-16KRTAP4-12KRTAP4-4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9BYR5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.85LoF Tolerant
pLIβ“˜
0.33Tolerant
Observed/Expected LoF0.00 [0.00–1.85]
RankingsWhere KRTAP4-2 stands among ~20K protein-coding genes
  • #16,802of 20,598
    Most Researched11
  • #16,882of 17,882
    Most Constrained (LOEUF)1.85
Genes detectedKRTAP4-2
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Gene co-expression network construction and analysis for identification of genetic biomarkers associated with glioblastoma multiforme using topological findings.
PMID: 37482563
J Egypt Natl Canc Inst Β· 2023
1.00
2
DUSP5 and PHLDA1 mutations in mature cystic teratomas of the ovary identified on whole-exome sequencing may explain teratoma characteristics.
PMID: 36289533
Hum Genomics Β· 2022
0.50