KRTAP2-4: Keratin Associated Protein 2-4 Gene
A structural component of hair keratin, implicated in hair shaft integrity and potential cancer-related expression changes.
Gene Information Card
| Symbol | KRTAP2-4 |
|---|---|
| Full Name | Keratin Associated Protein 2-4 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 337879 ncbi.nlm.nih.gov/gene/337879 |
| Ensembl ID | ENSG00000206177 |
| UniProt ID | Q9BYR8 |
| OMIM ID | 616249 |
| HGNC ID | 18938 |
| Aliases | KAP2.4, KRTAP2.4 |
Description
KRTAP2-4 encodes a keratin-associated protein (KAP) that is a component of the hair fiber. KAPs are structural proteins that cross-link with keratin intermediate filaments to form the rigid structure of hair. KRTAP2-4 is part of the high-sulfur KAP family, characterized by a high cysteine content, which contributes to disulfide bonding and mechanical strength of hair. The gene is located in a cluster of KAP genes on chromosome 17q21.2. Expression is primarily in the hair follicle, and alterations may affect hair structure or be associated with certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hair shaft disorders | Potential structural defects due to altered KAP expression or mutations, though specific evidence is limited. | Inferred from protein function; no direct clinical association reported in major databases. |
| Cancer (e.g., breast, lung) | Aberrant expression of KRTAP2-4 has been observed in some tumors, possibly due to epigenetic dysregulation, but functional role is unclear. | Expression data from COSMIC and literature; not a validated biomarker. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | Not available | Low expression expected; not well characterized. |
| Hair follicle | Not available | Primary site of expression; high levels in hair cortex. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | Not available | Keratinocyte cell line; may express KRTAP2-4 at low levels. |
| MCF7 (breast cancer) | Not available | Expression may be altered in cancer cell lines; not well documented. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs143047955 | SNV (missense) | 0.1% (global) | Potential impact on protein structure; no known disease association. |
| rs201430792 | SNV (synonymous) | 0.05% | No functional effect. |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized; likely not critical for viability.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not applicable; no evidence.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of skin epidermis | • protein binding |
| • keratin filament binding |
Pathways
• Keratinization
• Formation of the cornified envelope
Protein Summary
The KRTAP2-4 protein is a small, cysteine-rich protein (approximately 10 kDa) that belongs to the high-sulfur keratin-associated protein family. It contains multiple cysteine residues that form disulfide bonds with keratin intermediate filaments, contributing to the mechanical rigidity and water resistance of hair. The protein is localized in the hair cortex and is essential for proper hair shaft formation. Its expression is regulated during hair follicle differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP2-4 Knockout HEK293 Cell Line | EDJ-KQ10327 | Human | 85294 | Details Get a Quote |
| KRTAP2-4 Knockout HeLa Cell Line | EDJ-KQ57699 | Human | 85294 | Details Get a Quote |
| KRTAP2-4 Knockout A-549 Cell Line | EDJ-KQ66200 | Human | 85294 | Details Get a Quote |
| KRTAP2-4 Knockout HCT 116 Cell Line | EDJ-KQ74627 | Human | 85294 | Details Get a Quote |
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