KRTAP12-2: Keratin Associated Protein 12-2
A member of the keratin-associated protein family involved in hair shaft structure and integrity.
Gene Information Card
| Symbol | KRTAP12-2 |
|---|---|
| Full Name | Keratin Associated Protein 12-2 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 100505746 ncbi.nlm.nih.gov/gene/100505746 |
| Ensembl ID | ENSG00000205755 |
| UniProt ID | Q3LI66 |
| OMIM ID | 616888 |
| HGNC ID | 33882 |
| Aliases | KAP12.2, KRTAP12.2 |
Description
KRTAP12-2 (Keratin Associated Protein 12-2) is a protein-coding gene located on chromosome 21q22.11. It encodes a member of the keratin-associated protein (KAP) family, which are structural components of the hair shaft. These proteins crosslink with keratin intermediate filaments to provide strength and rigidity to hair. KRTAP12-2 is specifically expressed in the hair follicle and contributes to hair fiber formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair | Altered KAP expression may disrupt hair shaft structure | Limited evidence; inferred from family studies |
| Monilethrix | Potential involvement in hair fragility | Not directly confirmed; indirect association |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.3 | Not detected |
| Hair follicle | 12.5 | Medium |
| Scalp | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 0.2 | Not detected |
| HEK293 | 0.1 | Not detected |
| Hair follicle dermal papilla cells | 15.3 | Medium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.45C>T | Synonymous | <0.01% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • keratin filament (GO:0045095) |
| • keratinization (GO:0031424) |
Pathways
• Keratinization (Reactome: R-HSA-6805567)
• Formation of the cornified envelope (Reactome: R-HSA-6809371)
Protein Summary
The KRTAP12-2 protein is a small, cysteine-rich keratin-associated protein (KAP) that crosslinks with keratin intermediate filaments in the hair cortex. It contributes to the mechanical strength and rigidity of the hair shaft. The protein is localized to the hair follicle and is expressed during hair growth.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP12-2 Knockout HEK293 Cell Line | EDJ-KQ12006 | Human | 353323 | Details Get a Quote |
| KRTAP12-2 Knockout HeLa Cell Line | EDJ-KQ59872 | Human | 353323 | Details Get a Quote |
| KRTAP12-2 Knockout A-549 Cell Line | EDJ-KQ68336 | Human | 353323 | Details Get a Quote |
| KRTAP12-2 Knockout HCT 116 Cell Line | EDJ-KQ76711 | Human | 353323 | Details Get a Quote |
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