KRTAP20-2: Keratin Associated Protein 20-2
A member of the high-sulfur keratin-associated protein family involved in hair shaft formation.
Gene Information Card
| Symbol | KRTAP20-2 |
|---|---|
| Full Name | Keratin Associated Protein 20-2 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 337974 ncbi.nlm.nih.gov/gene/337974 |
| Ensembl ID | ENSG00000205799 |
| UniProt ID | Q3LI66 |
| OMIM ID | 616258 |
| HGNC ID | 33894 |
| Aliases | KAP20.2, KRTAP20.2 |
Description
KRTAP20-2 (Keratin Associated Protein 20-2) is a protein-coding gene located on chromosome 21q22.11. It belongs to the high-sulfur keratin-associated protein (KAP) family, which crosslinks with keratin intermediate filaments to form the rigid hair shaft. The encoded protein is rich in cysteine and contributes to the mechanical strength and structure of hair.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair | Mutations in KRTAP genes disrupt hair shaft integrity, leading to abnormal hair texture. | OMIM: 616258 |
| Hair shaft disorders | Altered KAP expression affects keratin crosslinking, causing structural hair defects. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.0 | Not detected |
| Hair follicle | High | High |
| Scalp | High | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 0.0 | Not expressed |
| Hair follicle dermal papilla cells | High | Expressed in hair-specific cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown functional effect |
| c.123C>T | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations likely lead to truncated protein and loss of hair shaft crosslinking.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • keratin filament (GO:0045095) |
| • keratinization (GO:0031424) | • extracellular region (GO:0005576) |
Pathways
• Keratinization (Reactome: R-HSA-6805567)
• Formation of the cornified envelope (Reactome: R-HSA-6809371)
Protein Summary
The KRTAP20-2 protein is a high-sulfur keratin-associated protein (KAP) of approximately 10 kDa, rich in cysteine residues. It crosslinks with keratin intermediate filaments in the hair cortex, contributing to the mechanical rigidity and structural integrity of the hair shaft. It is specifically expressed in hair follicles and scalp tissue.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP20-2 Knockout HEK293 Cell Line | EDJ-KQ14011 | Human | 337976 | Details Get a Quote |
| KRTAP20-2 Knockout HeLa Cell Line | EDJ-KQ59598 | Human | 337976 | Details Get a Quote |
| KRTAP20-2 Knockout A-549 Cell Line | EDJ-KQ68063 | Human | 337976 | Details Get a Quote |
| KRTAP20-2 Knockout HCT 116 Cell Line | EDJ-KQ76440 | Human | 337976 | Details Get a Quote |
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