KRTAP22-2: Keratin Associated Protein 22-2
A member of the keratin-associated protein family involved in hair shaft formation
Gene Information Card
| Symbol | KRTAP22-2 |
|---|---|
| Full Name | Keratin Associated Protein 22-2 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 100288175 ncbi.nlm.nih.gov/gene/100288175 |
| Ensembl ID | ENSG00000205643 |
| UniProt ID | Q3LI66 |
| OMIM ID | 616258 |
| HGNC ID | 33879 |
| Aliases | KAP22.2, KRTAP22.2 |
Description
KRTAP22-2 encodes a member of the keratin-associated protein (KAP) family, which are structural proteins that form a matrix around the keratin intermediate filaments in hair fibers. This gene is specifically expressed in the hair cortex and contributes to the mechanical properties and rigidity of the hair shaft.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair (possible association) | Altered KAP expression may disrupt hair shaft structure | Limited; inferred from KAP family function |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin (scalp) | Not available | High (based on RNA-seq in hair follicles) |
| Hair follicle | Not available | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | Not available | Low to moderate |
| NHEK (normal human epidermal keratinocytes) | Not available | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations in COSMIC or ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants
Gain of Function (GOF)
No documented gain-of-function variants
Dominant Negative (DN)
No documented dominant-negative variants
View complete mutation data：
Protein Summary
The KRTAP22-2 protein is a small, cysteine-rich keratin-associated protein that crosslinks with keratin intermediate filaments in the hair cortex, contributing to the structural integrity and stiffness of hair. It is part of the high-sulfur KAP family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP22-2 Knockout HEK293 Cell Line | EDJ-KQ12057 | Human | 100288287 | Details Get a Quote |
| KRTAP22-2 Knockout HeLa Cell Line | EDJ-KQ60870 | Human | 100288287 | Details Get a Quote |
| KRTAP22-2 Knockout A-549 Cell Line | EDJ-KQ69344 | Human | 100288287 | Details Get a Quote |
| KRTAP22-2 Knockout HCT 116 Cell Line | EDJ-KQ77698 | Human | 100288287 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
