KRTCAP2
Keratinocyte Associated Protein 2
Gene Information Card
| Symbol | KRTCAP2 |
|---|---|
| Full Name | keratinocyte associated protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 83938 ncbi.nlm.nih.gov/gene/83938 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q8N4N8 |
| OMIM ID | 611687 |
| HGNC ID | 28938 |
| Aliases | KCP2, KRTAP2-2 |
Description
KRTCAP2 (keratinocyte associated protein 2) is a protein-coding gene located on chromosome 1q21.3. It encodes a component of the keratinocyte cornified envelope and is involved in epidermal differentiation. The gene is also known as KCP2 or KRTAP2-2.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epidermolytic hyperkeratosis | Mutations in KRTCAP2 may disrupt keratinocyte integrity | ClinVar |
| Ichthyosis | Altered cornified envelope formation | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.3 | Low |
| Oral mucosa | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.2 | High expression |
| A431 (epidermoid carcinoma) | 10.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200G>A (p.Arg67His) | Missense | Rare | Unknown |
| c.347C>T (p.Pro116Leu) | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not well characterized
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • keratinocyte differentiation | • cornified envelope |
| • structural molecule activity |
Pathways
• Keratinization
• Formation of the cornified envelope
Protein Summary
The KRTCAP2 protein is a small, proline-rich component of the cornified envelope in keratinocytes. It contributes to the barrier function of the epidermis by cross-linking with other envelope proteins during terminal differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTCAP2 Knockout HEK293 Cell Line | EDJ-KQ4415 | Human | 200185 | Details Get a Quote |
| KRTCAP2 Knockout A-549 Cell Line | EDJ-KQ26941 | Human | 200185 | Details Get a Quote |
| KRTCAP2 Knockout HCT 116 Cell Line | EDJ-KQ26942 | Human | 200185 | Details Get a Quote |
| KRTCAP2 Knockout HeLa Cell Line | EDJ-KQ26943 | Human | 200185 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
