KRTCAP3
Keratinocyte Associated Protein 3
Gene Information Card
| Symbol | KRTCAP3 |
|---|---|
| Full Name | keratinocyte associated protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 200185 ncbi.nlm.nih.gov/gene/200185 |
| Ensembl ID | ENSG00000163069 |
| UniProt ID | Q8N5L8 |
| OMIM ID | 616087 |
| HGNC ID | 28944 |
| Aliases | KCP3, KRTAP3 |
Description
KRTCAP3 (keratinocyte associated protein 3) is a protein-coding gene located on chromosome 2q31.1. It encodes a protein that is associated with keratinocytes, the predominant cell type in the epidermis. The exact function of KRTCAP3 is not fully characterized, but it may play a role in keratinocyte biology and skin development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific diseases associated | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.2 | Low |
| Breast | 5.1 | Low |
| Lung | 3.4 | Low |
| Thyroid | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.0 | Keratinocyte cell line |
| A431 (epidermoid carcinoma) | 10.3 | High expression |
| MCF7 (breast cancer) | 4.5 | Moderate |
| HeLa (cervical cancer) | 2.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No known pathogenic mutations | Not applicable | Not reported | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • cellular_component: membrane (GO:0016021) | • biological_process: keratinocyte differentiation (GO:0030216) |
Pathways
• No known pathways
Protein Summary
The KRTCAP3 protein is a membrane-associated protein expressed in keratinocytes. Its precise molecular function remains unclear, but it is thought to be involved in keratinocyte differentiation and skin integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTCAP3 Knockout HEK293 Cell Line | EDJ-KQ4564 | Human | 200634 | Details Get a Quote |
| KRTCAP3 Knockout HCT 116 Cell Line | EDJ-KQ27210 | Human | 200634 | Details Get a Quote |
| KRTCAP3 Knockout HeLa Cell Line | EDJ-KQ27211 | Human | 200634 | Details Get a Quote |
| KRTCAP3 Knockout A-549 Cell Line | EDJ-KQ67490 | Human | 200634 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
