CFAP20DC
CFAP20 Domain Containing Gene
Gene Information Card
| Symbol | CFAP20DC |
|---|---|
| Full Name | CFAP20 Domain Containing |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 124182 ncbi.nlm.nih.gov/gene/124182 |
| Ensembl ID | ENSG00000163877 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 620424 |
| HGNC ID | 34478 |
| Aliases | MGC13017, bA364O22.1 |
Description
CFAP20DC (CFAP20 Domain Containing) is a protein-coding gene located on chromosome 3p21.31. It encodes a protein of unknown function that contains a CFAP20 domain. The gene is conserved in vertebrates and is expressed in various tissues. Limited functional data are available, and no strong disease associations have been established to date.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease associations | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 3.1 | Low |
| Lung | 2.8 | Low |
| Heart | 2.5 | Low |
| Liver | 1.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Low expression |
| HeLa | 3.5 | Low expression |
| K562 | 2.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | Not applicable | Not applicable | 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：
Protein Summary
The CFAP20DC protein contains a CFAP20 domain, but its specific biological function remains uncharacterized. No structural or functional studies have been published. It is predicted to be cytoplasmic based on sequence analysis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP20DC Knockout HEK293 Cell Line | EDJ-KQ3862 | Human | 200844 | Details Get a Quote |
| CFAP20DC Knockout A-549 Cell Line | EDJ-KQ27296 | Human | 200844 | Details Get a Quote |
| CFAP20DC Knockout HCT 116 Cell Line | EDJ-KQ27297 | Human | 200844 | Details Get a Quote |
| CFAP20DC Knockout HeLa Cell Line | EDJ-KQ27298 | Human | 200844 | Details Get a Quote |
