CCDC71L Gene - Coiled-Coil Domain Containing 71 Like
Comprehensive genomic and functional overview of CCDC71L
Gene Information Card
| Symbol | CCDC71L |
|---|---|
| Full Name | Coiled-Coil Domain Containing 71 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 7p15.3 |
| NCBI Gene ID | 285600 ncbi.nlm.nih.gov/gene/285600 |
| Ensembl ID | ENSG00000206527 |
| UniProt ID | Q8N6M3 |
| OMIM ID | Not assigned |
| HGNC ID | HGNC:33897 |
| Aliases | MGC13057, dJ104K21.2 |
Description
CCDC71L (Coiled-Coil Domain Containing 71 Like) is a protein-coding gene located on chromosome 7p15.3. The encoded protein contains a coiled-coil domain, which is often involved in protein-protein interactions and structural organization. The precise biological function of CCDC71L remains under investigation, but it is predicted to play a role in cellular architecture or signaling. Expression data indicate low to moderate levels in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.3 | Low |
| Thyroid | 1.8 | Low |
| Prostate | 1.5 | Low |
| Lung | 1.2 | Low |
| Brain | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.1 | Low expression |
| HeLa | 0.8 | Low expression |
| K562 | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | Not applicable | Not applicable | Not applicable |
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 CCDC71L protein (UniProt Q8N6M3) is 213 amino acids long and contains a coiled-coil domain. Its exact molecular function is not yet characterized, but it is predicted to be involved in protein-protein interactions. No enzymatic activity or known functional motifs have been reported.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC71L Knockout HEK293 Cell Line | EDJ-KQ12762 | Human | 168455 | Details Get a Quote |
| CCDC71L Knockout A-549 Cell Line | EDJ-KQ41886 | Human | 168455 | Details Get a Quote |
| CCDC71L Knockout HCT 116 Cell Line | EDJ-KQ41887 | Human | 168455 | Details Get a Quote |
| CCDC71L Knockout HeLa Cell Line | EDJ-KQ41888 | Human | 168455 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
