CCDC71 (Coiled-Coil Domain Containing 71)
A gene encoding a coiled-coil domain-containing protein with potential roles in cellular organization and signaling.
Gene Information Card
| Symbol | CCDC71 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 71 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 285600 ncbi.nlm.nih.gov/gene/285600 |
| Ensembl ID | ENSG00000163738 |
| UniProt ID | Q8N6M0 |
| OMIM ID | 618629 |
| HGNC ID | 26709 |
| Aliases | MGC13125, bA203J24.3 |
Description
CCDC71 is a protein-coding gene located on chromosome 3p21.31. It encodes a protein containing a coiled-coil domain, which is often involved in protein-protein interactions, structural organization, and signaling. The precise biological function of CCDC71 remains under investigation, but it is expressed in various tissues and may play roles in cellular architecture and molecular transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence from ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Thyroid | 4.8 | Low |
| Adrenal gland | 4.5 | Low |
| Prostate | 4.3 | Low |
| Lung | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.1 | Moderate expression in kidney-derived cells |
| HeLa | 5.0 | Moderate expression in cervical cancer cells |
| K562 | 4.2 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential start codon loss; functional impact unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Rare variant; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
Protein Summary
The CCDC71 protein (UniProt Q8N6M0) is 234 amino acids long and contains a coiled-coil domain. Coiled-coil domains mediate oligomerization and interactions with other proteins. The protein is localized in the cytoplasm and may be involved in cytoskeletal organization or vesicle trafficking. Its exact function remains to be fully elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC71 Knockout HEK293 Cell Line | EDJ-KQ12761 | Human | 64925 | Details Get a Quote |
| CCDC71L Knockout HEK293 Cell Line | EDJ-KQ12762 | Human | 168455 | Details Get a Quote |
| CCDC71 Knockout A-549 Cell Line | EDJ-KQ40619 | Human | 64925 | Details Get a Quote |
| CCDC71 Knockout HCT 116 Cell Line | EDJ-KQ41884 | Human | 64925 | Details Get a Quote |
| CCDC71 Knockout HeLa Cell Line | EDJ-KQ41885 | Human | 64925 | 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 |
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