CCDC74A: Coiled-Coil Domain Containing 74A
A gene encoding a coiled-coil domain-containing protein with potential roles in cellular organization and signaling.
Gene Information Card
| Symbol | CCDC74A |
|---|---|
| Full Name | Coiled-Coil Domain Containing 74A |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 80760 ncbi.nlm.nih.gov/gene/80760 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q9H6R3 |
| OMIM ID | 618509 |
| HGNC ID | 26776 |
| Aliases | FLJ22662, MGC13017 |
Description
CCDC74A is a protein-coding gene located on chromosome 16p13.3. It encodes a protein containing a coiled-coil domain, which is often involved in protein-protein interactions and structural organization. The precise biological function of CCDC74A is not fully characterized, but it may play roles in cellular architecture and signaling pathways. Expression data suggest broad tissue distribution with variable levels.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Low |
| Lung | 6.1 | Low |
| Brain | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Moderate expression |
| K562 | 7.5 | Low expression |
| HepG2 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.01% (gnomAD) | Potential loss of start codon |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • identical protein binding (GO:0042802) |
Pathways
• No curated pathways available
Protein Summary
The CCDC74A protein (UniProt Q9H6R3) is 374 amino acids long and contains a coiled-coil domain. It is predicted to localize to the cytoplasm and may participate in protein-protein interactions. Structural predictions suggest alpha-helical regions typical of coiled-coil proteins. No enzymatic function has been assigned.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC74A Knockout HEK293 Cell Line | EDJ-KQ10615 | Human | 90557 | Details Get a Quote |
| CCDC74A Knockout A-549 Cell Line | EDJ-KQ38108 | Human | 90557 | Details Get a Quote |
| CCDC74A Knockout HCT 116 Cell Line | EDJ-KQ38109 | Human | 90557 | Details Get a Quote |
| CCDC74A Knockout HeLa Cell Line | EDJ-KQ38110 | Human | 90557 | Details Get a Quote |
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