CCDC180 Gene Summary [Human]
The protein encoded by this gene contains a coiled-coil domain. Alternative splicing results in multiple transcript variants encoding different isoforms. A single nucleotide polymorphism (SNP) in this gene has been associated with increased susceptibility to Behcet's Disease (PMID: 19442274). [provided by RefSeq, Dec 2016]
Details
| Type | Retained Intron |
| Official Symbol | CCDC180 |
| Official Name | coiled-coil domain containing 180 [Source:HGNC Symbol;Acc:HGNC:29303] |
| Ensembl ID | ENSG00000197816 |
| Bio databases IDs | |
| Aliases | coiled-coil domain containing 180, Behcet's Disease Associated Gene 1 |
| Synonyms | C9orf174, CFAP76, coiled-coil domain containing 180, E230008N13Rik, FAP76, Gm1025 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CCDC180 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain of unknown function (DUF4456)
- Domain of unknown function (DUF4455)
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CCDC180 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome