CCDC6 Gene Summary [Human]
This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]
Details
| Type | Protein Coding |
| Official Symbol | CCDC6 |
| Official Name | coiled-coil domain containing 6 [Source:HGNC Symbol;Acc:HGNC:18782] |
| Ensembl ID | ENSG00000108091 |
| Bio databases IDs | |
| Aliases | coiled-coil domain containing 6, DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1 |
| Synonyms | 2810012H18RIK, coiled-coil domain containing 6, D10S170, H4, LOC687820, PTC, PTC1, TPC, TST1 |
| 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 CCDC6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- structural constituent of cytoskeleton
- Uncharacterized conserved protein H4 (DUF2046)
- coiled-coil domain
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- acute myeloid leukemia
- abnormality of the integument
- osteoarthritis
- Parkinson disease
- preeclampsia
- colorectal cancer
- neoplastic cell transformation
- Hutchinson-Gilford progeria syndrome
role in cell
- proliferation
- apoptosis
- phosphorylation in
- growth
- transformation
- recruitment in
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
- nuclear fraction
- cytoskeleton
- Nucleus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CCDC6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- cytosol
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- structural constituent of cytoskeleton
- SH3 domain binding