CCDC22 Gene Summary [Human]
This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013]
Details
| Type | Protein Coding |
| Official Symbol | CCDC22 |
| Official Name | coiled-coil domain containing 22 [Source:HGNC Symbol;Acc:HGNC:28909] |
| Ensembl ID | ENSG00000101997 |
| Bio databases IDs | |
| Aliases | coiled-coil domain containing 22 |
| Synonyms | coiled-coil domain containing 22, CXorf37, DXImx40e, JM1, Ppp1r3f, RGD1560910, RTSC2, Sfc22 |
| 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 CCDC22 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- coiled-coil domain
- Coiled-coil domain-containing protein 22
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- centriolar satellite
- centrosome
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CCDC22 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
- cellular copper ion homeostasis
- cytoplasmic sequestering of NF-kappaB
- protein transport
- Golgi to plasma membrane transport
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- negative regulation of I-kappaB kinase/NF-kappaB cascade
- endocytic recycling
Cellular Component
Where in the cell the gene product is active
- centrosome
- endosome
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding