SDCCAG8 Gene Summary [Human]
This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]
Details
| Type | Processed Transcript |
| Official Symbol | SDCCAG8 |
| Official Name | SHH signaling and ciliogenesis regulator SDCCAG8 [Source:HGNC Symbol;Acc:HGNC:10671] |
| Ensembl ID | ENSG00000054282 |
| Bio databases IDs | |
| Aliases | SHH signaling and ciliogenesis regulator SDCCAG8, centrosomal colon cancer autoantigen protein, Bardet-Biedl syndrome 16, nephrocystin 10, Senior-Loken syndrome 7 |
| Synonyms | 2700048G21Rik, 5730470G24Rik, BBS16, CCCAP, CCCAP SLSN7, hCCCAP, HSPC085, LOC102724256, LOC305002, NPHP10, NY-CO-8, serologically defined colon cancer antigen 8, SHH signaling and ciliogenesis regulator SDCCAG8, SLSN7 |
| 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 SDCCAG8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Centrosomal colon cancer autoantigen protein family
- protein binding
- Calcium binding and coiled-coil domain (CALCOCO1) like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- obesity
- schizophrenia
- SDCCAG8-related disorder
- Bardet-Biedl syndrome type 16
- chronic kidney disease
- renal dysplasia and retinal aplasia
- Senior-Loken syndrome 7
- cystic kidney disease
- metabolic syndrome X
role in cell
- assembly
- formation
- formation in
- migration
- organization
- organization 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
- centriolar satellite
- non-motile cilium
- cilia
- basal bodies
- centrosome
- centriole
- intercellular junctions
- cytosol
- nucleoplasm
- neurites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SDCCAG8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuron migration
- centrosome cycle
- cell projection organization
- establishment of cell polarity
- microtubule organizing center organization
- tube formation
Cellular Component
Where in the cell the gene product is active
- centrosome
- cell-cell junction
- cilium basal body
- centriole
- centriolar satellite
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding