B9D2 Gene Summary [Human]
This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | B9D2 |
| Official Name | B9 domain containing 2 [Source:HGNC Symbol;Acc:HGNC:28636] |
| Ensembl ID | ENSG00000123810 |
| Bio databases IDs | |
| Aliases | B9 domain containing 2 |
| Synonyms | B9 domain containing 2, B9 protein domain 2, ICIS-1, JBTS34, MGC4093, MKS10, MKSR-2, RGD1566122, stumpy |
| 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 B9D2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- gamma-tubulin binding
- Ciliary basal body-associated, B9 protein
- 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
- ciliary transition zone
- cellular membrane
- basal bodies
- centrosome
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human B9D2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- centrosome
- cilium basal body
- membrane
- cytosol
- TCTN-B9D complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- gamma-tubulin binding