CABP4 Gene Summary [Human]
This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Details
| Type | Processed Transcript |
| Official Symbol | CABP4 |
| Official Name | calcium binding protein 4 [Source:HGNC Symbol;Acc:HGNC:1386] |
| Ensembl ID | ENSG00000175544 |
| Bio databases IDs | |
| Aliases | calcium binding protein 4 |
| Synonyms | calcium binding protein 4, CRSD, CSNB2B |
| 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 CABP4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- EF-hand, calcium binding motif
- EF-hand domain
- EF-hand domain pair
- EF hand
- EF-hand, calcium binding motif, found in parvalbumin-like EF-hand family
- calcium ion binding
- ion channel binding
- EFh
- EFh_MICU
- EFh_PI-PLC
- Dockerin repeat domains and domains resembling dockerin repeats
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.
- cytosol
- synapse
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CABP4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retinal bipolar neuron differentiation
- photoreceptor cell morphogenesis
- signal transduction
- visual perception
- retinal cone cell development
- phototransduction
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- terminal button
- cytosol
- synapse
- extracellular region
Molecular Function
What the gene product does at the molecular level
- calcium ion binding
- calcium channel regulator activity
- ion channel binding