GIPC3 Gene Summary [Human]
The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | GIPC3 |
| Official Name | GIPC PDZ domain containing family member 3 [Source:HGNC Symbol;Acc:HGNC:18183] |
| Ensembl ID | ENSG00000179855 |
| Bio databases IDs | |
| Aliases | GIPC PDZ domain containing family member 3 |
| Synonyms | Ahl5, C19orf64, DFNB15, DFNB72, DFNB95, GIPC PDZ domain containing family member 3, GIPC PDZ domain containing family, member 3, RGD1563255, RGS19IP3 |
| 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 GIPC3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain present in PSD-95, Dlg, and ZO-1/2
- GIPC homology 2 (GH2) domain-like family
- canonical PDZ domain
- protein binding
- PDZ domain
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.
- Unknown
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GIPC3 gene, providing context for its role in the cell.
Molecular Function
What the gene product does at the molecular level
- protein binding