PDZD7 Gene Summary [Human]
This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
Details
| Type | Protein Coding |
| Official Symbol | PDZD7 |
| Official Name | PDZ domain containing 7 [Source:HGNC Symbol;Acc:HGNC:26257] |
| Ensembl ID | ENSG00000186862 |
| Bio databases IDs | |
| Aliases | PDZ domain containing 7 |
| Synonyms | 9130207N01, DFNB57, EG435601, LOC100132914, LOC681677, LOC689350, PDZ domain containing 7, PDZK7 |
| 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 PDZD7 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
- harmonin_N_like
- canonical PDZ domain
- protein binding
- PDZ domain
- proline rich domain
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive deafness type 57
- type IIC Usher syndrome
- hereditary disorder
- Usher syndrome type 2A
- hearing loss
- familial nonsyndromic hearing impairment
- retinal dystrophy
- autosomal recessive deafness
- Usher syndrome
- ear malformation
role in cell
- formation 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.
- Extracellular Space
- cilia
- Nucleus
- basal bodies
- stereocilia
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PDZD7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- establishment of protein localization
- auditory receptor cell stereocilium organization
- inner ear receptor cell differentiation
- establishment of localization in cell
- detection of mechanical stimulus involved in sensory perception of sound
- auditory receptor cell development
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular space
- cilium
- stereocilia ankle link
- stereocilium
- stereocilia ankle link complex
- stereocilium bundle tip
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding