Pdzd7 Gene Summary [Mouse]
Enables identical protein binding activity. Acts upstream of or within several processes, including auditory receptor cell stereocilium organization; detection of mechanical stimulus involved in sensory perception of sound; and establishment of protein localization. Located in stereocilia ankle link and stereocilium. Part of USH2 complex and stereocilia ankle link complex. Human ortholog(s) of this gene implicated in Usher syndrome type 2A; Usher syndrome type 2C; and autosomal recessive nonsyndromic deafness 57. Orthologous to human PDZD7 (PDZ domain containing 7). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Processed Transcript |
| Official Symbol | Pdzd7 |
| Official Name | PDZ domain containing 7 [Source:MGI Symbol;Acc:MGI:3608325] |
| Ensembl ID | ENSMUSG00000074818 |
| Bio databases IDs | |
| Aliases | PDZ domain containing 7 |
| Synonyms | 9130207N01, DFNB57, EG435601, LOC100132914, LOC681677, LOC689350, PDZ domain containing 7, PDZK7 |
| Species | Mouse, Mus musculus |
| 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 mouse 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 mouse 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