PDZD7 Gene: PDZ Domain Containing 7
A scaffold protein implicated in Usher syndrome and hearing loss
Gene Information Card
| Symbol | PDZD7 |
|---|---|
| Full Name | PDZ domain containing 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.31 |
| NCBI Gene ID | 79955 ncbi.nlm.nih.gov/gene/79955 |
| Ensembl ID | ENSG00000107796 |
| UniProt ID | Q9H5P4 |
| OMIM ID | 612971 |
| HGNC ID | 26257 |
| Aliases | DFNB57, USH2C, PDZ domain protein 7 |
Description
PDZD7 encodes a PDZ domain-containing scaffold protein that localizes to the ankle-link region of hair cell stereocilia in the inner ear and to the periciliary membrane of photoreceptors. It is essential for the organization of the Usher syndrome protein complex, which is critical for hearing and vision. Mutations in PDZD7 cause autosomal recessive Usher syndrome type 2C and non-syndromic hearing loss (DFNB57).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Usher syndrome type 2C | Loss of PDZD7 disrupts the ankle-link complex in hair cells and photoreceptor connecting cilium, leading to sensorineural hearing loss and retinitis pigmentosa. | ClinVar, OMIM |
| Non-syndromic hearing loss (DFNB57) | Biallelic PDZD7 mutations cause prelingual, moderate-to-severe hearing loss without retinal involvement. | ClinVar, OMIM |
| Retinitis pigmentosa (isolated) | PDZD7 variants have been reported in cases of non-syndromic retinitis pigmentosa, likely due to photoreceptor dysfunction. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Low |
| Cochlea | 6.5 | Low |
| Retina | 5.1 | Low |
| Brain | 2.3 | Not detected |
| Kidney | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.5 | Low expression |
| ARPE-19 | 1.2 | Retinal pigment epithelial cell line |
| Hair cell (mouse) | N/A | Expressed in stereocilia ankle links |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2236C>T (p.Arg746*) | Nonsense | Rare | Loss of function; truncation of PDZ domains |
| c.1456G>A (p.Gly486Arg) | Missense | Rare | Disrupts protein-protein interaction |
| c.337C>T (p.Arg113Trp) | Missense | Rare | Likely pathogenic in hearing loss |
| c.1298_1299del (p.Glu433Valfs*5) | Frameshift | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that lead to truncated or absent PDZD7 protein, causing Usher syndrome type 2C or DFNB57.
Gain of Function (GOF)
Not reported for PDZD7.
Dominant Negative (DN)
Not reported; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • adherens junction (GO:0005912) |
| • stereocilium (GO:0032420) | • ciliary membrane (GO:0060170) |
| • sensory perception of sound (GO:0007605) | • visual perception (GO:0007601) |
Pathways
• Usher syndrome interactome (ankle-link complex)
• Stereocilia organization and maintenance
Protein Summary
PDZD7 is a 674-amino acid scaffold protein containing multiple PDZ domains. It localizes to the ankle-link region of hair cell stereocilia and the connecting cilium of photoreceptors, where it interacts with other Usher syndrome proteins (e.g., USH2A, VLGR1, WHRN) to maintain structural integrity. Loss of PDZD7 disrupts these complexes, leading to hearing and vision loss.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDZD7 Knockout HEK293 Cell Line | EDJ-KQ14722 | Human | 79955 | Details Get a Quote |
| PDZD7 Knockout A-549 Cell Line | EDJ-KQ45053 | Human | 79955 | Details Get a Quote |
| PDZD7 Knockout HCT 116 Cell Line | EDJ-KQ45054 | Human | 79955 | Details Get a Quote |
| PDZD7 Knockout HeLa Cell Line | EDJ-KQ45055 | Human | 79955 | Details Get a Quote |
| PDZD7 (p.K790E) Point Mutation in A-549 Cell Line | EDC03187 | Human | 79955 | Details Get a Quote |
