PDZD7

Chr 10q24.31

PDZ domain containing 7

Aliases:: FLJ23209, bA108L7.8
MANE:: ENST00000619208.6

OMIM: 612971 ↗NCBI: 79955 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PDZD7 · Q9H5P4

v62025-08-01

Predicted Aligned Error matrix for PDZD7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

56.7/ 100

Low

1,033 residues

Confidence breakdown

Very high(≥ 90)14%
Confident(70–90)23%
Low(50–70)7%
Very low(< 50)56%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)
Retinal disorders
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hearing loss, autosomal recessive 57
0.74
Usher syndrome type 2
0.63
Usher syndrome
0.62
Usher syndrome type 2A
0.56
hearing loss, autosomal recessive
0.54
deafness
0.50
Hearing impairment
0.46
hereditary disease
0.41
Retinal dystrophy
0.40
autosomal dominant nonsyndromic hearing loss
0.40

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

PDZ domain-containing protein 7

In cochlear developing hair cells, essential in organizing the USH2 complex at stereocilia ankle links. Blocks inhibition of adenylate cyclase activity mediated by ADGRV1