CDH23

Chr 10q22.1

cadherin related 23

Aliases:: CDHR23
MANE:: ENST00000224721.12

OMIM: 605516 ↗NCBI: 64072 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CDH23 · Q9H251-6isoform

No predicted structure exists for the canonical Q9H251 sequence; metrics below describe this isoform.

v62025-08-01

Predicted Aligned Error matrix for CDH23 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.8/ 100

Confident

1,212 residues

Confidence breakdown

Very high(≥ 90)25%
Confident(70–90)62%
Low(50–70)3%
Very low(< 50)9%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Primary ciliary disorders
Rare multisystem ciliopathy disorders
Skeletal dysplasia

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Disease associations (Open Targets)

Usher syndrome
0.78
Usher syndrome type 1
0.76
hearing loss, autosomal recessive
0.75
deafness
0.72
pituitary gland adenoma
0.62
nonsyndromic genetic hearing loss
0.59
pituitary adenoma 5, multiple types
0.57
Rare genetic deafness
0.57
Retinal dystrophy
0.55
Sensorineural hearing impairment
0.54

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

Protein function (UniProt)

Cadherin-23

Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing

Curated MONDO disease pages that list CDH23 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with CDH23