SLC26A4

Chr 7q22.3

solute carrier family 26 member 4

Aliases:: PDS
MANE:: ENST00000644269.2

OMIM: 605646 ↗NCBI: 5172 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC26A4 · O43511

v62025-08-01

Predicted Aligned Error matrix for SLC26A4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.8/ 100

Confident

780 residues

Confidence breakdown

Very high(≥ 90)51%
Confident(70–90)31%
Low(50–70)7%
Very low(< 50)11%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital hypothyroidism
BIALLELIC, autosomal or pseudoautosomal
Deafness and congenital structural abnormalities
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Familial Meniere Disease

Disease associations (Open Targets)

Pendred syndrome
0.85
autosomal recessive nonsyndromic hearing loss 4
0.82
hearing loss, autosomal recessive
0.65
deafness
0.57
Rare genetic deafness
0.55
Hearing impairment
0.53
hereditary disease
0.51
Sensorineural hearing impairment
0.50
ear malformation
0.48
Abnormality of the ear
0.48

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

Protein function (UniProt)

Pendrin

Sodium-independent transporter of chloride and iodide (PubMed:10192399, PubMed:11932316, PubMed:12107249, PubMed:16684826, PubMed:24051746). Mediates electroneutral chloride-bicarbonate, chloride-iodide and chloride-formate exchange with 1:1 stoichiometry (PubMed:10644529, PubMed:15155570, PubMed:24051746, PubMed:35601831). Mediates electroneutral iodide-bicarbonate exchange (By similarity)