SLC26A3

Chr 7q22.3-q31.1

solute carrier family 26 member 3

MANE:: ENST00000340010.10

OMIM: 126650 ↗NCBI: 1811 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC26A3 · P40879

v62025-08-01

Predicted Aligned Error matrix for SLC26A3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.1/ 100

Confident

764 residues

Confidence breakdown

Very high(≥ 90)59%
Confident(70–90)30%
Low(50–70)5%
Very low(< 50)7%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea
BIALLELIC, autosomal or pseudoautosomal
GI tract tumours

Disease associations (Open Targets)

congenital secretory chloride diarrhea 1
0.82
Congenital chloride diarrhea
0.78
hydrops fetalis
0.48
Polyhydramnios
0.46
ulcerative colitis
0.44
intestinal obstruction
0.43
cholelithiasis
0.42
inflammatory bowel disease
0.39
Secretory diarrhea
0.37
Cholecystitis
0.34

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

Protein function (UniProt)

Chloride anion exchanger

Mediates chloride-bicarbonate exchange with a chloride bicarbonate stoichiometry of 2:1 in the intestinal epithelia (PubMed:16606687, PubMed:19321737, PubMed:22159084, PubMed:22627094). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (By similarity)

Curated MONDO disease pages that list SLC26A3 among their top associated genes.

hydrops fetalisRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with SLC26A3