SLC9A3

Chr 5p15.33

solute carrier family 9 member A3

Aliases:: NHE-3
MANE:: ENST00000264938.8

OMIM: 182307 ↗NCBI: 6550 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC9A3 · P48764

v62025-08-01

Predicted Aligned Error matrix for SLC9A3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.9/ 100

Low

834 residues

Confidence breakdown

Very high(≥ 90)17%
Confident(70–90)39%
Low(50–70)12%
Very low(< 50)33%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intestinal failure or congenital diarrhoea
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal epithelial barrier disorders
BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital sodium diarrhea
0.65
hyperphosphatemia
0.51
irritable bowel syndrome
0.51
neurodegenerative disease
0.47
Constipation
0.45
cystic fibrosis
0.38
chronic kidney disease
0.37
constipation disorder
0.37
autism spectrum disorder
0.33
alcohol drinking
0.32

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

Protein function (UniProt)

Sodium/hydrogen exchanger 3

Plasma membrane Na(+)/H(+) antiporter (PubMed:18829453, PubMed:26358773, PubMed:35613257). Exchanges intracellular H(+) ions for extracellular Na(+) in 1:1 stoichiometry, playing a key role in salt and fluid absorption and pH homeostasis (By similarity). Major apical Na(+)/H(+) exchanger in kidney and intestine playing an important role in renal and intestine Na(+) absorption and blood pressure regulation (PubMed:24622516, PubMed:26358773)