SLC4A4

Chr 4q13.3

solute carrier family 4 member 4

Aliases:: NBC1, HNBC1, NBC2, pNBC, hhNMC
MANE:: ENST00000264485.11

OMIM: 603345 ↗NCBI: 8671 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC4A4 · Q9Y6R1

v62025-08-01

Predicted Aligned Error matrix for SLC4A4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.6/ 100

Confident

1,079 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)48%
Low(50–70)12%
Very low(< 50)24%

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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive proximal renal tubular acidosis
0.81
atrial fibrillation
0.47
alcohol drinking
0.42
Abnormality of the skeletal system
0.35
bacterial arthritis
0.31
arthropathy
0.29
endocrine system disorder
0.29
idiopathic pulmonary arterial hypertension
0.29
ovarian neoplasm
0.29
cystic kidney disease
0.27

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

Protein function (UniProt)

Electrogenic sodium bicarbonate cotransporter 1

Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH