SLC12A3

Chr 16q13

solute carrier family 12 member 3

Aliases:: NCCT, NCC, TSC
MANE:: ENST00000563236.6

OMIM: 600968 ↗NCBI: 6559 ↗Ensembl ↗

Annotations refreshed 8 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC12A3 · P55017

v62025-08-01

Predicted Aligned Error matrix for SLC12A3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.7/ 100

Confident

1,021 residues

Confidence breakdown

Very high(≥ 90)46%
Confident(70–90)37%
Low(50–70)5%
Very low(< 50)12%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Ductal plate malformation
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Gitelman syndrome
0.85
hypertensive disorder
0.67
nephrotic syndrome
0.63
Hypertension
0.61
chronic kidney disease
0.61
congestive heart failure
0.61
myocardial infarction
0.60
cardiovascular disorder
0.59
edema
0.58
angina pectoris
0.58

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

Protein function (UniProt)

Solute carrier family 12 member 3

Electroneutral sodium and chloride ion cotransporter, which acts as a key mediator of sodium and chloride reabsorption in kidney distal convoluted tubules (PubMed:18270262, PubMed:21613606, PubMed:22009145, PubMed:36351028, PubMed:36792826). Also acts as a receptor for the pro-inflammatory cytokine IL18, thereby contributing to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2 (By similarity). May act either independently of IL18R1, or in a complex with IL18R1 (By similarity)

Curated MONDO disease pages that list SLC12A3 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with SLC12A3