SLC12A2

Chr 5q23.3

solute carrier family 12 member 2

Aliases:: NKCC1, BSC2, BSC-2, PPP1R141, CCC1
MANE:: ENST00000262461.7

OMIM: 600840 ↗NCBI: 6558 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC12A2 · P55011

v62025-08-01

Predicted Aligned Error matrix for SLC12A2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.1/ 100

Confident

1,212 residues

Confidence breakdown

Very high(≥ 90)38%
Confident(70–90)31%
Low(50–70)5%
Very low(< 50)26%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Familial Meniere Disease

Disease associations (Open Targets)

Delpire-McNeill syndrome
0.73
hearing loss, autosomal dominant 78
0.68
Kilquist syndrome
0.66
Varicose veins
0.50
Intellectual disability
0.50
hearing loss disorder
0.49
Abnormality of the skeletal system
0.49
cellulitis
0.44
hypothyroidism
0.44
hereditary disease
0.42

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

Protein function (UniProt)

Solute carrier family 12 member 2

Cation-chloride cotransporter which mediates the electroneutral transport of chloride, potassium and/or sodium ions across the membrane (PubMed:16669787, PubMed:32081947, PubMed:32294086, PubMed:33597714, PubMed:35585053, PubMed:36239040, PubMed:36306358, PubMed:7629105). Plays a vital role in the regulation of ionic balance and cell volume (PubMed:16669787, PubMed:32081947, PubMed:32294086, PubMed:7629105)