SLC12A6

Chr 15q14

solute carrier family 12 member 6

Aliases:: KCC3A, KCC3B
MANE:: ENST00000354181.8

OMIM: 604878 ↗NCBI: 9990 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC12A6 · Q9UHW9

v62025-08-01

Predicted Aligned Error matrix for SLC12A6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.9/ 100

Confident

1,150 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)24%
Low(50–70)4%
Very low(< 50)17%

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
Fetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss

Disease associations (Open Targets)

agenesis of the corpus callosum with peripheral neuropathy
0.82
Corpus callosum agenesis - neuronopathy
0.76
Charcot-Marie-Tooth disease, axonal, IIa 2II
0.75
hereditary disease
0.50
Usher syndrome type 1C
0.34
peripheral neuropathy
0.34
Agenesis of corpus callosum
0.27
Hypertelorism
0.27
Clinodactyly of the 5th finger
0.27
Low-set ears
0.27

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

Protein function (UniProt)

Solute carrier family 12 member 6

Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:10600773, PubMed:11551954, PubMed:16048901, PubMed:18566107, PubMed:19665974, PubMed:21628467, PubMed:27485015). May contribute to cell volume homeostasis in single cells (PubMed:16048901, PubMed:27485015)