SLC12A7

Chr 5

solute carrier family 12 member 7

Also known as: KCC4

NCBI Gene: 10723ENSG00000113504UniProt: Q9Y666

Enables protein kinase binding activity. Predicted to be involved in several processes, including chloride ion homeostasis; monoatomic ion transmembrane transport; and potassium ion homeostasis. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss · UDNo Known Disease Relationshipno established gene-disease relationship
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.89
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.89LOEUF
pLI 0.000
Z-score 2.23
OE 0.67 (0.51–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.32Z-score
OE missense 0.86 (0.81–0.92)
622 obs / 722.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.51–0.89)
0≤0.351.4
Missense OE?0.86 (0.81–0.92)
0≤0.61.4
Synonymous OE?1.21
0≤1.21.6
LoF obs/exp: 35 / 52.4Missense obs/exp: 622 / 722.0Syn Z: -3.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC12A7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients