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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC12A9
solute carrier family 12 member 9
Chromosome 7 · 7q22.1
NCBI Gene: 56996Ensembl: ENSG00000146828.19HGNC: HGNC:17435UniProt: Q9BXP2
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeapical plasma membranepotassium:chloride symporter activitypotassium ion transmembrane transportCapillary malformation - arteriovenous malformationhair colorlymphatic malformation 7ciliopathy
✦AI Summary

SLC12A9 is a lysosomal solute cotransporter that functions as a potassium-chloride symporter essential for maintaining lysosomal ion homeostasis 1. The protein localizes to the lysosomal membrane 2 and plays a central role in controlling ammonium and chloride levels within lysosomes, protecting cells from ammonia toxicity—a byproduct of cellular metabolism that accumulates in acidic lysosomes 1. SLC12A9 operates as a subunit of a multimeric transport system requiring additional subunits for full function 3. Loss-of-function variants cause lysosomal dysfunction characterized by organelle enlargement and impaired ammonium handling 12. Clinically, biallelic SLC12A9 mutations cause a syndromic neurodevelopmental disorder featuring intellectual disability, skeletal abnormalities, congenital heart defects, and hypopigmented hair 2. Beyond lysosomal physiology, SLC12A9 overexpression is associated with poor prognosis in uveal melanoma and colorectal cancer 45, suggesting roles in cancer metabolism. A rare SLC12A9 variant was identified in complex regional pain syndrome type 1 patients, implicating genetic predisposition 6. This gene represents a fundamental mechanism of lysosomal physiology particularly relevant in high-ammonia environments such as tumors.

Sources cited
1
SLC12A9 is a lysosomal-resident protein controlling ammonium and chloride levels; SLC12A9 knockout causes enlarged lysosomes with elevated ammonium content
PMID: 39476838
2
Biallelic loss-of-function variants of SLC12A9 cause neurodevelopmental disorder with intellectual disability, skeletal/brain abnormalities, and congenital heart defects; SLC12A9 localizes to lysosomal membrane
PMID: 38334070
3
High SLC12A9 expression associated with unfavorable prognosis in uveal melanoma
PMID: 36925204
4
SLC12A9 upregulated in colorectal cancer with worse prognosis in overexpressing patients
PMID: 38157260
5
Rare SLC12A9 variant rs80308281 associated with complex regional pain syndrome type 1
PMID: 37816627
6
SLC12A9 corresponds to a subunit of a multimeric transport system
PMID: 10871601
Disease Associationsⓘ20
Capillary malformation - arteriovenous malformationOpen Targets
0.45Moderate
hair colorOpen Targets
0.35Weak
lymphatic malformation 7Open Targets
0.34Weak
ciliopathyOpen Targets
0.26Weak
iris disorderOpen Targets
0.24Weak
complex neurodevelopmental disorderOpen Targets
0.18Weak
Abnormality of the cardiovascular systemOpen Targets
0.18Weak
response to stimulusOpen Targets
0.08Suggestive
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
cataractOpen Targets
0.07Suggestive
trauma complicationOpen Targets
0.07Suggestive
exostosisOpen Targets
0.06Suggestive
ovarian cancerOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
gliomaOpen Targets
0.05Suggestive
skin cancerOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC12A8Shared pathway100%SLC12A7Shared pathway50%KCNU1Shared pathway50%KCNQ5Shared pathway50%SLC12A4Shared pathway43%KCNH8Shared pathway40%
Tissue Expression6 tissues
Lung
100%
Ovary
78%
Liver
51%
Bone Marrow
51%
Brain
27%
Heart
26%
Gene Interaction Network
Click a node to explore
SLC12A9SLC12A8SLC12A7KCNU1KCNQ5SLC12A4KCNH8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BXP2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.65–1.01]
RankingsWhere SLC12A9 stands among ~20K protein-coding genes
  • #12,232of 20,598
    Most Researched29
  • #9,778of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedSLC12A9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
An SLC12A9-dependent ion transport mechanism maintains lysosomal osmolarity.
PMID: 39476838
Dev Cell · 2025
1.00
2
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
PMID: 38334070
Genet Med · 2024
0.90
3
Upregulation of SLC12A3 and SLC12A9 Mediated by the HCP5/miR-140-5p Axis Confers Aggressiveness and Unfavorable Prognosis in Uveal Melanoma.
PMID: 36925204
Lab Invest · 2023
0.80
4
Clinical value of SLC12A9 for diagnosis and prognosis in colorectal cancer.
PMID: 38157260
Aging (Albany NY) · 2023
0.70
5
Evidence of a genetic background predisposing to complex regional pain syndrome type 1.
PMID: 37816627
J Med Genet · 2024
0.60