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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC17A2
solute carrier family 17 member 2
Chromosome 6 · 6p22.2
NCBI Gene: 10246Ensembl: ENSG00000112337.12HGNC: HGNC:10930UniProt: O00624
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
apical plasma membraneurate transmembrane transporter activitytransmembrane transporter activityphosphate-containing compound metabolic processFuchs endothelial corneal dystrophyHeadacheX-linked endothelial corneal dystrophygranular corneal dystrophy type I
✦AI Summary

SLC17A2 (solute carrier family 17 member 2) functions as a membrane potential-dependent organic anion transporter that mediates chloride-dependent transport of urate and can actively transport inorganic phosphate into cells via sodium cotransport. The gene has been identified as a novel susceptibility locus for gout through pathway analysis, where genetic variants influence serum urate concentrations and gout risk 1. SLC17A2 demonstrates significant clinical relevance across multiple diseases. In hepatocellular carcinoma, low expression correlates with poor prognosis and is associated with immune cell infiltration patterns 2. The gene shows sex-specific variant patterns in non-alcoholic steatohepatitis, with polymorphisms identified specifically in female samples 3. Additionally, SLC17A2 variants have been associated with lean NAFLD susceptibility 4 and stroke risk in genome-wide association studies 5. In cardiovascular contexts, genetic variants in SLC17A2 show associations with carotid intima-media thickness in Mexican Americans with rheumatoid arthritis 6. The gene also exhibits differential methylation patterns in prostate cancer, being hypomethylated in aggressive versus indolent tumors 7. These findings establish SLC17A2 as a multi-functional transporter with broad clinical implications across metabolic, hepatic, cardiovascular, and oncological diseases.

Sources cited
1
SLC17A2 identified as novel gout-associated gene through pathway analysis of transmembrane transporter activity pathways
PMID: 29497127
2
Low SLC17A2 expression in hepatocellular carcinoma correlates with prognosis and immune cell infiltration
PMID: 35081886
3
Sex-specific SLC17A2 polymorphisms identified in female NASH samples
PMID: 38540416
4
SLC17A2 variants associated with lean NAFLD susceptibility
PMID: 37235137
5
SLC17A2 identified in gene-based analysis for stroke association in Indian population
PMID: 34031191
6
SLC17A2 variants associated with carotid intima-media thickness in Mexican Americans with rheumatoid arthritis
PMID: 29482039
7
SLC17A2 hypomethylated in aggressive versus indolent prostate tumors
PMID: 33450964
Disease Associationsⓘ20
Fuchs endothelial corneal dystrophyOpen Targets
0.07Suggestive
HeadacheOpen Targets
0.06Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.06Suggestive
granular corneal dystrophy type IOpen Targets
0.05Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.05Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.05Suggestive
lattice corneal dystrophy type IOpen Targets
0.05Suggestive
Cataract-microcornea syndromeOpen Targets
0.05Suggestive
posterior polymorphous corneal dystrophyOpen Targets
0.05Suggestive
Lisch epithelial corneal dystrophyOpen Targets
0.05Suggestive
X-linked corneal dermoidOpen Targets
0.05Suggestive
Central cloudy dystrophy of FrancoisOpen Targets
0.05Suggestive
central cloudy dystrophy of FrançoisOpen Targets
0.05Suggestive
Schnyder corneal dystrophyOpen Targets
0.05Suggestive
Peters anomalyOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
Persistent pupillary membraneOpen Targets
0.05Suggestive
macular corneal dystrophyOpen Targets
0.05Suggestive
corneal endothelial dystrophyOpen Targets
0.05Suggestive
early-onset non-syndromic cataractOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SERPINA7Protein interaction78%SLC34A1Protein interaction75%SLC17A4Shared pathway67%ASIC4Shared pathway50%SLC20A1Shared pathway38%ASIC3Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Lung
0%
Brain
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Gene Interaction Network
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SLC17A2SERPINA7SLC34A1SLC17A4ASIC4SLC20A1ASIC3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O00624
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.53–0.94]
RankingsWhere SLC17A2 stands among ~20K protein-coding genes
  • #16,898of 20,598
    Most Researched11
  • #8,794of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedSLC17A2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic variants in HFE are associated with non-alcoholic fatty liver disease in lean individuals.
PMID: 37235137
JHEP Rep · 2023
1.00
2
SLC17A2 Expression Correlates with Prognosis and Immune Infiltrates in Hepatocellular Carcinoma.
PMID: 35081886
Comb Chem High Throughput Screen · 2022
0.90
3
Whole-Exome Sequencing (WES) Reveals Novel Sex-Specific Gene Variants in Non-Alcoholic Steatohepatitis (MASH).
PMID: 38540416
Genes (Basel) · 2024
0.80
4
Association of SUMOylation Pathway Genes With Stroke in a Genome-Wide Association Study in India.
PMID: 34031191
Neurology · 2021
0.70
5
The regulation and function of phosphate in the human body.
PMID: 15630224
Biofactors · 2004
0.60