Gene Gene information from NCBI Gene database.
Entrez ID 9356
Gene name Solute carrier family 22 member 6
Gene symbol SLC22A6
Synonyms (NCBI Gene)
HOAT1OAT1PAHTROAT1
Chromosome 11
Chromosome location 11q12.3
Summary The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four
miRNA miRNA information provided by mirtarbase database.
66
miRTarBase ID miRNA Experiments Reference
MIRT646399 hsa-miR-296-3p HITS-CLIP 23824327
MIRT646398 hsa-miR-1470 HITS-CLIP 23824327
MIRT646397 hsa-miR-4667-3p HITS-CLIP 23824327
MIRT646396 hsa-miR-6832-3p HITS-CLIP 23824327
MIRT646395 hsa-miR-6734-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HNF4A Unknown 17344191
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
GO ID Ontology Definition Evidence Reference
GO:0005452 Function Solute:inorganic anion antiporter activity IDA 15037815
GO:0005515 Function Protein binding IPI 16189514, 19060904
GO:0005886 Component Plasma membrane IDA 14749323
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607582 10970 ENSG00000197901
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q4U2R8
Protein name Solute carrier family 22 member 6 (Organic anion transporter 1) (hOAT1) (PAH transporter) (hPAHT) (Renal organic anion transporter 1) (hROAT1)
Protein function Secondary active transporter that functions as a Na(+)-independent organic anion (OA)/dicarboxylate antiporter where the uptake of one molecule of OA into the cell is coupled with an efflux of one molecule of intracellular dicarboxylate such as
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00083 Sugar_tr 101 518 Sugar (and other) transporter Family
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in kidney (PubMed:10049739, PubMed:10462545, PubMed:10964714, PubMed:9887087, PubMed:9950961). Expressed at lower level in liver, skeletal muscle, brain and placenta (PubMed:10049739, PubMed:10462545, PubMed:9887087,
Sequence
Sequence length 563
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Folate transport and metabolism   Organic anion transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CALCINOSIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Renal Cell Renal cell carcinoma Pubtator 32461965 Inhibit
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease BEFREE 29795395, 31525064
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 29710508
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 31125610
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathies Diabetic neuropathy Pubtator 23949796 Inhibit
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathy Diabetic Nephropathy BEFREE 23949796
★☆☆☆☆
Found in Text Mining only
Gout Gout Pubtator 35406626 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hypertensive disease Hypertension BEFREE 21164499
★☆☆☆☆
Found in Text Mining only
Hyperuricemia Hyperuricemia BEFREE 28258276, 28623927, 29233733, 29379442, 29490297, 31009635
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney Disease BEFREE 14984259
★☆☆☆☆
Found in Text Mining only