Gene Gene information from NCBI Gene database.
Entrez ID 133482
Gene name Solute carrier organic anion transporter family member 6A1
Gene symbol SLCO6A1
Synonyms (NCBI Gene)
CT48GSTOATP-IOATP6A1OATPY
Chromosome 5
Chromosome location 5q21.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0005886 Component Plasma membrane IEA
GO:0015347 Function Sodium-independent organic anion transmembrane transporter activity IBA
GO:0016020 Component Membrane IEA
GO:0016323 Component Basolateral plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613365 23613 ENSG00000205359
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86UG4
Protein name Solute carrier organic anion transporter family member 6A1 (Cancer/testis antigen 48) (CT48) (Gonad-specific transporter) (GST) (Organic anion-transporting polypeptide 6A1) (Organic anion-transporting polypeptide I) (OATP-I) (Solute carrier family 21 memb
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03137 OATP 107 665 Organic Anion Transporter Polypeptide (OATP) family Family
PF07648 Kazal_2 502 549 Kazal-type serine protease inhibitor domain Domain
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in testis. Weakly expressed in spleen, brain, fetal brain and placenta. Detected in lung tumors. {ECO:0000269|PubMed:12677006, ECO:0000269|PubMed:15546177}.
Sequence
Sequence length 719
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT 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
Acute leukemia Leukemia BEFREE 10607732, 15862746, 17339179, 23725116, 24716937
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10607732, 10673738, 11186134, 14607752, 22215096, 24276031, 25102096, 27058755, 7910222, 7923148
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 19288261, 8075575
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 20157766, 21875282
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11809532, 11854392, 14758730, 16979613, 20453817, 9973204
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 15526353, 17064856, 9973204
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 20377486
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 11050472, 14607333
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11297599, 11809532, 27914986
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 22161138
★☆☆☆☆
Found in Text Mining only