Gene Gene information from NCBI Gene database.
Entrez ID 283537
Gene name Solute carrier family 46 member 3
Gene symbol SLC46A3
Synonyms (NCBI Gene)
FKSG16
Chromosome 13
Chromosome location 13q12.3
Summary The protein encoded by this gene is a member of a transmembrane protein family that transports small molecules across membranes. The encoded protein has been found in lysosomal membranes, where it can transport catabolites from the lysosomes to the cytopl
miRNA miRNA information provided by mirtarbase database.
185
miRTarBase ID miRNA Experiments Reference
MIRT016755 hsa-miR-335-5p Microarray 18185580
MIRT022155 hsa-miR-124-3p Microarray 18668037
MIRT024422 hsa-miR-215-5p Microarray 19074876
MIRT026114 hsa-miR-192-5p Microarray 19074876
MIRT500109 hsa-miR-99a-3p PAR-CLIP 24398324
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005375 Function Copper ion transmembrane transporter activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IBA
GO:0005765 Component Lysosomal membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616764 27501 ENSG00000139508
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z3Q1
Protein name Lysosomal proton-coupled steroid conjugate and bile acid symporter SLC46A3 (Solute carrier family 46 member 3)
Protein function Lysosomal proton-coupled steroid conjugate and bile acid transporter. Preferentially recognizes lipophilic steroid conjugates or bile acis as endogenous substrates and seems to mediate escape from lysosomes to the cytoplasm (PubMed:36741448). Mo
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07690 MFS_1 7 400 Major Facilitator Superfamily Family
Sequence
Sequence length 461
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
CIRRHOSIS OF LIVER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 39199284
★☆☆☆☆
Found in Text Mining only