Gene Gene information from NCBI Gene database.
Entrez ID 9057
Gene name Solute carrier family 7 member 6
Gene symbol SLC7A6
Synonyms (NCBI Gene)
LAT-2LAT3y+LAT-2
Chromosome 16
Chromosome location 16q22.1
miRNA miRNA information provided by mirtarbase database.
832
miRTarBase ID miRNA Experiments Reference
MIRT001761 hsa-miR-30a-3p Luciferase reporter assayqRT-PCRWestern blot 16239240
MIRT004987 hsa-miR-125b-5p Microarray 17891175
MIRT020026 hsa-miR-375 Microarray 20215506
MIRT027832 hsa-miR-98-5p Microarray 19088304
MIRT001761 hsa-miR-30a-3p qRT-PCR 16239240
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0003333 Process Amino acid transmembrane transport IBA
GO:0003333 Process Amino acid transmembrane transport TAS 9829974
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 9829974
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605641 11064 ENSG00000103064
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92536
Protein name Y+L amino acid transporter 2 (Cationic amino acid transporter, y+ system) (Solute carrier family 7 member 6) (y(+)L-type amino acid transporter 2) (Y+LAT2) (y+LAT-2)
Protein function Heterodimer with SLC3A2, that functions as an antiporter which operates as an efflux route by exporting cationic amino acids such as L-arginine from inside the cells in exchange with neutral amino acids like L-leucine, L-glutamine and isoleucine
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13520 AA_permease_2 45 468 Amino acid permease Family
Tissue specificity TISSUE SPECIFICITY: Expressed in normal fibroblasts and those from LPI patients (PubMed:11078698). Also expressed in HUVECs, monocytes, RPE cells, and various carcinoma cell lines (PubMed:11742806, PubMed:14603368, PubMed:15280038, PubMed:17197568, PubMed
Sequence
Sequence length 515
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Basigin interactions
Amino acid transport across the plasma membrane
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
OTOSCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SLC7A6-related disorder Likely benign; Benign ClinVar
★★☆☆☆
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 24168110 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37205704 Associate
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 24168110
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 32794418 Inhibit
★☆☆☆☆
Found in Text Mining only
Lymphoma Lymphoma BEFREE 11074541
★☆☆☆☆
Found in Text Mining only
Lysinuric Protein Intolerance Lysinuric Protein Intolerance BEFREE 11078698, 15756301, 21110863, 31705628
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 22007000, 24052624, 31345230
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 24052624
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 22007000, 24052624, 31345230
★☆☆☆☆
Found in Text Mining only
Pulmonary Alveolar Proteinosis Alveolar proteinosis BEFREE 21110863
★☆☆☆☆
Found in Text Mining only