Gene Gene information from NCBI Gene database.
Entrez ID 6542
Gene name Solute carrier family 7 member 2
Gene symbol SLC7A2
Synonyms (NCBI Gene)
ATRC2CAT-2ACAT-2BCAT2HCAT2SLC7A2ASLC7A2B
Chromosome 8
Chromosome location 8p22
Summary The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine
miRNA miRNA information provided by mirtarbase database.
1813
miRTarBase ID miRNA Experiments Reference
MIRT021331 hsa-miR-9-5p Microarray 17612493
MIRT026256 hsa-miR-192-5p Microarray 19074876
MIRT027260 hsa-miR-101-3p Sequencing 20371350
MIRT030407 hsa-miR-24-3p Microarray 19748357
MIRT040049 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000064 Function L-ornithine transmembrane transporter activity IBA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 8954799
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601872 11060 ENSG00000003989
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P52569
Protein name Cationic amino acid transporter 2 (CAT-2) (CAT2) (Low affinity cationic amino acid transporter 2) (Solute carrier family 7 member 2)
Protein function Functions as a permease involved in the transport of the cationic amino acids (L-arginine, L-lysine, L-ornithine and L-homoarginine); the affinity for its substrates differs between isoforms created by alternative splicing (PubMed:28684763, PubM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13520 AA_permease_2 34 449 Amino acid permease Family
PF13906 AA_permease_C 556 606 C-terminus of AA_permease Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in the skeletal muscle, placenta and ovary. Expressed at intermediate levels in the liver and pancreas and at low levels in the kidney and heart. {ECO:0000269|PubMed:8954799}.
Sequence
Sequence length 658
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amino acid transport across the plasma membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER 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
Alzheimer Disease Alzheimer disease Pubtator 40430038 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma GWASCAT_DG 26031901
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31735511
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34108444 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 36880835 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract BEFREE 9932285
★☆☆☆☆
Found in Text Mining only
Chronic colitis Colitis BEFREE 30202097
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 27104830 Associate
★☆☆☆☆
Found in Text Mining only
Colonic Polyps Colonic polyps Pubtator 28501704 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28501704
★☆☆☆☆
Found in Text Mining only