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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Myoepithelial tumor Uncertain significance rs771008189 RCV002463906
SLC7A2-related disorder Benign; Likely benign rs139462829, rs75080313, rs13259978, rs13259948, rs1134975, rs62622371, rs199757672, rs114541623, rs151179886, rs145975234, rs737039 RCV003921904
RCV003974476
RCV003974546
RCV003974662
RCV003982395
RCV003979357
RCV003979486
RCV003931736
RCV003939460
RCV003924407
RCV003982214
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 28501704
Alzheimer Disease Associate 40430038
Carcinoma Hepatocellular Associate 34108444
Carcinoma Non Small Cell Lung Inhibit 36639771
Carcinoma Pancreatic Ductal Associate 36880835
Colitis Ulcerative Associate 27104830
Colonic Polyps Associate 28501704
Colorectal Neoplasms Associate 28501704
Endometrial Neoplasms Associate 39326337
Intervertebral Disc Degeneration Associate 36193061