Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6542
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 7 member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC7A2
Synonyms (NCBI Gene) Gene synonyms aliases
ATRC2, CAT-2A, CAT-2B, CAT2, HCAT2, SLC7A2A, SLC7A2B
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p22
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000064 Function L-ornithine transmembrane transporter activity IBA 21873635
GO:0005886 Component Plasma membrane IBA 21873635
GO:0005886 Component Plasma membrane IDA
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane TAS 8954799
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601872 11060 ENSG00000003989
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 26031901 ClinVar
Cerebral amyloid angiopathy Cerebral amyloid angiopathy GWAS
Conduct Disorder Conduct Disorder GWAS
Associations from Text Mining
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