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FLASH GENE
Symbol SLC7A2 contributors: mct/npt/pgu - updated : 31-10-2013
HGNC name solute carrier family 7 (cationic amino acid transporter, y+ system), member 2
HGNC id 11060
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • twelve transmembrane segments
  • cytoplasmic N and C termini
  • HOMOLOGY
    interspecies homolog to murine Slc7a2
    Homologene
    FAMILY
  • amino acid-polyamine-organocation (APC) superfamily
  • cationic amino acid transporter (CAT) family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • SLC7A1 mediated L-arginine influx, is essential for both inducible nitric oxide synthase and arginase enzyme activities, which in turn modulate proliferation and differentiation of human epidermal skin cells
  • via arginine transport, plays a critical regulatory role in classical or alternative activation of macrophages
  • by controlling NOS2 and arginase activity, functions as a potent regulator of immunity
  • is a regulator of fibrotic responses in the lung
  • is an important regulator of the immune response during H. pylori infection
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with FRAP1 (FRAP1 activity is associated with the repression of SLC7A2 expression at mRNA and protein level)
  • DDAH1 and L-arginine are substrates of human SLC7A2, SLC22A2, SLC47A1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism SNP
  • a single-nucleotide variation in the first intron of the SLC7A2 gene (IVS1-1713 A > G) associated to infantile encephalopathy with severe infantile anorexia
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Cat2(-/-) mice are significantly more susceptible to the Th1-inducing pathogen Toxoplasma gondii