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FLASH GENE
Symbol GUCY2C contributors: mct - updated : 09-05-2015
HGNC name guanylate cyclase 2C (heat stable enterotoxin receptor)
HGNC id 4688
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N-terminal extracellular ligand-binding domain
  • one transmembrane segment (1TM)
  • an intracellular tail with a protein-kinase-like and a catalytic domains
  • a kinase homology domain (KHD)
  • a linker of approximately 70 AAs, followed by the C-terminal guanylyl cyclase domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY tumor suppressor , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • predominantly localized at the apical brush border membrane of the intestinal epithelium
  • basic FUNCTION
  • transmembrane receptor, heat stable enterotoxin receptor, regulating chloride secretion
  • intestinal receptor for the paracrine hormones guanylin and uroguanylin that converts guanosine-5prime-triphosphate to cyclic guanosine monophosphate (cGMP)
  • tumor suppressor that controls proliferation and metabolism of intestinal epithelial cells by inactivating AKT signaling
  • its signaling plays a protective role in the integrity of the intestinal mucosal barrier by regulating MLCK (myosin light chain kinase) activation and TJ (tight junction) disassembly
  • role for GUCY2C signaling in facilitating mucosal wounding and inflammation
  • regulator of ion and fluid balance in the intestine
  • is a multidomain, membrane-associated receptor guanylyl cyclase
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • important behavioral and physiological functions for the GUCY2C/PRKG1 signaling pathway within the brain
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • first identified receptor client of the lectin chaperone vesicular integral membrane protein, LMAN2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DIAR6 , MCIL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    increased tumor multiplicity and growth in colons and small intestines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • likely candidate modifier of the meconium ileus phenotype in Cystic fibrosis
  • Marker
    Therapy target
    ANIMAL & CELL MODELS