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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
Corresponding disease
DIAR6 congenital diarrhea 6
MCIL meconium ileus isolated
Location 12p12.3      Physical location : 14.765.569 - 14.849.519
Synonym name
  • STA receptor
  • guanylyl cyclase C
  • heat-stable enterotoxin receptor; intestinal guanylate cyclase
    • Synonym symbol(s) STAR, DIAR6, GUC2C, MECIL, MUCIL, GC-C
    EC.number 4.6.1.2
    DNA
    TYPE functioning gene
    STRUCTURE 83.95 kb     27 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 3850 130 1073 - 1996 8661067
  • glycosylated forms that are resident in the endoplasmic reticulum
    • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly Homo sapiens
     intestinesmall intestine  highly Homo sapiens
    Endocrinepancreas   moderately Homo sapiens
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveepithelial cell Homo sapiens
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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