Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
    Physical map
    FLJ33810 12p13.2 hypothetical protein FLJ33810 GRIN2B 12p12 glutamate receptor, ionotropic, N-methyl D-aspartate 2B ATF7IP 12p13.31 activating transcription factor 7 interacting protein FLJ22662 12p13.2 hypothetical protein FLJ22662 GUCY2C 12p12 guanylate cyclase 2C (heat stable enterotoxin receptor) HIST4H4 12p13.1 histone 4, H4 H2AFJ 12p12 H2A histone family, member J WBP11 12p13.1 WW domain binding protein 11 MGC47869 12p13.1 hypothetical protein MGC47869 LOC387843 12 hypothetical gene supported by AK092637 DO 12q13.2-q13.3 Dombrock blood group MGP 12p13-p12 matrix Gla protein FLJ32115 12p13.1 hypothetical protein FLJ32115 ARHGDIB 12p12.3 Rho GDP dissociation inhibitor (GDI) beta PDE6H 12p13 phosphodiesterase 6H, cGMP-specific, cone, gamma RERG 12p13.31 RAS-like, estrogen-regulated, growth-inhibitor LOC387844 12 hypothetical gene supported by AK093218 PTPRO 12p13-p12 protein tyrosine phosphatase, receptor type, O EPS8 12p12 epidermal growth factor receptor pathway substrate 8 MRPS7P2 12p13.1 mitochondrial ribosomal protein S7 pseudogene 2
    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