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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GUCY2C Gene

protein-coding   GIFtS: 65
GCID: GC12M014765

Guanylate Cyclase 2C (Heat Stable Enterotoxin Receptor)


(Previous symbol: GUC2C)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Guanylate Cyclase 2C (Heat Stable Enterotoxin Receptor)1 2     STA Receptor2 3
GUC2C1 2 3 5     EC 4.6.1.23 8
Guanylyl Cyclase C2 3     DIAR62
Intestinal Guanylate Cyclase2 3     MECIL2
GC-C2 3     MUCIL2
STAR2 3     Heat-Stable Enterotoxin Receptor2
hSTAR2 3     EC 4.6.18

External Ids:    HGNC: 46881   Entrez Gene: 29842   Ensembl: ENSG000000700197   OMIM: 6013305   UniProtKB: P250923   
ORGUL members:         
NONCODE14:n341839      

Export aliases for GUCY2C gene to outside databases

Previous GC identifers: GC12M014505 GC12M014910 GC12M014665 GC12M014656 GC12M014534


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for GUCY2C Gene: 
GUCY2C (guanylate cyclase 2C (heat stable enterotoxin receptor)) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with GUCY2C include ileus, and ovarian mucinous neoplasm, and among its related super-pathways are Cellular Effects of Sildenafil and CREB Pathway. GO annotations related to this gene include guanylate cyclase activity and GTP binding. An important paralog of this gene is ADCY5.

UniProtKB/Swiss-Prot: GUC2C_HUMAN, P25092
Function: Receptor for the E.coli heat-stable enterotoxin (E.coli enterotoxin markedly stimulates the accumulation
of cGMP in mammalian cells expressing GC-C). Also activated by the endogenous peptides guanylin and uroguanylin

Gene Wiki entry for GUCY2C (Guanylate cyclase 2C) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_009714.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GUCY2C gene promoter:
         ER-alpha   Sox5   STAT5A   LCR-F1   Arnt   PPAR-alpha   AREB6   RORalpha1   MEF-2A   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGUCY2C promoter sequence
   Search SABiosciences Chromatin IP Primers for GUCY2C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GUCY2C


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p12   Ensembl cytogenetic band:  12p12.3   HGNC cytogenetic band: 12p12

GUCY2C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GUCY2C gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M014765:  view genomic region     (about GC identifiers)

Start:
14,765,566 bp from pter      End:
14,849,519 bp from pter
Size:
83,954 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GUC2C_HUMAN, P25092 (See protein sequence)
Recommended Name: Heat-stable enterotoxin receptor precursor  
Size: 1073 amino acids; 123403 Da
Subunit: Homotrimer. Interacts via its C-terminal region with PDZK2. Interacts with the lectin chaperone VIP36
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
Single-pass type I membrane protein. Note=The 145 kDa plasma membrane form of GC-C contains sialic acid and
galactose residues, while a differencially glycosylated 130 Kda form is a high mannose form that is resident in
the endoplasmic reticulum and may serve as the precursor for the cell surface form
Secondary accessions: B2RMY6

Explore the universe of human proteins at neXtProt for GUCY2C: NX_P25092

Explore proteomics data for GUCY2C at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylation at Asn-75 and/or Asn-79 is required for interaction with VIP36 while glycosylation at Asn-345 and
    Asn-402 modulates ligand-mediated GC-C activation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P25092

  • 4/15 DME Specific Peptides for GUCY2C (P25092) (see all 15)
     ASRMEST  LLFGHML  FSDIVGFT  RGETYLKG 

    GUCY2C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GUCY2C Protein Expression
    REFSEQ proteins: NP_004954.2  
    ENSEMBL proteins: 
     ENSP00000261170  

    Human Recombinant Protein Products for GUCY2C: 
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    Cloud-Clone Corp. Proteins for GUCY2C 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--

    GUCY2C for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: guanylate cyclase 2C (heat stable enterotoxin receptor) 
    Natriuretic peptide receptor family
    Receptor Guanylate Cyclase (RGC) family

    5/6 InterPro protein domains (see all 6):
     IPR011009 Kinase-like_dom
     IPR000719 Prot_kinase_cat_dom
     IPR001054 A/G_cyclase
     IPR018297 A/G_cyclase_CS
     IPR001245 Ser-Thr/Tyr_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry P25092

    ProtoNet protein and cluster: P25092

    1 Blocks protein domain: IPB001828 Extracellular ligand-binding receptor

    UniProtKB/Swiss-Prot: GUC2C_HUMAN, P25092
    Domain: The protein kinase domain is predicted to be catalytically inactive
    Similarity: Belongs to the adenylyl cyclase class-4/guanylyl cyclase family
    Similarity: Contains 1 guanylate cyclase domain
    Similarity: Contains 1 protein kinase domain


    GUCY2C for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GUC2C_HUMAN, P25092
    Function: Receptor for the E.coli heat-stable enterotoxin (E.coli enterotoxin markedly stimulates the accumulation
    of cGMP in mammalian cells expressing GC-C). Also activated by the endogenous peptides guanylin and uroguanylin
    Catalytic activity: GTP = 3',5'-cyclic GMP + diphosphate

         Genatlas biochemistry entry for GUCY2C:
    guanylate cyclase C,transmembrane receptor primarily expressed in the intestine

         Enzyme Numbers (IUBMB): EC 4.6.1.21 2 EC 4.6.12

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004383guanylate cyclase activity IEA--
    GO:0004672protein kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI11950846
    GO:0005524ATP binding IEA--
         
    GUCY2C for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GUCY2C:
     Decreased circadian period len 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gucy2c):
     adipose tissue  behavior/neurological  cardiovascular system  digestive/alimentary  growth/size 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 

    GUCY2C for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GUCY2C: Gucy2ctm1Gian Gucy2ctm1Gar

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GUCY2C 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GUCY2C 
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    SwitchGear 3'UTR luciferase reporter plasmidGUCY2C 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GUCY2C About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Sweet Taste Signaling
    Cellular Effects of Sildenafil0.46
    Sperm Motility0.37
    2CREB Pathway
    Intracellular Calcium Signaling0.50
    3Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48
    4Purine metabolism
    Purine metabolism0.38
    5Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GUCY2C (see all 7)
        Cellular Effects of Sildenafil
    Sertoli-Sertoli Cell Junction Dynamics
    eNOS Signaling
    Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods


    1         Kegg Pathway  (Kegg details for GUCY2C):
        Purine metabolism


    GUCY2C for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GUCY2C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/74 Interacting proteins for GUCY2C (P250922, 3 ENSP000002611704) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDZD3Q86UT52, 3, ENSP000003271074MINT-1773222 MINT-1777648 MINT-1777755 MINT-1777668 I2D: score=1 STRING: ENSP00000327107
    PDZK1Q5T2W12, 3, ENSP000003421434MINT-1777734 I2D: score=1 STRING: ENSP00000342143
    GUCA2AQ027473, ENSP000003494934I2D: score=1 STRING: ENSP00000349493
    SRCP129313, ENSP000003509414I2D: score=1 STRING: ENSP00000350941
    NME1-NME2ENSP000003768864STRING: ENSP00000376886
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006182cGMP biosynthetic process ----
    GO:0006468protein phosphorylation ----
    GO:0007168receptor guanylyl cyclase signaling pathway TAS1680854
    GO:0009190cyclic nucleotide biosynthetic process ----
    GO:0009636response to toxic substance IEA--

    GUCY2C for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GUCY2C for compounds           About GeneDecksing

    EMD Millipore small molecules for GUCY2C:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GUCY2C (GUC2C)

    5 HMDB Compounds for GUCY2C    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic GMP3',5'-cyclic GMP (see all 13)7665-99-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 DrugBank Compound for GUCY2C    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Linaclotide -- 851199-59-2targetagonist23090647

    3 IUPHAR Ligands for GUCY2C (guanylate cyclase 2C (heat stable enterotoxin receptor))    About this table 
    LigandTypeActionAffinityPubmed IDs
    linaclotide
    AgonistAgonist17694454
    E. coli heat-stable enterotoxin (STa)
    AgonistAgonist--
    [125I]Sta
    NoneNone--

    10 Novoseek inferred chemical compound relationships for GUCY2C gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    enterotoxin 91.3 47 1718270 (2), 11931628 (2), 1701694 (2), 8797807 (1) (see all 41)
    cgmp 71.4 12 15937149 (2), 9516400 (2), 1680854 (1), 9188791 (1) (see all 9)
    2 chloroadenosine 44.9 3 8995360 (2)
    guanylate 38.1 3 1718270 (1), 8096619 (1)
    paraffin 22.6 2 12763211 (1), 16049286 (1)
    chloride 14.7 1 10224234 (1)
    atp 6.94 1 11478887 (1)
    magnesium 0 1 15937149 (1)
    calcium 0 5 15937149 (5)
    tyrosine 0 3 11120586 (1)

    Search CenterWatch for drugs/clinical trials and news about GUCY2C / GUC2C

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for GUCY2C gene: 
    NM_004963.3  

    Unigene Cluster for GUCY2C:

    Guanylate cyclase 2C (heat stable enterotoxin receptor)
    Hs.524278  [show with all ESTs]
    Unigene Representative Sequence: NM_004963
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261170(uc001rcd.3) ENST00000535803(uc009zhz.2)
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    Additional mRNA sequence: 

    AK310034.1 BC136544.1 BC136545.1 M73489.1 S57551.1 

    3 DOTS entries:

    DT.409598  DT.95266495  DT.97781094 

    24/29 AceView cDNA sequences (see all 29):

    AW376842 M73489 AI832359 BX480883 AI357407 AW848739 AI446632 BM746765 
    NM_004963 AI732333 BM765195 S57551 AW578382 BX480841 AA514592 AW779607 
    AA129983 AW362865 BX483321 BF756855 BG982246 AA524004 AW859797 AI262340 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GUCY2C expression in normal human tissues (normalized intensities)      GUCY2C embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATCAGATGT
    GUCY2C Expression
    About this image


    GUCY2C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Amygdala
             Substantia Nigra   
     
     Colon (Gastrointestinal Tract)
             colonic mucosal (ibs)   
     
     Intestine (Gastrointestinal Tract)
             small intestine   

    See GUCY2C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GUCY2C

    SOURCE GeneReport for Unigene cluster: Hs.524278
        SABiosciences Custom PCR Arrays for GUCY2C
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GUCY2C

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GUCY2C gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gucy2c1 , 5 guanylate cyclase 2c1, 5 81.18(n)1
    82.15(a)1
      6 (66.67 cM)5
    149171  NM_001127318.11  NP_001120790.11 
     1366972855 
    chicken
    (Gallus gallus)
    Aves GUCY2C1 guanylate cyclase 2C (heat stable enterotoxin receptor) 69.95(n)
    67.95(a)
      417968  XM_416207.3  XP_416207.2 
    lizard
    (Anolis carolinensis)
    Reptilia GUCY2C6
    Guanylate cyclase
    73(a)
    1 ↔ 1
    GL343714.1(336-58101)
    African clawed frog
    (Xenopus laevis)
    Amphibia gucy2c-A2 guanylate cyclase 2C (heat stable enterotoxin receptor) 77.7(n)    D49837.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5720521 heat-stable enterotoxin receptor-like 60.33(n)
    58.18(a)
      572052  XM_695711.5  XP_700803.5 
    worm
    (Caenorhabditis elegans)
    Secernentea gcy-43 guanylate cyclase 38(a)
    (best of 8)
      II(10304047-10308764)   --


    ENSEMBL Gene Tree for GUCY2C (if available)
    TreeFam Gene Tree for GUCY2C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GUCY2C gene
    ADCY52  ADCY22  GUCY2D2  NPR12  GUCY2F2  ADCY82  GUCY1A22  ADCY72  
    ADCY92  GUCY1B32  ADCY62  ADCY12  GUCY1A32  ADCY42  NPR22  ADCY32  
    3 SIMAP similar genes for GUCY2C using alignment to 2 protein entries:     GUC2C_HUMAN (see all proteins):
    NPR1    ADCY4    NPR2

    GUCY2C for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1757 SNPs in GUCY2C are shown (see all 1757)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0681744
    Meconium ileus (MECIL)4--see VAR_0681742 D G mis40--------
    VAR_0677244
    Diarrhea 6 (DIAR6)4--see VAR_0677242 S I mis40--------
    VAR_0422224
    A metastatic melanoma sample4--see VAR_0422222 G R mis40--------
    rs346296081,2
    C--14561564(+) GTCTC-/A/AA  
            
    AAAAA
    1 -- int11NA 2
    rs1877623691,2
    --14765194(+) GGTGGA/CGCAGT 1 -- int10--------
    rs1423973801,2
    --14765211(+) TGAAGA/TGAGTA 1 -- int10--------
    rs1513326261,2
    C--14765255(+) AGCCTG/TGAGAC 1 -- int10--------
    rs1166949011,2
    F--14765266(+) ATGGAT/ATACTT 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1911236601,2
    --14765316(+) CTGGGC/TCCCAT 1 -- int10--------
    rs1406008161,2
    --14765319(+) GGTCCC/TATACT 1 -- int10--------

    HapMap Linkage Disequilibrium report for GUCY2C (14765566 - 14849519 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GUCY2C:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv528779CNV Loss19592680
    nsv898817CNV Gain21882294


    Human Gene Mutation Database (HGMD): GUCY2C
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GUCY2C
    DNA2.0 Custom Variant and Variant Library Synthesis for GUCY2C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601330    OMIM disorders: --

    UniProtKB/Swiss-Prot: GUC2C_HUMAN, P25092
  • Diarrhea 6 (DIAR6) [MIM:614616]: A relatively mild, early-onset chronic diarrhea that may be associated
    with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Meconium ileus (MECIL) [MIM:614665]: A condition characterized by a intestinal obstruction due to
    inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a
    failure to pass meconium. Meconium ileus is a known clinical manifestation of cystic fibrosis. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 20/23 diseases for GUCY2C (see all 23):    About MalaCards
    ileus    ovarian mucinous neoplasm    priapism    intestinal obstruction
    cone-rod dystrophy    leber congenital amaurosis    diarrhea    irritable bowel syndrome
    constipation    colon cancer    colorectal cancer    cystic fibrosis
    pertussis    inflammatory bowel disease    adenoma    gastric cancer
    adenocarcinoma    esophagitis    retinitis    tuberculosis

    7 diseases from the University of Copenhagen DISEASES database for GUCY2C:
    Hypertension     cone-rod dystrophy     Leber congenital amaurosis     Constipation
    Irritable bowel syndrome     Diarrhea     Heart disease

    GUCY2C for disorders           About GeneDecksing

    10/15 Novoseek inferred disease relationships for GUCY2C gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colorectal tumors 74.4 4 8962140 (1), 15937149 (1), 16149873 (1), 17155897 (1)
    colorectal cancer 66.8 28 9514425 (3), 10206298 (2), 10711442 (2), 19800103 (2) (see all 20)
    colon carcinoma 58.7 9 11438734 (2), 7654763 (2), 8962140 (1), 15937149 (1) (see all 6)
    colon cancer 52.5 8 15937149 (2), 9514425 (1), 15264876 (1), 16731751 (1) (see all 7)
    colorectal carcinoma 47.1 6 19800103 (4), 15754294 (1), 18615494 (1)
    metastasis 41.8 5 19537845 (1), 12163327 (1), 12763211 (1), 19800103 (1) (see all 5)
    metaplasia 39.9 2 15754294 (1), 12831335 (1)
    histopathology 38.3 3 9514425 (2), 20498026 (1)
    neoplastic transformation 33.5 1 17687268 (1)
    adenocarcinoma 26 5 15754294 (2), 11884500 (1), 12163327 (1), 12831335 (1)


    Export disorders for GUCY2C gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GUCY2C gene, integrated from 9 sources (see all 143):
    (articles sorted by number of sources associating them with GUCY2C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure and functional expression of the human receptor for Escherichia coli heat-stable enterotoxin. (PubMed id 1680854)1, 2, 9 de Sauvage F.J.... Goeddel D.V. (1991)
    2. Isolation and expression of a guanylate cyclase-coupled heat stable enterotoxin receptor cDNA from a human colonic cell line. (PubMed id 1718270)1, 2, 9 Singh S.... Gerzer R. (1991)
    3. Cell line-specific transcriptional activation of the promoter of the human guanylyl cyclase C/heat-stable enterotoxin receptor gene. (PubMed id 8605253)1, 2, 9 Mann E.A.... Giannella R.A. (1996)
    4. Site-specific N-linked glycosylation of receptor guanylyl cyclase C regulates ligand binding, ligand-mediated activation and interaction with vesicular integral membrane protein 36, VIP36. (PubMed id 23269669)1, 2 Arshad N.... Visweswariah S.S. (2013)
    5. Meconium ileus caused by mutations in GUCY2C, encoding the CFTR- activating guanylate cyclase 2C. (PubMed id 22521417)1, 2 Romi H....Birk O.S. (2012)
    6. Familial diarrhea syndrome caused by an activating GUCY2C mutation. (PubMed id 22436048)1, 2 Fiskerstrand T.... Knappskog P.M. (2012)
    7. A novel PDZ protein regulates the activity of guanylyl cyclase C, the heat-stable enterotoxin receptor. (PubMed id 11950846)1, 2 Scott R.O.... Milgram S.L. (2002)
    8. Localization of the guanylyl cyclase C gene to mouse chromosome 6 and human chromosome 12p12. (PubMed id 8661067)1, 3 Mann E.A....Giannella R.A. (1996)
    9. Comparison of receptors for Escherichia coli heat-stable enterotoxin: novel receptor present in IEC-6 cells. (PubMed id 8381596)1, 2 Mann E.A.... Giannella R.A. (1993)
    10. Guanylyl cyclase C is a specific marker for different iating primary and metastatic ovarian mucinous neoplasms. (PubMed id 19694825)1, 9 Ciocca V....Waldman S.A. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2984 HGNC: 4688 AceView: GUCY2C Ensembl:ENSG00000070019 euGenes: HUgn2984
    ECgene: GUCY2C Kegg: 2984 H-InvDB: GUCY2C

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GUCY2C Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GUCY2C Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GUCY2C gene:
    Search GeneIP for patents involving GUCY2C

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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