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Aliases for GUCY2C Gene

Aliases for GUCY2C Gene

  • Guanylate Cyclase 2C 2 3 5
  • STA Receptor 2 3 4
  • Heat Stable Enterotoxin Receptor 2 3
  • Intestinal Guanylate Cyclase 3 4
  • Guanylyl Cyclase C 3 4
  • EC 4.6.1.2 4 63
  • GUC2C 3 4
  • HSTAR 3 4
  • STAR 3 4
  • GC-C 3 4
  • Guanylate Cyclase 2C (Heat Stable Enterotoxin Receptor) 2
  • EC 4.6.1 63
  • DIAR6 3
  • MECIL 3
  • MUCIL 3

External Ids for GUCY2C Gene

Previous HGNC Symbols for GUCY2C Gene

  • GUC2C

Previous GeneCards Identifiers for GUCY2C Gene

  • GC12M014505
  • GC12M014910
  • GC12M014665
  • GC12M014656
  • GC12M014765
  • GC12M014534

Summaries for GUCY2C Gene

GeneCards Summary for GUCY2C Gene

GUCY2C (Guanylate Cyclase 2C) is a Protein Coding gene. Diseases associated with GUCY2C include Meconium Ileus and Diarrhea 6. Among its related pathways are CREB Pathway and Visual Cycle in Retinal Rods. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is GUCY1A3.

UniProtKB/Swiss-Prot for GUCY2C Gene

  • 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 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GUCY2C Gene

Genomics for GUCY2C Gene

Regulatory Elements for GUCY2C Gene

Enhancers for GUCY2C Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GUCY2C on UCSC Golden Path with GeneCards custom track

Genomic Location for GUCY2C Gene

Chromosome:
12
Start:
14,612,632 bp from pter
End:
14,696,618 bp from pter
Size:
83,987 bases
Orientation:
Minus strand

Genomic View for GUCY2C Gene

Genes around GUCY2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GUCY2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GUCY2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GUCY2C Gene

Proteins for GUCY2C Gene

  • Protein details for GUCY2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25092-GUC2C_HUMAN
    Recommended name:
    Heat-stable enterotoxin receptor
    Protein Accession:
    P25092
    Secondary Accessions:
    • B2RMY6

    Protein attributes for GUCY2C Gene

    Size:
    1073 amino acids
    Molecular mass:
    123403 Da
    Quaternary structure:
    • Homotrimer. Interacts via its C-terminal region with PDZK2. Interacts with the lectin chaperone VIP36.

neXtProt entry for GUCY2C Gene

Proteomics data for GUCY2C Gene at MOPED

Post-translational modifications for GUCY2C Gene

  • 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.
  • Glycosylation at Asn 32, Asn 75, Asn 79, Asn 195, Asn 284, Asn 307, Asn 345, and Asn 402
  • Modification sites at PhosphoSitePlus

Other Protein References for GUCY2C Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GUCY2C Gene

Suggested Antigen Peptide Sequences for GUCY2C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P25092

UniProtKB/Swiss-Prot:

GUC2C_HUMAN :
  • The protein kinase domain is predicted to be catalytically inactive.
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
Domain:
  • The protein kinase domain is predicted to be catalytically inactive.
  • Contains 1 guanylate cyclase domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
genes like me logo Genes that share domains with GUCY2C: view

Function for GUCY2C Gene

Molecular function for GUCY2C Gene

GENATLAS Biochemistry:
guanylate cyclase C,transmembrane receptor primarily expressed in the intestine
UniProtKB/Swiss-Prot CatalyticActivity:
GTP = 3,5-cyclic GMP + diphosphate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for GUCY2C Gene

Gene Ontology (GO) - Molecular Function for GUCY2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004016 NOT adenylate cyclase activity IBA --
GO:0004672 protein kinase activity IEA --
genes like me logo Genes that share ontologies with GUCY2C: view
genes like me logo Genes that share phenotypes with GUCY2C: view

Human Phenotype Ontology for GUCY2C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GUCY2C Gene

MGI Knock Outs for GUCY2C:

Animal Model Products

CRISPR Products

miRNA for GUCY2C Gene

miRTarBase miRNAs that target GUCY2C

No data available for Transcription Factor Targets and HOMER Transcription for GUCY2C Gene

Localization for GUCY2C Gene

Subcellular locations from UniProtKB/Swiss-Prot for GUCY2C Gene

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GUCY2C Gene COMPARTMENTS Subcellular localization image for GUCY2C gene
Compartment Confidence
cytosol 4
endoplasmic reticulum 4
plasma membrane 4
extracellular 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for GUCY2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008074 guanylate cyclase complex, soluble IBA --
genes like me logo Genes that share ontologies with GUCY2C: view

Pathways & Interactions for GUCY2C Gene

genes like me logo Genes that share pathways with GUCY2C: view

Pathways by source for GUCY2C Gene

SIGNOR curated interactions for GUCY2C Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GUCY2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006182 cGMP biosynthetic process IEA --
GO:0009190 cyclic nucleotide biosynthetic process IEA --
genes like me logo Genes that share ontologies with GUCY2C: view

Drugs & Compounds for GUCY2C Gene

(13) Drugs for GUCY2C Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Linaclotide Approved Pharma Agonist, activator, Target, agonist 0
Cyclic GMP Experimental Pharma 0
Diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(6) Additional Compounds for GUCY2C Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with GUCY2C: view

Transcripts for GUCY2C Gene

mRNA/cDNA for GUCY2C Gene

Unigene Clusters for GUCY2C Gene

Guanylate cyclase 2C (heat stable enterotoxin receptor):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GUCY2C Gene

No ASD Table

Relevant External Links for GUCY2C Gene

GeneLoc Exon Structure for
GUCY2C
ECgene alternative splicing isoforms for
GUCY2C

Expression for GUCY2C Gene

mRNA expression in normal human tissues for GUCY2C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GUCY2C Gene

This gene is overexpressed in Colon - Transverse (x24.1) and Small Intestine - Terminal Ileum (x18.9).

Protein differential expression in normal tissues from HIPED for GUCY2C Gene

This gene is overexpressed in Heart (32.1), Fetal gut (15.4), Fetal ovary (13.6), and Urine (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GUCY2C Gene



SOURCE GeneReport for Unigene cluster for GUCY2C Gene Hs.524278

genes like me logo Genes that share expression patterns with GUCY2C: view

Protein tissue co-expression partners for GUCY2C Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for GUCY2C Gene

Orthologs for GUCY2C Gene

This gene was present in the common ancestor of animals.

Orthologs for GUCY2C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GUCY2C 35
  • 86.38 (n)
  • 85.45 (a)
GUCY2C 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GUCY2C 35
  • 88.12 (n)
  • 88.44 (a)
GUCY2C 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gucy2c 35
  • 81.19 (n)
  • 82.42 (a)
Gucy2c 16
Gucy2c 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GUCY2C 35
  • 99.53 (n)
  • 99.35 (a)
GUCY2C 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gucy2c 35
  • 81.81 (n)
  • 83 (a)
oppossum
(Monodelphis domestica)
Mammalia GUCY2C 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GUCY2C 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves GUCY2C 35
  • 70.31 (n)
  • 68.47 (a)
GUCY2C 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GUCY2C 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gucy2c 35
  • 64.63 (n)
  • 63.97 (a)
African clawed frog
(Xenopus laevis)
Amphibia gucy2c-A 35
zebrafish
(Danio rerio)
Actinopterygii LOC572052 35
  • 60.18 (n)
  • 57.61 (a)
gucy2c 36
  • 67 (a)
OneToMany
GUCY2C (2 of 2) 36
  • 53 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5719 37
  • 52 (a)
CG33958 36
  • 26 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea daf-11 37
  • 30 (a)
gcy-19 37
  • 37 (a)
gcy-2 37
  • 36 (a)
gcy-27 37
  • 34 (a)
gcy-3 37
  • 35 (a)
gcy-4 37
  • 38 (a)
gcy-8 37
  • 32 (a)
odr-1 37
  • 33 (a)
gcy-21 36
  • 22 (a)
ManyToMany
Species with no ortholog for GUCY2C:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GUCY2C Gene

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

Paralogs for GUCY2C Gene

Paralogs for GUCY2C Gene

(3) SIMAP similar genes for GUCY2C Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GUCY2C: view

Variants for GUCY2C Gene

Sequence variations from dbSNP and Humsavar for GUCY2C Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs56142849 - 14,696,361(+) GTGGC(A/G)GTTCT intron-variant, reference, missense
VAR_042222 A metastatic melanoma sample
rs56275235 - 14,686,215(+) CCATC(C/T)GTTGT reference, missense
rs55684775 - 14,656,591(+) TCTGA(A/C/T)GAAGT reference, missense
rs55897626 - 14,643,676(+) GACTT(C/T)TGTCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GUCY2C Gene

Variant ID Type Subtype PubMed ID
nsv898817 CNV Gain 21882294
nsv528779 CNV Loss 19592680

Variation tolerance for GUCY2C Gene

Residual Variation Intolerance Score: 14.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.08; 38.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GUCY2C Gene

Human Gene Mutation Database (HGMD)
GUCY2C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GUCY2C Gene

Disorders for GUCY2C Gene

MalaCards: The human disease database

(9) MalaCards diseases for GUCY2C Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
meconium ileus
  • mecil
diarrhea 6
  • diar6
intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency
  • meconium ileus due to guanylate cyclase 2c deficiency
chronic diarrhea due to guanylate cyclase 2c overactivity
  • diarrhea 6
diarrhea
  • diarrhea of presumed infectious origin
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GUC2C_HUMAN
  • 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. {ECO:0000269 PubMed:22436048}. 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. {ECO:0000269 PubMed:22521417}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GUCY2C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GUCY2C
genes like me logo Genes that share disorders with GUCY2C: view

No data available for Genatlas for GUCY2C Gene

Publications for GUCY2C Gene

  1. Primary structure and functional expression of the human receptor for Escherichia coli heat-stable enterotoxin. (PMID: 1680854) de Sauvage F.J. … Goeddel D.V. (J. Biol. Chem. 1991) 3 4 23 67
  2. Cross talk between receptor guanylyl cyclase C and c-src tyrosine kinase regulates colon cancer cell cytostasis. (PMID: 19620276) Basu N. … Visweswariah S.S. (Mol. Cell. Biol. 2009) 3 23
  3. The linker region in receptor guanylyl cyclases is a key regulatory module: mutational analysis of guanylyl cyclase C. (PMID: 19648115) Saha S. … Visweswariah S.S. (J. Biol. Chem. 2009) 3 23
  4. Guanylyl cyclase C is a specific marker for differentiating primary and metastatic ovarian mucinous neoplasms. (PMID: 19694825) Ciocca V. … Waldman S.A. (Histopathology 2009) 3 23
  5. Bile acids induce ectopic expression of intestinal guanylyl cyclase C Through nuclear factor-kappaB and Cdx2 in human esophageal cells. (PMID: 16618413) Debruyne P.R. … Waldman S.A. (Gastroenterology 2006) 3 23

Products for GUCY2C Gene

Sources for GUCY2C Gene

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