Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GUCY2C Gene

Aliases for GUCY2C Gene

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

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

Entrez Gene Summary for GUCY2C Gene

  • This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016]

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 Pyrimidine metabolism (KEGG) and Metabolism. Gene Ontology (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 GUCY2D.

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

Additional gene information for GUCY2C Gene

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

Genomics for GUCY2C Gene

GeneHancer (GH) Regulatory Elements for GUCY2C Gene

Promoters and enhancers for GUCY2C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J014694 Promoter/Enhancer 1 EPDnew ENCODE 664.9 +0.9 878 2.4 USF1 POLR2A ZNF644 ZBTB12 GUCY2C ENSG00000214772
GH12J014711 Promoter 0.5 EPDnew 650.4 -13.7 -13667 0.1 GUCY2C GC12M014736 ENSG00000214772
GH12J014566 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 19.5 +128.6 128577 2.6 USF1 ATF1 MAX YY1 E2F1 POLR2A RBM22 CREM EZH2 ZNF639 PLBD1 PLBD1-AS1 GUCY2C ATF7IP ENSG00000261324 ENSG00000214772 WBP11 HIST4H4
GH12J014665 Enhancer 0.6 ENCODE 18.3 +30.6 30613 0.8 MAX SIN3A ATF2 GABPA POLR2A GABPB1 CREB1 POU5F1 ENSG00000214772 GUCY2C
GH12J014613 Enhancer 1 Ensembl ENCODE 10.7 +82.3 82273 2.3 PKNOX1 STAT5A BMI1 BATF IRF4 ZNF143 ATF7 ETV6 BCLAF1 IKZF2 PLBD1 PLBD1-AS1 GUCY2C GC12P014627
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GUCY2C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GUCY2C gene promoter:
  • LCR-F1
  • Sox5
  • PPAR-alpha
  • Arnt
  • AREB6
  • RORalpha1
  • ER-alpha
  • MEF-2A
  • aMEF-2
  • STAT5A

Genomic Locations for GUCY2C Gene

Genomic Locations for GUCY2C Gene
chr12:14,612,632-14,696,618
(GRCh38/hg38)
Size:
83,987 bases
Orientation:
Minus strand
chr12:14,765,566-14,849,519
(GRCh37/hg19)
Size:
83,954 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

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 Asn402, isoforms=345, Asn307, Asn284, isoforms=195, isoforms=79, isoforms=75, and Asn32
  • Modification sites at PhosphoSitePlus

Other Protein References for GUCY2C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GUCY2C Gene

Domains & Families for GUCY2C Gene

Gene Families for GUCY2C Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

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.
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

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

Enzyme Numbers (IUBMB) for GUCY2C Gene

Gene Ontology (GO) - Molecular Function for GUCY2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004016 adenylate cyclase activity IBA --
GO:0004383 guanylate cyclase activity TAS,IBA --
GO:0004672 protein kinase activity IEA --
GO:0005515 protein binding IPI 11950846
GO:0005524 ATP binding 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

miRNA for GUCY2C Gene

miRTarBase miRNAs that target GUCY2C

Clone Products

  • R&D Systems cDNA Clones for GUCY2C (Guanylyl Cyclase C/GUCY2C)

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GUCY2C gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4
cytosol 4
extracellular 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GUCY2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane TAS,IBA --
GO:0008074 guanylate cyclase complex, soluble IBA --
GO:0016020 membrane IEA --
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

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 IBA --
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction IBA --
GO:0007168 receptor guanylyl cyclase signaling pathway TAS 1680854
GO:0007586 digestion TAS --
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
Plecanatide Approved, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Cyclic GMP Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with GUCY2C: view

Transcripts for GUCY2C Gene

mRNA/cDNA for GUCY2C Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(29) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GUCY2C Gene

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

Clone Products

  • R&D Systems cDNA Clones for GUCY2C (Guanylyl Cyclase C/GUCY2C)

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for GUCY2C Gene



Protein tissue co-expression partners for GUCY2C Gene

NURSA nuclear receptor signaling pathways regulating expression of GUCY2C Gene:

GUCY2C

SOURCE GeneReport for Unigene cluster for GUCY2C Gene:

Hs.524278

Evidence on tissue expression from TISSUES for GUCY2C Gene

  • Intestine(3.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GUCY2C Gene

Germ Layers:
  • endoderm
Systems:
  • digestive
Regions:
Abdomen:
  • intestine
  • large intestine
  • small intestine
genes like me logo Genes that share expression patterns with GUCY2C: view

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
chimpanzee
(Pan troglodytes)
Mammalia GUCY2C 34 33
  • 99.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GUCY2C 34 33
  • 88.12 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GUCY2C 34 33
  • 86.38 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gucy2c 33
  • 81.81 (n)
mouse
(Mus musculus)
Mammalia Gucy2c 16 34 33
  • 81.19 (n)
oppossum
(Monodelphis domestica)
Mammalia GUCY2C 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GUCY2C 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves GUCY2C 34 33
  • 70.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GUCY2C 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gucy2c 33
  • 64.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia gucy2c-A 33
zebrafish
(Danio rerio)
Actinopterygii gucy2c 34
  • 67 (a)
OneToMany
LOC572052 33
  • 60.18 (n)
GUCY2C (2 of 2) 34
  • 53 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5719 35
  • 52 (a)
CG33958 34
  • 26 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea gcy-4 35
  • 38 (a)
gcy-19 35
  • 37 (a)
gcy-2 35
  • 36 (a)
gcy-3 35
  • 35 (a)
gcy-27 35
  • 34 (a)
odr-1 35
  • 33 (a)
gcy-8 35
  • 32 (a)
daf-11 35
  • 30 (a)
gcy-21 34
  • 22 (a)
ManyToMany
Species where no ortholog for GUCY2C was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GUCY2C: view image

Paralogs for GUCY2C Gene

Paralogs for GUCY2C Gene

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

  • GUC2C_HUMAN
  • L0R6I0_HUMAN
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 Variation AA Info Type
rs1057519441 pathogenic, Abnormal biliary tract morphology, Asplenia, Duodenal atresia, Reduced number of intrahepatic bile ducts 14,683,243(-) A/G coding_sequence_variant, missense_variant
rs587776871 pathogenic, Diarrhea 6, Diarrhea 6 (DIAR6) [MIM:614616] 14,622,087(-) C/A coding_sequence_variant, missense_variant
rs587776905 pathogenic, Meconium ileus, Meconium ileus (MECIL) [MIM:614665] 14,672,883(-) T/C coding_sequence_variant, missense_variant
rs587784572 pathogenic, Meconium ileus 14,641,142(-) C/T coding_sequence_variant, missense_variant
rs587784573 pathogenic, Meconium ileus 14,619,304(-) A/G coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv775n106 CNV deletion 24896259
nsv1069650 CNV deletion 25765185
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)

Additional Variant Information for GUCY2C Gene

Human Gene Mutation Database (HGMD)
GUCY2C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GUCY2C

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

Disorders for GUCY2C Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
meconium ileus
  • intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency
diarrhea 6
  • diar6
duodenal atresia
  • duodenal stenosis
right atrial isomerism
  • rai
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.

Additional Disease Information for 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. Cell line-specific transcriptional activation of the promoter of the human guanylyl cyclase C/heat-stable enterotoxin/receptor gene. (PMID: 8605253) Mann EA … Glenella RA (Biochimica et biophysica acta 1996) 3 4 22 58
  2. Primary structure and functional expression of the human receptor for Escherichia coli heat-stable enterotoxin. (PMID: 1680854) de Sauvage FJ … Goeddel DV (The Journal of biological chemistry 1991) 3 4 22 58
  3. Isolation and expression of a guanylate cyclase-coupled heat stable enterotoxin receptor cDNA from a human colonic cell line. (PMID: 1718270) Singh S … Gerzer R (Biochemical and biophysical research communications 1991) 3 4 22 58
  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. (PMID: 23269669) Arshad N … Visweswariah SS (The Journal of biological chemistry 2013) 3 4 58
  5. Familial diarrhea syndrome caused by an activating GUCY2C mutation. (PMID: 22436048) Fiskerstrand T … Knappskog PM (The New England journal of medicine 2012) 3 4 58

Products for GUCY2C Gene

Sources for GUCY2C Gene

Content
Loading form....