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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
  • EC 4.6.1.2 4 58
  • GUC2C 3 4
  • STAR 3 4
  • GC-C 3 4
  • Guanylate Cyclase 2C (Heat Stable Enterotoxin Receptor) 2
  • Heat Stable Enterotoxin Receptor 2
  • Heat-Stable Enterotoxin Receptor 3
  • EC 4.6.1 58
  • 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 Nanog in Mammalian ESC Pluripotency and Metabolism. 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 NPR1.

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

Regulatory Elements for GUCY2C Gene

Enhancers for GUCY2C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H014566 1 ENCODE dbSUPER 19.5 +128.6 128578 2 TBP ATF1 MAX YY1 E2F1 POLR2A CREM EZH2 L3MBTL2 NRF1 GUCY2C ATF7IP ENSG00000261324 ENSG00000214772 WBP11 HIST4H4 PLBD1 PLBD1-AS1
GH12H014755 1.1 Ensembl ENCODE dbSUPER 11 -60.1 -60102 2 CTCF SCRT2 RUNX3 RAD21 MAFK SP7 C12orf60 GUCY2C SMCO3 WBP11 ENSG00000261324 GC12M014736
GH12H014613 1.1 Ensembl ENCODE 10.7 +82.3 82273 2 PKNOX1 TBL1XR1 BMI1 BATF ZNF143 ATF7 ETV6 RUNX3 IKZF2 CREM PLBD1 PLBD1-AS1 GUCY2C GC12P014627
GH12H014577 1 Ensembl ENCODE dbSUPER 10 +119.1 119100 0 ZNF316 POLR2A CBFB RUNX3 MAFK HIST4H4 GUCY2C PLBD1 GC12P014627
GH12H014665 0.5 ENCODE 18.3 +30.6 30613 0 MAX POU5F1 CREB1 ATF2 GABPA GUCY2C ENSG00000214772
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Selected DME Specific Peptides for GUCY2C Gene

P25092:
  • YKVETIGDAY
  • PKKDLWTAPEHLR
  • TLAKIFGLFHDQKNESYMDTLIRRLQLYSRNLEHLVEER
  • LRQKKWSHIP
  • AGVVGIKM
  • EDCFWYLNALEA
  • LLFGHML
  • CWEEDPEKRPDFKKIE
  • KPFRPDLFLETA
  • FSDIVGFT
  • ASRMEST
  • PRYCLFGDTVNTASRMES
  • DCRSSTCEGLDLLR
  • RGETYLKG
  • MPRYCLFG

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 posLast=3232, posLast=7575, posLast=7979, posLast=195195, posLast=284284, posLast=307307, isoforms=345, and isoforms=402
  • Modification sites at PhosphoSitePlus

Other Protein References for GUCY2C Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GUCY2C Gene

Gene 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.
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:0004383 guanylate cyclase activity IBA,TAS --
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

CRISPR Products

miRNA for GUCY2C Gene

miRTarBase miRNAs that target GUCY2C

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GUCY2C
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 IBA,TAS --
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:0007168 receptor guanylyl cyclase signaling pathway TAS 1680854
GO:0007586 digestion TAS --
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
Plecanatide Approved 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
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GUCY2C
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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
Organs:
Abdomen:
  • intestine
  • large intestine
  • small intestine
genes like me logo Genes that share expression patterns with GUCY2C: view

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
chimpanzee
(Pan troglodytes)
Mammalia GUCY2C 33 34
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia GUCY2C 33 34
  • 88.12 (n)
cow
(Bos Taurus)
Mammalia GUCY2C 33 34
  • 86.38 (n)
rat
(Rattus norvegicus)
Mammalia Gucy2c 33
  • 81.81 (n)
mouse
(Mus musculus)
Mammalia Gucy2c 33 16 34
  • 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 33 34
  • 70.31 (n)
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)

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
rs587776871 Pathogenic, Diarrhea 6 (DIAR6) [MIM:614616] 14,622,087(+) GGGTG(A/C)TGTAT intron-variant, reference, missense
rs587776905 Pathogenic, Meconium ileus (MECIL) [MIM:614665] 14,672,883(+) TGGTG(C/T)CCACA intron-variant, reference, missense
VAR_042222 A metastatic melanoma sample
rs1057519441 Pathogenic 14,683,243(-) AGAAT(C/T)GAGCT intron-variant, reference, missense
rs587784572 Pathogenic 14,641,142(-) TCATC(A/G)CACAG intron-variant, reference, missense

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)

Relevant External Links 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

(12) MalaCards diseases for GUCY2C Gene - From: HGMD, OMIM, ClinVar, GeneTests, 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
  • chronic diarrhea due to guanylate cyclase 2c overactivity
duodenal atresia
  • duodenal stenosis
chronic diarrhea due to guanylate cyclase 2c overactivity
  • diarrhea 6
right atrial isomerism
  • asplenia with cardiovascular anomalies
- 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. 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 60
  2. 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 60
  3. 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 60
  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 60
  5. Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C. (PMID: 22521417) Romi H … Birk OS (American journal of human genetics 2012) 3 4 60

Products for GUCY2C Gene

Sources for GUCY2C Gene

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