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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GUCY2C
guanylate cyclase 2C
Chromosome 12 Β· 12p12.3
NCBI Gene: 2984Ensembl: ENSG00000070019.6HGNC: HGNC:4688UniProt: P25092
64PubMed Papers
22Diseases
4Drugs
13Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingguanylate cyclase activitypeptide receptor activitycGMP biosynthetic processMeconium ileuscongenital diarrhea 6Chronic diarrhea due to guanylate cyclase 2C overactivityDiarrhea
✦AI Summary

GUCY2C is a transmembrane guanylate cyclase that catalyzes cGMP synthesis from GTP in intestinal epithelial cells 12. The receptor is activated by endogenous peptides guanylin and uroguanylin, as well as by bacterial enterotoxins 34. Beyond its canonical role in intestinal fluid and electrolyte homeostasis, GUCY2C has emerged as a critical therapeutic target across multiple disease contexts. In visceral pain syndromes, GUCY2C expressed in intestinal neuropod cells regulates neuronal excitability; FDA-approved GUCY2C agonists like linaclotide ameliorate pain in chr12 constipation patients through neuropod-specific signaling mechanisms 5. Functionally, GUCY2C acts as a tumor suppressor, with loss of GUCY2C signaling implicated in colorectal tumorigenesis initiation 6. Clinically, GUCY2C serves as an ideal immunotherapy target because it is expressed nearly universally in colorectal cancers while restricted to intestinal epithelium in normal tissues 7. Multiple GUCY2C-targeted immunotherapies are in development, including bispecific CD3-engaging antibodies 89 and CAR-T cells 1011, with early clinical trials demonstrating objective response rates in heavily pretreated metastatic colorectal cancer patients 12.

Sources cited
1
In visceral pain syndromes, GUCY2C expressed in intestinal neuropod cells regulates neuronal excitability; FDA-approved GUCY2C agonists like linaclotide ameliorate pain in chr12 constipation patients through neuropod-specific signaling mechanisms .
PMID: 36548082
2
Functionally, GUCY2C acts as a tumor suppressor, with loss of GUCY2C signaling implicated in colorectal tumorigenesis initiation .
PMID: 27104761
3
Clinically, GUCY2C serves as an ideal immunotherapy target because it is expressed nearly universally in colorectal cancers while restricted to intestinal epithelium in normal tissues .
PMID: 22038530
4
Multiple GUCY2C-targeted immunotherapies are in development, including bispecific CD3-engaging antibodies , and CAR-T cells , , with early clinical trials demonstrating objective response rates in heavily pretreated metastatic colorectal cancer patients .
PMID: 34056991
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
Meconium ileusOpen Targets
0.74Strong
congenital diarrhea 6Open Targets
0.72Strong
Chronic diarrhea due to guanylate cyclase 2C overactivityOpen Targets
0.65Moderate
DiarrheaOpen Targets
0.65Moderate
intestinal obstruction in the newborn due to guanylate cyclase 2C deficiencyOpen Targets
0.65Moderate
irritable bowel syndromeOpen Targets
0.59Moderate
ConstipationOpen Targets
0.58Moderate
constipation disorderOpen Targets
0.44Moderate
Chronic constipationOpen Targets
0.39Weak
congenital sodium diarrheaOpen Targets
0.37Weak
gastroenteritisOpen Targets
0.37Weak
Abnormal biliary tract morphologyOpen Targets
0.33Weak
duodenal atresiaOpen Targets
0.33Weak
familial isolated congenital aspleniaOpen Targets
0.33Weak
Reduced number of intrahepatic bile ductsOpen Targets
0.33Weak
prostate carcinomaOpen Targets
0.28Weak
brain cancerOpen Targets
0.27Weak
Crohn's diseaseOpen Targets
0.26Weak
preeclampsiaOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
Diarrhea 6UniProt
Meconium ileusUniProt
Pathogenic Variants13
NM_004963.4(GUCY2C):c.1160A>G (p.Asp387Gly)Pathogenic
Meconium ileus|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 387
NM_004963.4(GUCY2C):c.2381A>T (p.Asp794Val)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 794
NM_004963.4(GUCY2C):c.2323C>G (p.Leu775Val)Likely pathogenic
Congenital diarrhea 6
β˜…β˜†β˜†β˜†2024β†’ Residue 775
NM_004963.4(GUCY2C):c.2536G>A (p.Val846Met)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 846
NM_004963.4(GUCY2C):c.2328A>C (p.Glu776Asp)Likely pathogenic
Congenital diarrhea 6
β˜…β˜†β˜†β˜†2023β†’ Residue 776
NM_004963.4(GUCY2C):c.758del (p.Glu253fs)Likely pathogenic
Congenital diarrhea 6;Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
β˜…β˜†β˜†β˜†2023β†’ Residue 253
NM_004963.4(GUCY2C):c.245dup (p.Met83fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 83
NM_004963.4(GUCY2C):c.2324T>C (p.Leu775Pro)Pathogenic
Congenital diarrhea 6
β˜…β˜†β˜†β˜†2019β†’ Residue 775
NM_004963.4(GUCY2C):c.1047del (p.Lys350fs)Likely pathogenic
Meconium ileus
β˜…β˜†β˜†β˜†2019β†’ Residue 350
NM_004963.4(GUCY2C):c.2782T>C (p.Cys928Arg)Pathogenic
Meconium ileus
β˜†β˜†β˜†β˜†2014β†’ Residue 928
NM_004963.4(GUCY2C):c.2270dup (p.Asn757fs)Pathogenic
Meconium ileus
β˜†β˜†β˜†β˜†2012β†’ Residue 757
NM_004963.4(GUCY2C):c.2519G>T (p.Ser840Ile)Pathogenic
Congenital diarrhea 6
β˜†β˜†β˜†β˜†2012β†’ Residue 840
NM_004963.4(GUCY2C):c.410T>C (p.Leu137Ser)Pathogenic
Abnormal biliary tract morphology;Asplenia;Duodenal atresia;Reduced number of intrahepatic bile ducts
β˜†β˜†β˜†β˜†β†’ Residue 137
View on ClinVar β†—
Drug Targets4
DOLCANATIDEPhase II
Heat-stable enterotoxin receptor agonist
ulcerative colitis
INDUSATUMAB VEDOTINPhase II
Heat-stable enterotoxin receptor binding agent
LINACLOTIDEApproved
Heat-stable enterotoxin receptor agonist
irritable bowel syndrome
PLECANATIDEApproved
Heat-stable enterotoxin receptor agonist
Related Genes
PDE6GProtein interaction100%NME1Protein interaction99%EMDProtein interaction99%PDE6BProtein interaction98%NME2Protein interaction97%PDE1CProtein interaction96%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
20%
Liver
12%
Brain
8%
Lung
5%
Ovary
4%
Gene Interaction Network
Click a node to explore
GUCY2CPDE6GNME1EMDPDE6BNME2PDE1C
PROTEIN STRUCTURE
Preparing viewer…
PDB8GHO Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.60–1.12]
RankingsWhere GUCY2C stands among ~20K protein-coding genes
  • #7,272of 20,598
    Most Researched64
  • #636of 1,025
    FDA-Approved Drug Targets2
  • #2,603of 5,498
    Most Pathogenic Variants13
  • #11,504of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedGUCY2C
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A Novel GUCY2C-CD3 T-Cell Engaging Bispecific Construct (PF-07062119) for the Treatment of Gastrointestinal Cancers.
PMID: 31996389
Clin Cancer Res Β· 2020
1.00
2
Chimeric Antigen Receptor T Cells Targeting CD19 and GCC in Metastatic Colorectal Cancer: A Nonrandomized Clinical Trial.
PMID: 39298141
JAMA Oncol Β· 2024
0.90
3
Antigen-independent activation is critical for the durable antitumor effect of GUCY2C-targeted CAR-T cells.
PMID: 39366753
J Immunother Cancer Β· 2024
0.80
4
Guanylyl cyclase 2C (GUCY2C) in gastrointestinal cancers: recent innovations and therapeutic potential.
PMID: 34056991
Expert Opin Ther Targets Β· 2021
0.70
5
Intestinal neuropod cell GUCY2C regulates visceral pain.
PMID: 36548082
J Clin Invest Β· 2023
0.60