GUCY2C Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | GUCY2C |
| Official Name | guanylate cyclase 2C [Source:HGNC Symbol;Acc:HGNC:4688] |
| Ensembl ID | ENSG00000070019 |
| Bio databases IDs | |
| Aliases | guanylate cyclase 2C, STA receptor, heat stable enterotoxin receptor |
| Synonyms | DIAR6, GC-C, guanylate cyclase 2C, GUC2C, HSER, LOC100359629, MECIL, MUCIL, STAR |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GUCY2C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- Receptor family ligand binding region
- Protein kinase (unclassified specificity)
- catalytic domain
- Protein tyrosine and serine/threonine kinase
- protein binding
- protein-tyrosine kinase
- Protein kinase domain
- kinase
- Serine/Threonine protein kinases, catalytic domain
- Protein Kinases, catalytic domain
- Type 1 periplasmic binding fold superfamily
- guanylate cyclase
- intracellular domain
- Class III nucleotidyl cyclases
- Adenylyl- / guanylyl cyclase, catalytic domain
- PDZ binding motif
- C-terminal extension
- Tyrosine kinase, catalytic domain
- toxin binding
Pathways
Biological processes and signaling networks where the GUCY2C gene in human plays a role, providing insight into its function and relevance in health or disease.
- Adrenomedullin signaling pathway
- Antiproliferative Role of Somatostatin Receptor 2
- Cellular Effects of Sildenafil (Viagra)
- Circadian Rhythm Signaling
- Corticotropin Releasing Hormone Signaling
- Endothelin-1 Signaling
- Gap Junction Signaling
- Nitric Oxide Signaling in the Cardiovascular System
- Phototransduction Pathway
- Relaxin Signaling
- Synaptic Long Term Depression
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- weight gain
- hyperphagia
- cardiac hypertrophy
- hepatic steatosis
- insulin-dependent diabetes mellitus
- functional constipation
- chronic idiopathic constipation
- gastrointestinal hemorrhage
- constipation
- meconium ileus
role in cell
- apoptosis
- proliferation
- excitation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- cellular membrane
- apical cell surfaces
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GUCY2C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cGMP biosynthetic process
- receptor guanylyl cyclase signaling pathway
- response to toxin
- intracellular signal transduction
- regulation of cell proliferation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- GTP binding
- toxin binding
- ATP binding
- peptide receptor activity
- protein binding
- guanylate cyclase activity
- protein kinase activity
- adenylate cyclase activity