GUCY2C
Summary: 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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:601330 Ensembl IDEnsembl:ENSG00000070019 HGNC IDHGNC:HGNC:4688 PHARMGKB IDPA29069 Map Location12p12.3 | |||||
GO terms in GUCY2C
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IBA | GO:0006182 | cGMP biosynthetic process |
| BP | IEA | GO:0006468 | protein phosphorylation |
| BP | IBA | GO:0007165 | signal transduction |
| BP | TAS | GO:0007168 | receptor guanylyl cyclase signaling pathway |
| BP | TAS | GO:0007586 | digestion |
| BP | IBA | GO:0009190 | cyclic nucleotide biosynthetic process |
Gene expression in normal tissue: GUCY2C
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GUCY2C
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa00230 | Purine metabolism - Homo sapiens (human) |
| biocarta | no1pathway | actions of nitric oxide in the heart |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-5339562 | Uptake and actions of bacterial toxins |
| reactome | R-HSA-5663205 | Infectious disease |
| reactome | R-HSA-8935690 | Digestion |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GUCY2C
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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