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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| guanylate cyclase 2C | MIM:601330 | Ensembl:ENSG00000070019 | HGNC:HGNC:4688 | PA29069 | 12p12.3 |
GO terms in GUCY2C
| 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 |
| BP | IEA | GO:0009636 | response to toxic substance |
| BP | IEA | GO:0035556 | intracellular signal transduction |
| BP | IEA | GO:0042127 | regulation of cell proliferation |
| CC | IEA | GO:0005789 | endoplasmic reticulum membrane |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0008074 | guanylate cyclase complex, soluble |
| CC | IEA | GO:0016021 | integral component of membrane |
| MF | IBA | GO:0004016 | adenylate cyclase activity |
| MF | IBA | GO:0004383 | guanylate cyclase activity |
| MF | IEA | GO:0004672 | protein kinase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IEA | GO:0005525 | GTP binding |
| MF | IEA | GO:0015643 | toxic substance binding |
Gene expression in normal tissue: GUCY2C
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GUCY2C
| 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 |
| reactome | R-HSA-8942233 | Intestinal infectious diseases |
| reactome | R-HSA-8963743 | Digestion and absorption |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD138 | PX 12 | 3 |
| iGMDRD77 | Itraconazole | 3 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD670 | ML 210 | 3 |
| iGMDRD639 | YK 4-279 | 2 |
| iGMDRD398 | Sepantronium | 4 |
| iGMDRD71 | Sparfosic acid | 3 |
| iGMDRD297 | Austocystin D | 3 |
| iGMDRD211 | (1S,3R)-RSL3 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GUCY2C
CLASSFICATION
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