GUCY2D
Summary: This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:600179 Ensembl IDEnsembl:ENSG00000132518 HGNC IDHGNC:HGNC:4689 PHARMGKB IDPA187 Map Location17p13.1 | |||||
GO terms in GUCY2D
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0004016 | adenylate cyclase activity |
| MF | IBA | GO:0004383 | guanylate cyclase activity |
| MF | TAS | GO:0004383 | guanylate cyclase activity |
| MF | IEA | GO:0004672 | protein kinase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
Gene expression in normal tissue: GUCY2D
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GUCY2D
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa00230 | Purine metabolism - Homo sapiens (human) |
| kegg | hsa04740 | Olfactory transduction - Homo sapiens (human) |
| kegg | hsa04744 | Phototransduction - Homo sapiens (human) |
| pid | cone_pathway | Visual signal transduction: Cones |
| pid | rhodopsin_pathway | Visual signal transduction: Rods |
| biocarta | no1pathway | actions of nitric oxide in the heart |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GUCY2D
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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