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 |
|---|---|---|---|---|---|
| guanylate cyclase 2D, retinal | MIM:600179 | Ensembl:ENSG00000132518 | HGNC:HGNC:4689 | PA187 | 17p13.1 |
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 |
| MF | IEA | GO:0005525 | GTP binding |
| MF | TAS | GO:0038023 | signaling receptor activity |
| 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 | IEA | GO:0007601 | visual perception |
| BP | IBA | GO:0009190 | cyclic nucleotide biosynthetic process |
| BP | TAS | GO:0022400 | regulation of rhodopsin mediated signaling pathway |
| BP | IEA | GO:0035556 | intracellular signal transduction |
| CC | TAS | GO:0005640 | nuclear outer membrane |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | IBA | GO:0008074 | guanylate cyclase complex, soluble |
| CC | TAS | GO:0097381 | photoreceptor disc membrane |
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 |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-2187338 | Visual phototransduction |
| reactome | R-HSA-2514856 | The phototransduction cascade |
| reactome | R-HSA-2514859 | Inactivation, recovery and regulation of the phototransduction cascade |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-418594 | G alpha (i) signalling events |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD630 | ML203 | 3 |
| iGMDRD505 | Pevonedistat | 1 |
| iGMDRD60 | Quinoclamine | 2 |
| iGMDRD366 | PI-103 | 3 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD100 | Zebularine | 3 |
| iGMDRD67 | PENFLURIDOL | 3 |
| iGMDRD414 | MST-312 | 3 |
| iGMDRD187 | BRD9876 | 1 |
| iGMDRD221 | Tamoxifen | 3 |
| iGMDRD6 | AM-580 | 3 |
| iGMDRD207 | Capsaicin | 1 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD192 | CIL56 | 3 |
| iGMDRD171 | Pemetrexed | 2 |
| iGMDRD255 | SB225002 | 3 |
| iGMDRD513 | BML-259 | 1 |
| iGMDRD679 | Bistramide A | 3 |
| iGMDRD57 | Chloropentafluorobenzene | 2 |
| iGMDRD152 | 179324-69-7 | 2 |
| iGMDRD237 | ABT-751 | 3 |
| iGMDRD546 | BMS-754807 | 2 |
| iGMDRD84 | Lovastatin acid | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GUCY2D
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