Gene
gucy2d
- ID
- ZDB-GENE-011128-9
- Name
- guanylate cyclase 2D, retinal
- Symbol
- gucy2d Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable adenylate cyclase activity; guanylate cyclase activity; and peptide receptor activity. Predicted to be involved in cGMP biosynthetic process and receptor guanylyl cyclase signaling pathway. Predicted to act upstream of or within cyclic nucleotide biosynthetic process; intracellular signal transduction; and visual perception. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in head. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 1; choroidal sclerosis; cone-rod dystrophy 6; congenital stationary night blindness; and retinitis pigmentosa. Orthologous to human GUCY2D (guanylate cyclase 2D, retinal).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| choroidal sclerosis | Alliance | ?Choroidal dystrophy, central areolar 1 | 215500 |
| cone-rod dystrophy 6 | Alliance | Cone-rod dystrophy 6 | 601777 |
| Leber congenital amaurosis 1 | Alliance | Leber congenital amaurosis 1 | 204000 |
| Night blindness, congenital stationary, type 1I | 618555 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018297 | Adenylyl cyclase class-4/guanylyl cyclase, conserved site |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR001054 | Adenylyl cyclase class-3/4/guanylyl cyclase |
| Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
| Domain | IPR001828 | Receptor, ligand binding region |
| Domain | IPR011645 | Haem NO binding associated |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR028082 | Periplasmic binding protein-like I |
| Homologous_superfamily | IPR029787 | Nucleotide cyclase |
Domain Details Per Protein
| Protein | Length | Adenylyl cyclase class-3/4/guanylyl cyclase | Adenylyl cyclase class-4/guanylyl cyclase, conserved site | Haem NO binding associated | Nucleotide cyclase | Periplasmic binding protein-like I | Protein kinase domain | Protein kinase-like domain superfamily | Receptor, ligand binding region | Serine-threonine/tyrosine-protein kinase, catalytic domain |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A5PLH7
|
128 | |||||||||
|
UniProtKB:A0A8M2BCH5
|
1141 | |||||||||
|
UniProtKB:F1QSL9
|
1137 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
gucy2d-202
(1)
|
4522 nt |
Interactions and Pathways
No data available
Plasmids
No data available