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 have guanylate cyclase activity; natriuretic peptide receptor activity; and peptide hormone binding activity. Predicted to be involved in cGMP biosynthetic process and receptor guanylyl cyclase signaling pathway. Predicted to localize to plasma membrane. 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. Is expressed in head. 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 |
| Family | IPR050401 | Cyclic nucleotide synthase |
| 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 | Cyclic nucleotide synthase | 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 | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
gucy2d-201
(1)
|
Ensembl | 3,892 nt | ||
| mRNA |
gucy2d-202
(1)
|
Ensembl | 4,522 nt |
Interactions and Pathways
No data available
Plasmids
No data available