Gene
gucy2f
- ID
- ZDB-GENE-011128-7
- Name
- guanylate cyclase 2F, retinal
- Symbol
- gucy2f Nomenclature History
- Previous Names
-
- gc1
- RETGC-1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Enables guanylate cyclase activity. Acts upstream of or within photoreceptor cell outer segment organization and visual perception. Predicted to be active in plasma membrane. Is expressed in olfactory epithelium; olfactory receptor cell; retina; and retinal outer nuclear layer. Used to study Leber congenital amaurosis. 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 several human genes including GUCY2F (guanylate cyclase 2F, retinal).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Stiebel-Kalish et al., 2012
- Cross-Species Comparison
- Alliance
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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Leber congenital amaurosis | WT + MO2-gucy2f | standard conditions | Stiebel-Kalish et al., 2012 |
| Leber congenital amaurosis | WT + MO1-gucy2f | standard conditions | Stiebel-Kalish et al., 2012 |
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 | Additional Resources | 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:A0A8M3APR2 | InterPro | 1103 | ||||||||||
| UniProtKB:B3DHF2 | InterPro | 1107 | ||||||||||
| UniProtKB:F1QWF7 | InterPro | 1103 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
gucy2f-201
(1)
|
Ensembl | 6,241 nt | ||
| mRNA |
gucy2f-202
(1)
|
Ensembl | 4,614 nt |
Interactions and Pathways
No data available
Plasmids
No data available