Gucy2e Gene Summary [Mouse]
Enables guanylate cyclase activity. Involved in cGMP biosynthetic process. Located in photoreceptor outer segment membrane. Is expressed in dorsal root ganglion; retina outer nuclear layer; and spinal cord. Used to study Leber congenital amaurosis 1 and cone-rod dystrophy 6. 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). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Gucy2e |
| Official Name | guanylate cyclase 2e [Source:MGI Symbol;Acc:MGI:105123] |
| Ensembl ID | ENSMUSG00000020890 |
| Bio databases IDs | |
| Aliases | guanylate cyclase 2e |
| Synonyms | BC020186, CACD, CACD1, CG-E, CORD5, CORD6, CSNB1I, CYGD, GC1, GC-E, guanylate cyclase 2D, retinal, guanylate cyclase 2e, GUC1A4, GUC2D, Gucy2e, LCA, LCA1, RCD2, retGC, RETGC-1, ROSGC, ROS-GC1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Gucy2e often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- Receptor family ligand binding region
- dimerization domain
- signaling receptor activity
- catalytic domain
- Protein tyrosine and serine/threonine kinase
- coiled-coil domain
- protein binding
- protein-tyrosine kinase
- identical protein binding
- kinase
- Serine/Threonine protein kinases, catalytic domain
- binding protein
- Protein Kinases, catalytic domain
- Type 1 periplasmic binding fold superfamily
- guanylate cyclase
- protein homodimerization
- Class III nucleotidyl cyclases
- Adenylyl- / guanylyl cyclase, catalytic domain
Pathways
Biological processes and signaling networks where the Gucy2e gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal dystrophy
- Leber congenital amaurosis type 1
- GUCY2D-related recessive retinopathy
- autosomal recessive optic atrophy
- retinitis pigmentosa
- cone-rod dystrophy
- congenital stationary night blindness type 1I
- central areolar choroidal dystrophy type 1
- cone-rod dystrophy 6
- hereditary disorder
role in cell
- apoptosis
- activation
- activation in
- binding in
- quantity
- electrophysiology
- number
- abnormal morphology
- density
- morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- cellular membrane
- endoplasmic reticulum membrane
- outer nuclear membrane
- photoreceptor outer segments
- perikaryon
- rod outer segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Gucy2e gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cGMP biosynthetic process
- cGMP-mediated signaling
- receptor guanylyl cyclase signaling pathway
- visual perception
- regulation of rhodopsin mediated signaling pathway
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nuclear outer membrane
- photoreceptor outer segment membrane
- plasma membrane
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- GTP binding
- peptide receptor activity
- ATP binding
- protein binding
- protein homodimerization activity
- signaling receptor activity
- guanylate cyclase activity
- protein kinase activity
- adenylate cyclase activity