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Guanylyl cyclase-E

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Target not currently curated in GtoImmuPdb

Target id: 2031

Nomenclature: Guanylyl cyclase-E

Abbreviated Name: GC-E

Family: Transmembrane guanylyl cyclases

Gene and Protein Information Click here for help
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 1 1103 17p13.1 GUCY2D guanylate cyclase 2D, retinal
Mouse 1 1108 11 42.51 cM Gucy2e guanylate cyclase 2e
Rat 1 1108 1q32 Gucy2d guanylate cyclase 2D, retinal
Previous and Unofficial Names Click here for help
cone rod dystrophy 5/6 | GUC1A4 | retGC | guanylate cyclase 2D, membrane (retina-specific) | Ret-GC-1 | guanylate cyclase 2D, retinal | Ret1-GC | guanylate cyclase 2D | Gucy2e | guanylate cyclase 2E
Database Links Click here for help
CATH/Gene3D
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Orphanet
Pharos
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Natural/Endogenous Ligands Click here for help
guanylyl cyclase-activating protein 1 {Sp: Human, Mouse, Rat}
guanylyl cyclase-activating protein 2 {Sp: Human, Mouse, Rat}
Localisation
Retinal photoreceptors
Principal function(s)
Vision/phototransduction

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Activators
Key to terms and symbols Click column headers to sort
Ligand Sp. Action Value Parameter Reference
guanylyl cyclase-activating protein 1 {Sp: Human, Mouse, Rat} Peptide Click here for species-specific activity table Ligand is endogenous in the given species Hs Activation - -
guanylyl cyclase-activating protein 2 {Sp: Human, Mouse, Rat} Peptide Click here for species-specific activity table Ligand is endogenous in the given species Hs Activation - -
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Central areolar choroidal dystrophy
Disease Ontology: DOID:9822
Orphanet: ORPHA75377
Disease:  Cone-rod dystrophy 6; CORD6
Synonyms: Cone rod dystrophy [Orphanet: ORPHA1872] [Disease Ontology: DOID:0050572]
Disease Ontology: DOID:0050572
OMIM: 601777
Orphanet: ORPHA1872
Disease:  Leber congenital amaurosis 1; LCA1
Synonyms: Amaurosis congenita of Leber
Leber congenital amaurosis [Orphanet: ORPHA65] [Disease Ontology: DOID:14791]
Disease Ontology: DOID:14791
OMIM: 204000
Orphanet: ORPHA65

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