GUCY2D

Guanylate cyclase 2D, membrane (retina-specific)
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1AWL​
Identifiers
Symbols	GUCY2D ; CORD5; CORD6; CYGD; GUC1A4; GUC2D; LCA; LCA1; RCD2; RETGC-1; ROS-GC1; ROSGC; retGC
External IDs	OMIM: 600179 HomoloGene: 55442 GeneCards: GUCY2D Gene
EC number	4.6.1.2
Gene ontology Molecular function • guanylate cyclase activity • protein kinase activity • receptor activity • ATP binding • GTP binding Cellular component • nuclear outer membrane • integral component of plasma membrane • photoreceptor disc membrane Biological process • cGMP biosynthetic process • protein phosphorylation • receptor guanylyl cyclase signaling pathway • visual perception • phototransduction, visible light • rhodopsin mediated signaling pathway • regulation of rhodopsin mediated signaling pathway • intracellular signal transduction Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	3000	14919
Ensembl	ENSG00000132518	ENSMUSG00000020890
UniProt	Q02846	P52785
RefSeq (mRNA)	NM_000180	NM_008192
RefSeq (protein)	NP_000171	NP_032218
Location (UCSC)	Chr 17: 8 – 8.02 Mb	Chr 11: 69.22 – 69.24 Mb
PubMed search

Retinal guanylyl cyclase 1 also known as guanylate cyclase 2D, retinal is an enzyme that in humans is encoded by the GUCY2D (guanylate cyclase 2D) gene.^[1]

Function

This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides.

Clinical significance

Mutations in this gene result in Leber's congenital amaurosis and cone-rod dystrophy-6 diseases.^[2]

References

1. "Entrez Gene: Guanylate cyclase 2D, membrane (retina-specific)".
2. Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, Dollfus H, Châtelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, Frézal J, Dufier JL, Pittler S, Munnich A, Kaplan J (December 1996). "Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis". Nat. Genet. 14 (4): 461–4. doi:10.1038/ng1296-461. PMID 8944027.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.