GUCY2D

GUCY2D
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1AWL
Identifiers
Aliases	GUCY2D, CORD5, CORD6, CYGD, GUC1A4, GUC2D, LCA, LCA1, RCD2, RETGC-1, ROS-GC1, ROSGC, retGC, guanylate cyclase 2D, retinal, CACD1, CSNB1I, CG-E
External IDs	OMIM: 600179 MGI: 105123 HomoloGene: 55442 GeneCards: GUCY2D
Gene location (Human)
Chr.	Chromosome 17 (human)[1]
End	8,020,342 bp[1]
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)[2]
End	69,237,036 bp[2]
Gene ontology
Molecular function	• protein kinase activity; • nucleotide binding; • GTP binding; • GO:0001948 protein binding; • lyase activity; • phosphorus-oxygen lyase activity; • ATP binding; • guanylate cyclase activity; • signaling receptor activity; • adenylate cyclase activity; • peptide receptor activity;
Cellular component	• integral component of membrane; • membrane; • integral component of plasma membrane; • photoreceptor disc membrane; • guanylate cyclase complex, soluble; • nuclear outer membrane; • cell membrane;
Biological process	• GO:0007243 intracellular signal transduction; • response to stimulus; • regulation of rhodopsin mediated signaling pathway; • cyclic nucleotide biosynthetic process; • receptor guanylyl cyclase signaling pathway; • protein phosphorylation; • visual perception; • cGMP biosynthetic process; • signal transduction;
	Sources:Amigo / QuickGO
Orthologs
	3000
	14919
	ENSG00000132518
	ENSMUSG00000020890
	Q02846
	P52785
	NM_000180
	NM_008192
	NP_000171
	NP_032218
	Wikidata
View/Edit Human	View/Edit Mouse

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.[5]

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.

The nomenclature for members of the Gucy2 gene family is not consistent across species. In many mammals, including mice and rats, the Gucy2d gene encodes a related protein – GC-D – that is specifically expressed in a subpopulation of olfactory sensory neurons[6]. This gene is a pseudogene in humans and most other primates[7]. In rodents, the corresponding (orthologous) gene to human GUCY2D is Gucy2e[8].

Clinical significance

Mutations in this gene result in Leber's congenital amaurosis and cone-rod dystrophy-6 diseases.[9]

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References

GRCh38: Ensembl release 89: ENSG00000132518 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000020890 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: Guanylate cyclase 2D, membrane (retina-specific)".
Fulle, HJ (1995). "A receptor guanylyl cyclase expressed specifically in olfactory sensory neurons". Proc Natl Acad Sci USA. 92: 3571–3575. doi:10.1073/pnas.92.8.3571. PMC 42209. PMID 7724600.
Young, JM (2007). "Degeneration of the olfactory guanylyl cyclase D gene during primate evolution". PLoS ONE. 2: e884. CiteSeerX 10.1.1.276.5317. doi:10.1371/journal.pone.0000884.
Kuhn, M (2009). "Function and dysfunction of mammalian membrane guanylyl cyclase receptors: lessons from genetic mouse models and implications for human diseases". Handb Exp Pharmacol. 191: 47–69.
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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000132518 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020890 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Guanylate cyclase 2D, membrane (retina-specific)".

[6] Fulle, HJ (1995). "A receptor guanylyl cyclase expressed specifically in olfactory sensory neurons". Proc Natl Acad Sci USA. 92: 3571–3575. doi:10.1073/pnas.92.8.3571. PMC 42209. PMID 7724600.

[7] Young, JM (2007). "Degeneration of the olfactory guanylyl cyclase D gene during primate evolution". PLoS ONE. 2: e884. CiteSeerX 10.1.1.276.5317. doi:10.1371/journal.pone.0000884.

[8] Kuhn, M (2009). "Function and dysfunction of mammalian membrane guanylyl cyclase receptors: lessons from genetic mouse models and implications for human diseases". Handb Exp Pharmacol. 191: 47–69.

[pmid8944027-9] 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.