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
External IDs	MGI: 105123 HomoloGene: 55442 GeneCards: GUCY2D
Gene location (Human)
Chr.	Chromosome 17 (human)[1]
End	8,020,339 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; • 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; • plasma membrane;
Biological process	• 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.

Clinical significance

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

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000132518 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020890 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ "Entrez Gene: Guanylate cyclase 2D, membrane (retina-specific)".
↑ 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] 1 2 3 GRCh38: Ensembl release 89: ENSG00000132518 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020890 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

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

[pmid8944027-6] 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.