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GUCY2D
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; OMA:GUCY2D - orthologs
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1AWL
Enzyme activity
Gene location (Human)
Chr.	Chromosome 17 (human)
End	8,020,342 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	69,127,862 bp
RNA expression pattern
	Top expressed in
	mucosa of esophagus; ; white blood cell; ; monocyte; ; minor salivary glands; ; granulocyte; ; vagina; ; right lung; ; lymph node; ; prostate; ; primary visual cortex;
	Top expressed in
	neural layer of retina; ; secondary oocyte; ; zygote; ; morula; ; embryo; ; primary oocyte; ; dentate gyrus of hippocampal formation granule cell; ; outer nuclear layer; ; primary visual cortex; ; blastocyst;
	More reference expression data
	n/a
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.

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]

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:". 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 (8): 3571–3575. Bibcode:1995PNAS...92.3571F. 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 (9): e884. Bibcode:2007PLoSO...2..884Y. CiteSeerX 10.1.1.276.5317. doi:10.1371/journal.pone.0000884. PMC 1964805. PMID 17849013. S2CID 52800966.
↑ Kuhn, M (2009). "Function and dysfunction of mammalian membrane guanylyl cyclase receptors: lessons from genetic mouse models and implications for human diseases". CGMP: Generators, Effectors and Therapeutic Implications. Handbook of Experimental Pharmacology. Vol. 191. pp. 47–69. doi:10.1007/978-3-540-68964-5_4. ISBN 978-3-540-68960-7. PMID 19089325.
↑ 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. S2CID 21269014.

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

[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:". 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 (8): 3571–3575. Bibcode:1995PNAS...92.3571F. 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 (9): e884. Bibcode:2007PLoSO...2..884Y. CiteSeerX 10.1.1.276.5317. doi:10.1371/journal.pone.0000884. PMC 1964805. PMID 17849013. S2CID 52800966.

[8] Kuhn, M (2009). "Function and dysfunction of mammalian membrane guanylyl cyclase receptors: lessons from genetic mouse models and implications for human diseases". CGMP: Generators, Effectors and Therapeutic Implications. Handbook of Experimental Pharmacology. Vol. 191. pp. 47–69. doi:10.1007/978-3-540-68964-5_4. ISBN 978-3-540-68960-7. PMID 19089325.

[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. S2CID 21269014.

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Function

Clinical significance

References