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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; OMA:GUCY2D - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17p13.1 Start 8,002,615 bp End 8,020,342 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 B3|11 42.51 cM Start 69,108,943 bp End 69,127,862 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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: 69.11 – 69.13 Mb PubMed search
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.

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. This gene is a pseudogene in humans and most other primates. In rodents, the corresponding (orthologous) gene to human GUCY2D is Gucy2e.

Clinical significance

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

References

1. ^ GRCh38: Ensembl release 89: ENSG00000132518 – Ensembl, May 2017
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.
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.
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.

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

• Genes on human chromosome 17