GUCY2D
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGUCY2D, CORD5, CORD6, CYGD, GUC1A4, GUC2D, LCA, LCA1, RCD2, RETGC-1, ROS-GC1, ROSGC, retGC, guanylate cyclase 2D, retinal, CACD1, CSNB1I, CG-E
External IDsOMIM: 600179 MGI: 105123 HomoloGene: 55442 GeneCards: GUCY2D
Orthologs
SpeciesHumanMouse
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 MbChr 11: 69.11 – 69.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000132518 - Ensembl, May 2017
  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.
  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.


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