GUCY2D

Last updated
GUCY2D
Available structures
PDB Ortholog search: PDBe RCSB
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
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 Mb Chr 11: 69.11 – 69.13 Mb
PubMed search [3] [4]
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]

Contents

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]

Related Research Articles

<span class="mw-page-title-main">Retina</span> Part of the eye

The retina is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs. The optics of the eye create a focused two-dimensional image of the visual world on the retina, which then processes that image within the retina and sends nerve impulses along the optic nerve to the visual cortex to create visual perception. The retina serves a function which is in many ways analogous to that of the film or image sensor in a camera.

<span class="mw-page-title-main">Guanylate cyclase</span> Lyase enzyme that synthesizes cGMP from GTP

Guanylate cyclase is a lyase enzyme that converts guanosine triphosphate (GTP) to cyclic guanosine monophosphate (cGMP) and pyrophosphate:

<span class="mw-page-title-main">Guanylate cyclase 2C</span>

Guanylate cyclase 2C, also known as guanylyl cyclase C (GC-C), intestinal guanylate cyclase, guanylate cyclase-C receptor, or the heat-stable enterotoxin receptor (hSTAR) is an enzyme that in humans is encoded by the GUCY2C gene.

<span class="mw-page-title-main">DLG2</span> Protein-coding gene in the species Homo sapiens

Disks large homolog 2 (DLG2) also known as channel-associated protein of synapse-110 (chapsyn-110) or postsynaptic density protein 93 (PSD-93) is a protein that in humans is encoded by the DLG2 gene.

<span class="mw-page-title-main">NPR1</span> Protein-coding gene in the species Homo sapiens

Natriuretic peptide receptor A/guanylate cyclase A , also known as NPR1, is an atrial natriuretic peptide receptor. In humans it is encoded by the NPR1 gene.

<span class="mw-page-title-main">RPE65</span> Protein-coding gene in humans

Retinal pigment epithelium-specific 65 kDa protein is a retinoid isomerohydrolase enzyme of the vertebrate visual cycle. RPE65 is expressed in the retinal pigment epithelium and is responsible for the conversion of all-trans-retinyl esters to 11-cis-retinol during phototransduction. 11-cis-retinol is then used in visual pigment regeneration in photoreceptor cells. RPE65 belongs to the carotenoid oxygenase family of enzymes.

<i>CRX</i> (gene) Protein-coding gene in the species Homo sapiens

Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.

<span class="mw-page-title-main">PDE6B</span> Protein-coding gene in the species Homo sapiens

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta is the beta subunit of the protein complex PDE6 that is encoded by the PDE6B gene. PDE6 is crucial in transmission and amplification of visual signal. The existence of this beta subunit is essential for normal PDE6 functioning. Mutations in this subunit are responsible for retinal degeneration such as retinitis pigmentosa or congenital stationary night blindness.

<span class="mw-page-title-main">CRB1</span> Protein-coding gene in the species Homo sapiens

Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.

<i>NRL</i> (gene) Protein-coding gene in the species Homo sapiens

Neural retina-specific leucine zipper protein is a protein that in humans is encoded by the NRL gene.

<span class="mw-page-title-main">CEP290</span> Protein-coding gene in the species Homo sapiens

Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.

<span class="mw-page-title-main">GUCA1A</span> Protein-coding gene in the species Homo sapiens

Guanylyl cyclase-activating protein 1 is an enzyme that in humans is encoded by the GUCA1A gene.

<span class="mw-page-title-main">AIPL1</span> Protein-coding gene in the species Homo sapiens

Aryl-hydrocarbon-interacting protein-like 1 is a protein that in humans is encoded by the AIPL1 gene.

<span class="mw-page-title-main">GUCY1B3</span> Protein-coding gene in the species Homo sapiens

Guanylate cyclase soluble subunit beta-1 is an enzyme that in humans is encoded by the GUCY1B3 gene.

<span class="mw-page-title-main">RDH12</span> Protein-coding gene in humans

Retinol dehydrogenase 12 is an enzyme that in humans is encoded by the RDH12 gene.

<span class="mw-page-title-main">GUCA1B</span> Protein-coding gene in the species Homo sapiens

Guanylyl cyclase-activating protein 2 is an enzyme that in humans is encoded by the GUCA1B gene. Alternative names:

<span class="mw-page-title-main">GUCY1A3</span> Protein-coding gene in the species Homo sapiens

Guanylate cyclase soluble subunit alpha-3 is an enzyme that in humans is encoded by the GUCY1A3 gene.

<span class="mw-page-title-main">GUCY1A2</span> Protein-coding gene in the species Homo sapiens

Guanylate cyclase soluble subunit alpha-2 is an enzyme that in humans is encoded by the GUCY1A2 gene.

<span class="mw-page-title-main">RDH8</span> Protein-coding gene in humans

Retinol dehydrogenase 8 is an enzyme that in humans is encoded by the RDH8 gene.

<span class="mw-page-title-main">GUCY2F</span> Protein-coding gene in humans

Retinal guanylyl cyclase 2 also known as guanylate cyclase F (GUCY2F) is a protein that in humans is encoded by the GUCY2F gene.

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.

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