GUCY2EP
MCID: GNY003
MIFTS: 12

Guanylate Cyclase 2e, Pseudogene (GUCY2EP)

Aliases & Classifications for Guanylate Cyclase 2e, Pseudogene

MalaCards integrated aliases for Guanylate Cyclase 2e, Pseudogene:

Name: Guanylate Cyclase 2e, Pseudogene 57
Guanylyl Cyclase, Membrane, Type E 57
Gucy2d, Mouse, Homolog of 57
Gucy2ep 57
Gucy2e 57
Gc-E 57

External Ids:

OMIM® 57 601138

Summaries for Guanylate Cyclase 2e, Pseudogene

MalaCards based summary : Guanylate Cyclase 2e, Pseudogene, also known as guanylyl cyclase, membrane, type e, is related to leber congenital amaurosis 1 and leber plus disease. An important gene associated with Guanylate Cyclase 2e, Pseudogene is GUCY2EP (Guanylate Cyclase 2E, Pseudogene). Affiliated tissues include retina.

More information from OMIM: 601138

Related Diseases for Guanylate Cyclase 2e, Pseudogene

Diseases related to Guanylate Cyclase 2e, Pseudogene via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 1 9.9
2 leber plus disease 9.9
3 night blindness, congenital stationary, type1i 9.8
4 retinal disease 9.8

Symptoms & Phenotypes for Guanylate Cyclase 2e, Pseudogene

Clinical features from OMIM®:

601138 (Updated 05-Apr-2021)

Drugs & Therapeutics for Guanylate Cyclase 2e, Pseudogene

Search Clinical Trials , NIH Clinical Center for Guanylate Cyclase 2e, Pseudogene

Genetic Tests for Guanylate Cyclase 2e, Pseudogene

Anatomical Context for Guanylate Cyclase 2e, Pseudogene

MalaCards organs/tissues related to Guanylate Cyclase 2e, Pseudogene:

40
Retina

Publications for Guanylate Cyclase 2e, Pseudogene

Articles related to Guanylate Cyclase 2e, Pseudogene:

(show all 16)
# Title Authors PMID Year
1
Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina. 57 61
8838319 1996
2
A receptor guanylyl cyclase expressed specifically in olfactory sensory neurons. 57
7724600 1995
3
Guanylyl cyclase receptors. 57
7982997 1994
4
Gene-methylation epistatic analyses via the W-test identifies enriched signals of neuronal genes in patients undergoing lipid-control treatment. 61
30263051 2018
5
Functional study of two biochemically unusual mutations in GUCY2D Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinas. 61
27881908 2016
6
Gene Therapy Fully Restores Vision to the All-Cone Nrl(-/-) Gucy2e(-/-) Mouse Model of Leber Congenital Amaurosis-1. 61
26247368 2015
7
cGMP accumulation causes photoreceptor degeneration in CNG channel deficiency: evidence of cGMP cytotoxicity independently of enhanced CNG channel function. 61
24027293 2013
8
AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis. 61
23210611 2013
9
Targeting of mouse guanylate cyclase 1 (Gucy2e) to Xenopus laevis rod outer segments. 61
21945483 2011
10
Lentivirus-mediated expression of cDNA and shRNA slows degeneration in retinitis pigmentosa. 61
21885480 2011
11
Long-term preservation of cones and improvement in visual function following gene therapy in a mouse model of leber congenital amaurosis caused by guanylate cyclase-1 deficiency. 61
21671801 2011
12
shRNA knockdown of guanylate cyclase 2e or cyclic nucleotide gated channel alpha 1 increases photoreceptor survival in a cGMP phosphodiesterase mouse model of retinitis pigmentosa. 61
20950332 2011
13
Enzymatic properties and regulation of the native isozymes of retinal membrane guanylyl cyclase (RetGC) from mouse photoreceptors. 61
21598940 2011
14
Cone and rod photoreceptor transplantation in models of the childhood retinopathy Leber congenital amaurosis using flow-sorted Crx-positive donor cells. 61
20858907 2010
15
Photoreceptor IFT complexes containing chaperones, guanylyl cyclase 1 and rhodopsin. 61
19302411 2009
16
A model for transport of membrane-associated phototransduction polypeptides in rod and cone photoreceptor inner segments. 61
17949773 2008

Variations for Guanylate Cyclase 2e, Pseudogene

Expression for Guanylate Cyclase 2e, Pseudogene

Search GEO for disease gene expression data for Guanylate Cyclase 2e, Pseudogene.

Pathways for Guanylate Cyclase 2e, Pseudogene

GO Terms for Guanylate Cyclase 2e, Pseudogene

Sources for Guanylate Cyclase 2e, Pseudogene

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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