Identity
HGNC
LOCATION
17p13.1
LOCUSID
ALIAS
CACD1,CG-E,CORD5,CORD6,CSNB1I,CYGD,GUC1A4,GUC2D,LCA,LCA1,RCD2,RETGC-1,ROS-GC1,ROSGC,retGC
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3000
MIM: 600179
HGNC: 4689
Ensembl: ENSG00000132518
Variants:
dbSNP: 3000
ClinVar: 3000
TCGA: ENSG00000132518
COSMIC: GUCY2D
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000132518 | ENST00000254854 | Q02846 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36509996 | 2023 | Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred. | 0 |
| 37327959 | 2023 | Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies. | 2 |
| 37775646 | 2023 | A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy. | 0 |
| 36509996 | 2023 | Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred. | 0 |
| 37327959 | 2023 | Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies. | 2 |
| 37775646 | 2023 | A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy. | 0 |
| 36490268 | 2022 | The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment. | 26 |
| 36490268 | 2022 | The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment. | 26 |
| 33670772 | 2021 | Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function. | 5 |
| 34048777 | 2021 | Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation. | 3 |
| 34470921 | 2021 | Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis. | 1 |
| 34537244 | 2021 | Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase. | 4 |
| 33670772 | 2021 | Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function. | 5 |
| 34048777 | 2021 | Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation. | 3 |
| 34470921 | 2021 | Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis. | 1 |
Citation
Dessen P
GUCY2D (guanylate cyclase 2D, retinal)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43304/gucy2d
