GUCY2D (guanylate cyclase 2D, retinal)

2006-10-01 Affiliation

Identity

HGNC

GUCY2D

LOCATION

17p13.1

LOCUSID

3000

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Purine metabolism	KEGG	ko00230
Olfactory transduction	KEGG	ko04740
Purine metabolism	KEGG	hsa00230
Olfactory transduction	KEGG	hsa04740
Phototransduction	KEGG	ko04744
Phototransduction	KEGG	hsa04744
Signal Transduction	REACTOME	R-HSA-162582
Visual phototransduction	REACTOME	R-HSA-2187338
The phototransduction cascade	REACTOME	R-HSA-2514856
Inactivation, recovery and regulation of the phototransduction cascade	REACTOME	R-HSA-2514859

References

Pubmed ID	Year	Title	Citations
17724218	2007	Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.	60
17724218	2007	Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.	60
20201926	2010	Human variation in alcohol response is influenced by variation in neuronal signaling genes.	45
23035049	2013	Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.	43
19959640	2010	Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.	40
16505055	2006	Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.	38
17651254	2007	Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.	37
16272259	2005	Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.	33
21671801	2011	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.	31
18487367	2008	Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.	30

Citation

Dessen P

GUCY2D (guanylate cyclase 2D, retinal)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43304/gucy2d