PDE6G (phosphodiesterase 6G)

2007-12-01 Affiliation

Identity

HGNC

PDE6G

LOCATION

17q25.3

LOCUSID

5148

ALIAS

PDEG,RP57

FUSION GENES

Show Gene Fusions

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: 5148
MIM: 180073
HGNC: 8789
Ensembl: ENSG00000185527

Variants:

dbSNP: 5148
ClinVar: 5148
TCGA: ENSG00000185527
COSMIC: PDE6G

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000185527	ENST00000331056	P18545
ENSG00000185527	ENST00000571004	P18545
ENSG00000185527	ENST00000571224	P18545

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
Purine metabolism	KEGG	hsa00230
Phototransduction	KEGG	ko04744
Phototransduction	KEGG	hsa04744
Signal Transduction	REACTOME	R-HSA-162582
Signaling by Wnt	REACTOME	R-HSA-195721
Beta-catenin independent WNT signaling	REACTOME	R-HSA-3858494
Ca2+ pathway	REACTOME	R-HSA-4086398
Visual phototransduction	REACTOME	R-HSA-2187338
The phototransduction cascade	REACTOME	R-HSA-2514856
Activation of the phototransduction cascade	REACTOME	R-HSA-2485179
Inactivation, recovery and regulation of the phototransduction cascade	REACTOME	R-HSA-2514859

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20397626	2010	Determinants for phosphodiesterase 6 inhibition by its gamma-subunit.	7
20655036	2010	Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.	47
20979602	2010	Phosphodiesterase 6 subunits are expressed and altered in idiopathic pulmonary fibrosis.	10
20397626	2010	Determinants for phosphodiesterase 6 inhibition by its gamma-subunit.	7
20655036	2010	Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.	47
20979602	2010	Phosphodiesterase 6 subunits are expressed and altered in idiopathic pulmonary fibrosis.	10
19798052	2009	Structural basis of phosphodiesterase 6 inhibition by the C-terminal region of the gamma-subunit.	42
19798052	2009	Structural basis of phosphodiesterase 6 inhibition by the C-terminal region of the gamma-subunit.	42
12624098	2003	The inhibitory gamma subunit of the type 6 retinal cGMP phosphodiesterase functions to link c-Src and G-protein-coupled receptor kinase 2 in a signaling unit that regulates p42/p44 mitogen-activated protein kinase by epidermal growth factor.	14
12624098	2003	The inhibitory gamma subunit of the type 6 retinal cGMP phosphodiesterase functions to link c-Src and G-protein-coupled receptor kinase 2 in a signaling unit that regulates p42/p44 mitogen-activated protein kinase by epidermal growth factor.	14

Citation

Dessen P

PDE6G (phosphodiesterase 6G)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49914