PDE6A (phosphodiesterase 6A)

2014-11-01 Affiliation

Identity

HGNC

PDE6A

LOCATION

5q32

LOCUSID

5145

ALIAS

CGPR-A,PDEA,RP43

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: 5145
MIM: 180071
HGNC: 8785
Ensembl: ENSG00000132915

Variants:

dbSNP: 5145
ClinVar: 5145
TCGA: ENSG00000132915
COSMIC: PDE6A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000132915	ENST00000255266	P16499
ENSG00000132915	ENST00000613228	F1T0K3
ENSG00000132915	ENST00000617647	F1T0K3

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
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20940301	2010	Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent.	31
15001570	2004	Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity.	26
18723146	2008	A novel mutation and phenotypes in phosphodiesterase 6 deficiency.	24
20591486	2010	Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.	22
20110084	2010	Failure to replicate genetic associations with antidepressant treatment response in duloxetine-treated patients.	15
17110911	2006	Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.	13
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
20801516	2011	Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.	11
21039428	2010	Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model.	8

Citation

Dessen P

PDE6A (phosphodiesterase 6A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71794/pde6a