PDE6C (phosphodiesterase 6C)

2014-11-01 Affiliation

Identity

HGNC

PDE6C

LOCATION

10q23.33

LOCUSID

5146

ALIAS

ACHM5,COD4,PDEA2

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: 5146
MIM: 600827
HGNC: 8787
Ensembl: ENSG00000095464

Variants:

dbSNP: 5146
ClinVar: 5146
TCGA: ENSG00000095464
COSMIC: PDE6C

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000095464	ENST00000371447	P51160

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

References

Pubmed ID	Year	Title	Citations
20351714	2011	Poor replication of candidate genes for major depressive disorder using genome-wide association data.	92
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
19615668	2009	Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.	66
19887631	2009	A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.	66
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
19801642	2009	Characterization of human cone phosphodiesterase-6 ectopically expressed in Xenopus laevis rods.	21
21127010	2011	Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.	15
26085644	2015	Exchange of Cone for Rod Phosphodiesterase 6 Catalytic Subunits in Rod Photoreceptors Mimics in Part Features of Light Adaptation.	14
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
23033484	2012	Identification of amino acid residues responsible for the selectivity of tadalafil binding to two closely related phosphodiesterases, PDE5 and PDE6.	8

Citation

Dessen P

PDE6C (phosphodiesterase 6C)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71796/pde6c