PDE1C (phosphodiesterase 1C)

2016-10-01

Identity

HGNC

PDE1C

LOCATION

7p14.3

LOCUSID

5137

ALIAS

DFNA74,Hcam3,cam-PDE

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: 5137
MIM: 602987
HGNC: 8776
Ensembl: ENSG00000154678

Variants:

dbSNP: 5137
ClinVar: 5137
TCGA: ENSG00000154678
COSMIC: PDE1C

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000154678	ENST00000321453	Q14123
ENSG00000154678	ENST00000396182	Q14123
ENSG00000154678	ENST00000396184	Q14123
ENSG00000154678	ENST00000396189	F8W905
ENSG00000154678	ENST00000396191	Q14123
ENSG00000154678	ENST00000396193	A0A0A0MS69

Previous1Next

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
Ca-dependent events	REACTOME	R-HSA-111996
Calcium signaling pathway	KEGG	ko04020
Calcium signaling pathway	KEGG	hsa04020
Calmodulin induced events	REACTOME	R-HSA-111933
CaM pathway	REACTOME	R-HSA-111997
Cam-PDE 1 activation	REACTOME	R-HSA-111957
DAG and IP3 signaling	REACTOME	R-HSA-1489509
DAP12 interactions	REACTOME	R-HSA-2172127
DAP12 signaling	REACTOME	R-HSA-2424491
Downstream signal transduction	REACTOME	R-HSA-186763

Previous1 2 3 4Next

References

Pubmed ID	Year	Title	Citations
19240061	2009	Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.	94
20110084	2010	Failure to replicate genetic associations with antidepressant treatment response in duloxetine-treated patients.	21
20110084	2010	Failure to replicate genetic associations with antidepressant treatment response in duloxetine-treated patients.	21
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
25608528	2015	Role of cAMP-phosphodiesterase 1C signaling in regulating growth factor receptor stability, vascular smooth muscle cell growth, migration, and neointimal hyperplasia.	54
25608528	2015	Role of cAMP-phosphodiesterase 1C signaling in regulating growth factor receptor stability, vascular smooth muscle cell growth, migration, and neointimal hyperplasia.	54
25620587	2016	Cyclic nucleotide phosphodiesterase-1C (PDE1C) drives cell proliferation, migration and invasion in glioblastoma multiforme cells in vitro.	17
25620587	2016	Cyclic nucleotide phosphodiesterase-1C (PDE1C) drives cell proliferation, migration and invasion in glioblastoma multiforme cells in vitro.	17
29860631	2018	A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.	10

Previous1 2Next

Citation

Dessen P

PDE1C (phosphodiesterase 1C)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55951