PDE1C (phosphodiesterase 1C)

2016-10-01  

Identity

HGNC
PDE1C
LOCATION
7p14.3
LOCUSID
5137
ALIAS
DFNA74,Hcam3,cam-PDE
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5137
MIM: 602987
HGNC: 8776
Ensembl: ENSG00000154678

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154678ENST00000321453Q14123
ENSG00000154678ENST00000396182Q14123
ENSG00000154678ENST00000396184Q14123
ENSG00000154678ENST00000396189F8W905
ENSG00000154678ENST00000396191Q14123
ENSG00000154678ENST00000396193A0A0A0MS69

Expression (GTEx)

0
5
10
15
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

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Calcium signaling pathwayKEGGko04020
Olfactory transductionKEGGko04740
Taste transductionKEGGko04742
Purine metabolismKEGGhsa00230
Calcium signaling pathwayKEGGhsa04020
Olfactory transductionKEGGhsa04740
Taste transductionKEGGhsa04742
Morphine addictionKEGGhsa05032
Morphine addictionKEGGko05032
Renin secretionKEGGhsa04924
Renin secretionKEGGko04924
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
DAG and IP3 signalingREACTOMER-HSA-1489509
CaM pathwayREACTOMER-HSA-111997
Calmodulin induced eventsREACTOMER-HSA-111933
Cam-PDE 1 activationREACTOMER-HSA-111957
Signal TransductionREACTOMER-HSA-162582
Signaling by EGFRREACTOMER-HSA-177929
EGFR interacts with phospholipase C-gammaREACTOMER-HSA-212718
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
PLC-gamma1 signallingREACTOMER-HSA-167021
Signaling by PDGFREACTOMER-HSA-186797
Downstream signal transductionREACTOMER-HSA-186763
Signaling by GPCRREACTOMER-HSA-372790
Opioid SignallingREACTOMER-HSA-111885
G-protein mediated eventsREACTOMER-HSA-112040
PLC beta mediated eventsREACTOMER-HSA-112043
Ca-dependent eventsREACTOMER-HSA-111996

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
177260232007Cyclic nucleotide phosphodiesterase PDE1C1 in human cardiac myocytes.36
256085282015Role of cAMP-phosphodiesterase 1C signaling in regulating growth factor receptor stability, vascular smooth muscle cell growth, migration, and neointimal hyperplasia.33
164550542006Subcellular localization and regulation of type-1C and type-5 phosphodiesterases.15
201100842010Failure to replicate genetic associations with antidepressant treatment response in duloxetine-treated patients.15
256205872016Cyclic nucleotide phosphodiesterase-1C (PDE1C) drives cell proliferation, migration and invasion in glioblastoma multiforme cells in vitro.7
298606312018A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.6

Citation

Dessen P

PDE1C (phosphodiesterase 1C)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55951/pde1c