PDE9A (phosphodiesterase 9A)

2013-04-01  

Identity

HGNC
PDE9A
LOCATION
21q22.3
LOCUSID
5152
ALIAS
HSPDE9A2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5152
MIM: 602973
HGNC: 8795
Ensembl: ENSG00000160191

Variants:

dbSNP: 5152
ClinVar: 5152
TCGA: ENSG00000160191
COSMIC: PDE9A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160191ENST00000291539O76083
ENSG00000160191ENST00000291539A0A0S2Z4T6
ENSG00000160191ENST00000328862O76083
ENSG00000160191ENST00000335440O76083
ENSG00000160191ENST00000335512O76083
ENSG00000160191ENST00000335512A0A0S2Z4A3
ENSG00000160191ENST00000349112O76083
ENSG00000160191ENST00000349112A0A0S2Z475
ENSG00000160191ENST00000380328O76083
ENSG00000160191ENST00000398224O76083
ENSG00000160191ENST00000398225O76083
ENSG00000160191ENST00000398227O76083
ENSG00000160191ENST00000398229O76083
ENSG00000160191ENST00000398232O76083
ENSG00000160191ENST00000398234O76083
ENSG00000160191ENST00000398236O76083

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
Purine metabolismKEGGhsa00230
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Nitric oxide stimulates guanylate cyclaseREACTOMER-HSA-392154
cGMP effectsREACTOMER-HSA-418457

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203517142011Poor replication of candidate genes for major depressive disorder using genome-wide association data.92
257999912015Phosphodiesterase 9A controls nitric-oxide-independent cGMP and hypertrophic heart disease.82
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
170084082006Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment response.35
152109932004Crystal structure of phosphodiesterase 9 shows orientation variation of inhibitor 3-isobutyl-1-methylxanthine binding.25
223285732012Phosphodiesterase 9A regulates central cGMP and modulates responses to cholinergic and monoaminergic perturbation in vivo.20
229608602012Evaluation of PDE5 and PDE9 expression in benign and malignant breast tumors.19
125658352003Identification and distribution of different mRNA variants produced by differential splicing in the human phosphodiesterase 9A gene.14
192141422009Association study of phosphodiesterase genes in the Sequenced Treatment Alternatives to Relieve Depression sample.11
192141422009Association study of phosphodiesterase genes in the Sequenced Treatment Alternatives to Relieve Depression sample.11

Citation

Dessen P

PDE9A (phosphodiesterase 9A)

Atlas Genet Cytogenet Oncol Haematol. 2013-04-01

Online version: http://atlasgeneticsoncology.org/gene/53249/pde9a