Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
8654
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Phosphodiesterase 5A |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
PDE5A |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CGB-PDE, CN5A, PDE5 |
Chromosome
Chromosome number
|
4 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
4q26 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5`-GMP. It is involved in the regulation of intracellular concentrations |
UniProt ID |
O76074
|
Protein name |
cGMP-specific 3',5'-cyclic phosphodiesterase (EC 3.1.4.35) (cGMP-binding cGMP-specific phosphodiesterase) (CGB-PDE) |
Protein function |
Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This phosphodiesterase catalyzes the specific hydrolysis of cGMP to 5'-GMP (PubMed:15489334, PubMed:9714779). Specifically regulates nitric- |
PDB |
1RKP
,
1T9R
,
1T9S
,
1TBF
,
1UDT
,
1UDU
,
1UHO
,
1XOZ
,
1XP0
,
2CHM
,
2H40
,
2H42
,
2H44
,
2XSS
,
3B2R
,
3BJC
,
3HC8
,
3HDZ
,
3JWQ
,
3JWR
,
3LFV
,
3MF0
,
3SHY
,
3SHZ
,
3SIE
,
3TGE
,
3TGG
,
4G2W
,
4G2Y
,
4I9Z
,
4IA0
,
4MD6
,
4OEW
,
4OEX
,
5JO3
,
5ZZ2
,
6ACB
,
6IWI
,
6L6E
,
6VBI
,
7FAQ
,
7FAR
,
8W4S
,
8W4T
,
8WKF
,
8WKG
,
8XWW
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01590
|
GAF |
164 → 314 |
GAF domain |
Domain |
PF01590
|
GAF |
346 → 503 |
GAF domain |
Domain |
PF00233
|
PDEase_I |
612 → 847 |
|
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed in aortic smooth muscle cells, heart, placenta, skeletal muscle and pancreas and, to a much lesser extent, in brain, liver and lung. |
Sequence |
|
Sequence length |
875 |
Interactions |
View interactions
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Endometriosis |
Endometriosis |
|
|
GWAS |
Bipolar Disorder |
Bipolar Disorder |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Associate
|
31433119 |
Aortic Aneurysm Thoracic |
Inhibit
|
31434939 |
Aortic Dissection |
Associate
|
31434939 |
Breast Neoplasms |
Associate
|
21505183 |
Cardiomyopathies |
Stimulate
|
22135403 |
Cardiomyopathy Dilated |
Associate
|
22135403 |
Cerebrovascular Disorders |
Associate
|
25247292 |
Colonic Neoplasms |
Associate
|
22556201, 26299804, 38179743 |
Colorectal Neoplasms |
Associate
|
22556201 |
Diabetes Mellitus |
Associate
|
21297971 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
25103559 |
Epstein Barr Virus Infections |
Associate
|
33741394 |
Erectile Dysfunction |
Associate
|
16735511, 23916810, 31433119, 36401440, 38086555 |
Erectile Dysfunction |
Inhibit
|
22578167 |
Familial Primary Pulmonary Hypertension |
Stimulate
|
16980375 |
Familial Primary Pulmonary Hypertension |
Associate
|
34981661 |
Glioblastoma |
Associate
|
25103559, 28099939, 37175205 |
Glioma |
Associate
|
25103559 |
Headache |
Associate
|
25247292 |
Heart Failure |
Associate
|
27427220 |
Heart Murmurs |
Associate
|
38086555 |
Hypertension Pulmonary |
Associate
|
16735511, 18591337 |
Hypertension Pulmonary |
Stimulate
|
16980375 |
Hypertension Pulmonary |
Inhibit
|
22578167 |
Hypertrophy Right Ventricular |
Associate
|
18591337 |
Leukemia Myeloid Acute |
Associate
|
23916810 |
Marfan Syndrome |
Inhibit
|
31434939 |
Melanoma |
Associate
|
23381931, 24710960, 27299522 |
Migraine Disorders |
Associate
|
25247292 |
Mitochondrial Diseases |
Associate
|
33087445 |
Neoplasms |
Associate
|
27927168, 28099939, 31917403, 35764701, 37280069, 38179743 |
Neuroblastoma |
Associate
|
25247292 |
Prostatic Hyperplasia |
Associate
|
31433119 |
Prostatic Neoplasms |
Associate
|
28700469, 31433119 |
Pulmonary Arterial Hypertension |
Associate
|
18591337 |
Renal Insufficiency |
Associate
|
22135403 |
Thyroid Cancer Papillary |
Associate
|
36217175 |
|