|
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
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Bipolar Disorder |
Bipolar disorder |
N/A |
N/A |
GWAS |
| Endometriosis |
Endometriosis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| 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 |
|