Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5139
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Phosphodiesterase 3A |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
PDE3A |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CGI-PDE, CGI-PDE A, CGI-PDE-A, HTNB |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
HTNB |
Chromosome
Chromosome number
|
12 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
12p12.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellul |
UniProt ID |
Q14432
|
Protein name |
cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A (EC 3.1.4.17) (Cyclic GMP-inhibited phosphodiesterase A) (CGI-PDE A) (cGMP-inhibited cAMP phosphodiesterase) (cGI-PDE) |
Protein function |
Cyclic nucleotide phosphodiesterase with specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:1315035, PubMed:25961942, PubMed:8155697, PubMed:8695850). Also has activity |
PDB |
7EG0
,
7EG1
,
7EG4
,
7KWE
,
7L27
,
7L28
,
7L29
,
7LRC
,
7LRD
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00233
|
PDEase_I |
793 → 1022 |
|
Domain |
|
Sequence |
|
Sequence length |
1141 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Brachydactyly |
Brachydactyly |
rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142 View all (22 more) |
|
Brachydactyly-arterial hypertension syndrome |
Brachydactyly with hypertension, Brachydactyly-arterial hypertension syndrome |
rs794726864, rs794726865, rs794726866, rs794726867, rs794726868, rs1592115698 |
25961942, 9696728 |
Hypertension |
Hypertensive disease |
rs13306026 |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Ischemic stroke |
Ischemic stroke |
|
29531354 |
ClinVar |
Myocardial infarction |
Myocardial Infarction |
|
19027736 |
ClinVar |
Diabetes |
Diabetes |
|
|
GWAS |
Ischemic Stroke |
Ischemic Stroke |
|
|
GWAS |
Lung adenocarcinoma |
Lung adenocarcinoma |
Validation that loss of Tgfbr2 results in more aggressive and T cell-excluded KP lung tumors |
|
GWAS, CBGDA |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
Alzheimer disease |
Alzheimer disease |
|
|
GWAS |
Hypogonadism |
Hypogonadism |
|
|
GWAS |
Glioblastoma |
Glioblastoma |
CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 |
|
GWAS, CBGDA |
Astrocytoma |
Astrocytoma |
|
|
GWAS |
Oligodendroglioma |
Oligodendroglioma |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Associate
|
28678321 |
Adenocarcinoma of Lung |
Associate
|
28678321 |
Brachydactyly Type E |
Associate
|
32631253 |
Carcinoma Hepatocellular |
Associate
|
29425759 |
Carcinoma Non Small Cell Lung |
Associate
|
28678321, 35256890 |
Cardiomyopathy Dilated |
Associate
|
26095046 |
Cerebral Hemorrhage |
Associate
|
32474671 |
Cerebral Infarction |
Associate
|
31865795 |
Cerebrovascular Disorders |
Associate
|
32474671 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
26656089 |
Fatty Liver Alcoholic |
Inhibit
|
29425759 |
Glaucoma |
Associate
|
33114701 |
Graves Ophthalmopathy |
Associate
|
37884559 |
Heart Failure |
Associate
|
30871701 |
Hypertension |
Associate
|
32631253 |
Hypertension Pulmonary |
Associate
|
32914566 |
Idiopathic Hypogonadotropic Hypogonadism |
Associate
|
33208564 |
Infertility Male |
Associate
|
27232852 |
Intrahepatic Cholestasis of Pregnancy |
Inhibit
|
37054625 |
Neoplasms |
Associate
|
26656089, 27927168, 32005668 |
Persistent Fetal Circulation Syndrome |
Associate
|
34678164 |
Stroke |
Associate
|
31865795 |
|