Gene
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
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs794726864 C>A,G Pathogenic Missense variant, coding sequence variant
rs794726865 A>G Pathogenic Missense variant, coding sequence variant
rs794726866 G>A Pathogenic Missense variant, coding sequence variant
rs794726867 C>T Pathogenic Missense variant, coding sequence variant
rs794726868 G>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001528 hsa-miR-155-5p pSILAC 18668040
MIRT001528 hsa-miR-155-5p Proteomics;Other 18668040
MIRT022078 hsa-miR-128-3p Microarray 17612493
MIRT054450 hsa-miR-211-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 24039954
MIRT722781 hsa-miR-8066 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001556 Process Oocyte maturation IEA
GO:0001556 Process Oocyte maturation IEA
GO:0004114 Function 3',5'-cyclic-nucleotide phosphodiesterase activity IDA 27975297
GO:0004114 Function 3',5'-cyclic-nucleotide phosphodiesterase activity IEA
GO:0004115 Function 3',5'-cyclic-AMP phosphodiesterase activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
123805 8778 ENSG00000172572
Protein
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
MAVPGDAARVRDKPVHSGVSQAPTAGRDCHHRADPASPRDSGCRGCWGDLVLQPLRSSRK
LSSALCAGSLSFLLALLVRLVRGEVGCDLEQCKEAAAAEEEEAAPGAEGGVFPGPRGGAP
GGGARLSPWLQPSALLFSLLCAFFWMGLYLLRAGVRLPLAVALLAACCGGEALVQIGLGV
GEDHLLSLPAAGVVLSCLAAATWLVLRLRLGVLMIALTSAVRTVSLISLERFKVAWRPYL
AYLAGVLGILLARYVEQILPQSAEAAPREHLGSQLIAGTKEDIPVFKRRRRSSSVVSAEM
SGCSSKSHRRTSLPCIPREQLMGHSEWDHKRGPRGSQSSGTSITVDIAVMGEAHGLITDL
LADPSLPPNVCTSLRAVSNLLSTQLTFQAIHKPRVNPVTSLSENYTCSDSEESSEKDKLA
IPKRLRRSLPPGLLRRVSSTWTTTTSATGLPTLEPAPVRRDRSTSIKLQEAPSSSPDSWN
NPVMMTLTKSRSFTSSYAISAANHVKAKKQSRPGALAKISPLSSPCSSPLQGTPASSLVS
KISAVQFPESADTTAKQSLGSHRALTYTQSAPDLSPQILTPPVICSSCGRPYSQGNPADE
PLERSGVATRTPSRTDDTAQVTSDYETNNNSDSSDIVQNEDETECLREPLRKASACSTYA
PETMMFLDKPILAPEPLVMDNLDSIMEQLNTWNFPIFDLVENIGRKCGRILSQVSYRLFE
DMGLFEAFKIPIREFMNYFHALEIGYRDIPYHNRIHATDVLHAVWYLTTQPIPGLSTVIN
DHGSTSDSDSDSGFTHGHMGYVFSKTYNVTDDKYGCLSGNIPALELMALYVAAAMHDYDH
PGRTNAFLVATSAPQAVLYNDRSVLENHHAAAAWNLFMSRPEYNFLINLDHVEFKHFRFL
VIEAILATDLKKHFDFVAKFNGKVNDDVGIDWTNENDRLLVCQMCIKLADINGPAKCKEL
HLQWTDGIVNEFYEQGDEEASLGLPISPFMDRSAPQLANLQESFISHIVGPLCNSYDSAG
LM
PGKWVEDSDESGDTDDPEEEEEEAPAPNEEETCENNESPKKKTFKRRKIYCQITQHLL
QNHKMWKKVIEEEQRLAGIENQSLDQTPQSHSSEQIQAIKEEEEEKGKPRGEEIPTQKPD
Q
Sequence length 1141
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Purine metabolism
Metabolic pathways
cGMP-PKG signaling pathway
cAMP signaling pathway
Renin secretion
Morphine addiction
  G alpha (s) signalling events
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Brachydactyly-arterial hypertension syndrome brachydactyly-arterial hypertension syndrome rs794726864, rs794726865, rs794726866, rs794726867, rs794726868, rs1592115698 N/A
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
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Astrocytoma Astrocytoma N/A N/A GWAS
Diabetes Type 2 diabetes, Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy) N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
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