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PDE3A (phosphodiesterase 3A)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5139
Gene nameGene Name - the full gene name approved by the HGNC.
Phosphodiesterase 3A
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PDE3A
SynonymsGene synonyms aliases
CGI-PDE, CGI-PDE A, CGI-PDE-A, HTNB
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p12.2
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0001556 Process Oocyte maturation IBA 21873635
GO:0004114 Function 3',5'-cyclic-nucleotide phosphodiesterase activity IBA 21873635
GO:0004115 Function 3',5'-cyclic-AMP phosphodiesterase activity IBA 21873635
GO:0004119 Function CGMP-inhibited cyclic-nucleotide phosphodiesterase activity TAS 9173884
GO:0005515 Function Protein binding IPI 19332778
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
LMPGKWVEDSDESGDTDDPEEEEEEAPAPNEEETCENNESPKKKTFKRRKIYCQITQHLL
QNHKMWKKVIEEEQRLAGIENQSLDQTPQSHSSEQIQAIKEEEEEKGKPRGEEIPTQKPD
Q
Sequence length 1141
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Purine metabolism
Metabolic pathways
cGMP-PKG signaling pathway
cAMP signaling pathway
Renin secretion
Morphine addiction 		  G alpha (s) signalling events
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term 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
Brachydactyly-arterial hypertension syndrome Brachydactyly with hypertension, Brachydactyly-arterial hypertension syndrome rs794726864, rs794726865, rs794726866, rs794726867, rs794726868, rs1592115698 25961942, 9696728
Hypertension Hypertensive disease rs13306026, rs13333226
Myocardial infarction Myocardial Infarction rs12316150, rs41303970, rs909253, rs7291467, rs2234693 19027736
Unknown
Disease name Disease term dbSNP ID References
Diabetic nephropathy Diabetic Nephropathy 21150874
Dwarfism Dwarfism
Ischemic stroke Ischemic stroke rs6025, rs1799963, rs1799983 29531354
Stroke Cerebrovascular accident, Acute Cerebrovascular Accidents 29531354

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