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    PDE3A phosphodiesterase 3A [ Homo sapiens (human) ]

    Gene ID: 5139, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PDE3Aprovided by HGNC
    Official Full Name
    phosphodiesterase 3Aprovided by HGNC
    Primary source
    HGNC:HGNC:8778
    See related
    Ensembl:ENSG00000172572 MIM:123805; AllianceGenome:HGNC:8778
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HTNB; CGI-PDE; CGI-PDE A; CGI-PDE-A
    Summary
    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 intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
    Expression
    Broad expression in heart (RPKM 15.7), placenta (RPKM 7.2) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PDE3A in Genome Data Viewer
    Location:
    12p12.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (20368537..20688583)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (20246943..20567173)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (20521471..20841517)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369687 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:20365835-20366575 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:20365093-20365834 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:20417295-20417859 Neighboring gene uncharacterized LOC105369688 Neighboring gene Sharpr-MPRA regulatory region 8059 Neighboring gene Sharpr-MPRA regulatory region 6259 Neighboring gene PDE3A antisense RNA 1 Neighboring gene ubiquitin conjugating enzyme E2 L2 (pseudogene) Neighboring gene Sharpr-MPRA regulatory region 11298 Neighboring gene ubiquitin like with PHD and ring finger domains 1 pseudogene Neighboring gene Sharpr-MPRA regulatory region 13494 Neighboring gene Sharpr-MPRA regulatory region 7088 Neighboring gene solute carrier organic anion transporter family member 1C1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:20915672-20916304 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:20921407-20922031 Neighboring gene SLCO1B3-SLCO1B7 readthrough Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:20974670-20975869 Neighboring gene solute carrier organic anion transporter family member 1B3 Neighboring gene putative solute carrier organic anion transporter family member 1B7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular cloning and expression of human myocardial cGMP-inhibited cAMP phosphodiesterase. Meacci E, et al. Proc Natl Acad Sci U S A, 1992 May 1. PMID 1315035, Free PMC Article
    2. Protein kinase C-mediated phosphorylation and activation of PDE3A regulate cAMP levels in human platelets. Hunter RW, et al. J Biol Chem, 2009 May 1. PMID 19261611, Free PMC Article
    3. Thrombin regulates intracellular cyclic AMP concentration in human platelets through phosphorylation/activation of phosphodiesterase 3A. Zhang W, et al. Blood, 2007 Sep 1. PMID 17392505, Free PMC Article
    4. New insights from the structure-function analysis of the catalytic region of human platelet phosphodiesterase 3A: a role for the unique 44-amino acid insert. Hung SH, et al. J Biol Chem, 2006 Sep 29. PMID 16873361
    5. Isoforms of cyclic nucleotide phosphodiesterase PDE3 and their contribution to cAMP hydrolytic activity in subcellular fractions of human myocardium. Hambleton R, et al. J Biol Chem, 2005 Nov 25. PMID 16172121

    See all (87) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ALDOA coordinates PDE3A through the beta-catenin/ID3 axis to stimulate cancer metastasis and M2 polarization in lung cancer with EGFR mutations.
      Title: ALDOA coordinates PDE3A through the β-catenin/ID3 axis to stimulate cancer metastasis and M2 polarization in lung cancer with EGFR mutations.
    2. Disruption of Phosphodiesterase 3A Binding to SERCA2 Increases SERCA2 Activity and Reduces Mortality in Mice With Chronic Heart Failure.
      Title: Disruption of Phosphodiesterase 3A Binding to SERCA2 Increases SERCA2 Activity and Reduces Mortality in Mice With Chronic Heart Failure.
    3. Mutant phosphodiesterase 3A protects the kidney from hypertension-induced damage.
      Title: Mutant phosphodiesterase 3A protects the kidney from hypertension-induced damage.
    4. Mutations in Phosphodiesterase 3A (PDE3A) Cause Hypertension Without Cardiac Damage.
      Title: Mutations in Phosphodiesterase 3A (PDE3A) Cause Hypertension Without Cardiac Damage.
    5. Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage.
      Title: Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage.
    6. Impact of phosphodiesterases PDE3 and PDE4 on 5-hydroxytryptamine receptor4-mediated increase of cAMP in human atrial fibrillation.
      Title: Impact of phosphodiesterases PDE3 and PDE4 on 5-hydroxytryptamine receptor4-mediated increase of cAMP in human atrial fibrillation.
    7. Structure of PDE3A-SLFN12 complex reveals requirements for activation of SLFN12 RNase.
      Title: Structure of PDE3A-SLFN12 complex reveals requirements for activation of SLFN12 RNase.
    8. Identification and functional study of genetic polymorphisms in cyclic nucleotide phosphodiesterase 3A (PDE3A).
      Title: Identification and functional study of genetic polymorphisms in cyclic nucleotide phosphodiesterase 3A (PDE3A).
    9. Nitric oxide activates AMPK by modulating PDE3A in human pulmonary artery smooth muscle cells.
      Title: Nitric oxide activates AMPK by modulating PDE3A in human pulmonary artery smooth muscle cells.
    10. Phosphodiesterase 3A Represents a Therapeutic Target that Drives Stem Cell-like Property and Metastasis in Breast Cancer.
      Title: Phosphodiesterase 3A Represents a Therapeutic Target that Drives Stem Cell-like Property and Metastasis in Breast Cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Brachydactyly-arterial hypertension syndrome
    MedGen: C1862170 OMIM: 112410 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
    EBI GWAS Catalog
    Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations
    EBI GWAS Catalog
    Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.
    EBI GWAS Catalog
    Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNFα inhibitors in patients with rheumatoid arthritis.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat decreases the intracellular levels of cAMP and CREB ser-133 phosphorylation through a signal transduction pathway involving sequential activation of phosphatidylinositol 3-kinase, AKT, and cyclic nucleoside phosphodiesterases PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37884

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3',5'-cGMP-inhibited cyclic-nucleotide phosphodiesterase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 3',5'-cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 3',5'-cyclic-AMP phosphodiesterase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3',5'-cyclic-AMP phosphodiesterase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 3',5'-cyclic-AMP phosphodiesterase activity TAS
    Traceable Author Statement
    more info
    		  
    enables 3',5'-cyclic-GMP phosphodiesterase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3',5'-cyclic-GMP phosphodiesterase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 3',5'-cyclic-nucleotide phosphodiesterase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables estrogen binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nuclear estrogen receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cAMP-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cAMP-mediated signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cGMP-mediated signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to cGMP IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to transforming growth factor beta stimulus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cAMP-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of vascular permeability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in oocyte maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of oocyte development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of vascular permeability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of meiotic nuclear division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of ribonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of ribonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in steroid hormone receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A
    Names
    cAMP phosphodiesterase, myocardial cGMP-inhibited
    cGMP-inhibited 3',5'-cyclic phosphodiesterase A
    cGMP-inhibited cAMP phosphodiesterase
    cyclic GMP-inhibited phosphodiesterase A
    phosphodiesterase 3A, cGMP-inhibited
    NP_000912.3
    NP_001231612.1
    NP_001365336.1
    NP_001365337.1
    NP_001365338.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030033.2 RefSeqGene

      Range
      5002..325048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000921.5 → NP_000912.3  cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 1

      See identical proteins and their annotated locations for NP_000912.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC112777, AC129102
      Consensus CDS
      CCDS31754.1
      UniProtKB/Swiss-Prot
      O60865, Q13348, Q14432, Q17RD1
      Related
      ENSP00000351957.3, ENST00000359062.4
      Conserved Domains (1) summary
      pfam00233
      Location:751 → 1012
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

    2. NM_001244683.2 → NP_001231612.1  cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC112777
      Conserved Domains (1) summary
      pfam00233
      Location:429 → 690
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

    3. NM_001378407.1 → NP_001365336.1  cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC112777, AC129102
      Conserved Domains (1) summary
      pfam00233
      Location:649 → 910
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

    4. NM_001378408.1 → NP_001365337.1  cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC112777, AC129029, AC129102
      Conserved Domains (1) summary
      pfam00233
      Location:430 → 691
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

    5. NM_001378409.1 → NP_001365338.1  cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC112777
      Conserved Domains (1) summary
      pfam00233
      Location:429 → 690
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      20368537..20688583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      20246943..20567173
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14432.3 GenPept UniProtKB/Swiss-Prot:Q14432

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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