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PDE3A phosphodiesterase 3A [ Homo sapiens (human) ]

Gene ID: 5139, updated on 11-Apr-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
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Genomic context

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Location:
12p12.2
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (20368537..20688583)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (20246943..20567173)
105.20220307 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
  • 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. Mutations in Phosphodiesterase 3A (PDE3A) Cause Hypertension Without Cardiac Damage. Ercu M, et al. Hypertension, 2023 Jun. PMID 37035914
  2. Identification and functional study of genetic polymorphisms in cyclic nucleotide phosphodiesterase 3A (PDE3A). Kim YR, et al. Ann Hum Genet, 2021 Mar. PMID 33249558, Free PMC Article
  3. Nitric oxide activates AMPK by modulating PDE3A in human pulmonary artery smooth muscle cells. Dillard J, et al. Physiol Rep, 2020 Sep. PMID 32914566, Free PMC Article
  4. Phosphodiesterase 3A Represents a Therapeutic Target that Drives Stem Cell-like Property and Metastasis in Breast Cancer. Hao N, et al. Mol Cancer Ther, 2020 Mar. PMID 31871268
  5. Influence of Genetic Variation in PDE3A on Endothelial Function and Stroke. Traylor M, et al. Hypertension, 2020 Feb. PMID 31865795, Free PMC Article

See all (82) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Mutant phosphodiesterase 3A protects the kidney from hypertension-induced damage.
    Title: Mutant phosphodiesterase 3A protects the kidney from hypertension-induced damage.
  3. Mutations in Phosphodiesterase 3A (PDE3A) Cause Hypertension Without Cardiac Damage.
    Title: Mutations in Phosphodiesterase 3A (PDE3A) Cause Hypertension Without Cardiac Damage.
  4. Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage.
    Title: Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage.
  5. 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.
  6. 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.
  7. 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).
  8. 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.
  9. 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.
  10. Influence of Genetic Variation in PDE3A on Endothelial Function and Stroke.
    Title: Influence of Genetic Variation in PDE3A on Endothelial Function and Stroke.
Submit: New GeneRIF Correction See all GeneRIFs (41)

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'-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 cGMP-inhibited 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 mediated 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_2023_10

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

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