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    PDE3A phosphodiesterase 3A [ Homo sapiens (human) ]

    Gene ID: 5139, updated on 10-Dec-2024

    Summary

    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

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (22 hits/1273 screens)

    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

    HIV-1 interactions

    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

    Interactions

    General gene information

    Clone Names

    • FLJ37884

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway  
    involved_in apoptotic signaling pathway PubMed 
    involved_in apoptotic signaling pathway PubMed 
    involved_in cAMP-mediated signaling  
    involved_in cGMP-mediated signaling PubMed 
    involved_in cellular response to cGMP PubMed 
    involved_in cellular response to transforming growth factor beta stimulus PubMed 
    involved_in lipid metabolic process PubMed 
    involved_in negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway PubMed 
    involved_in negative regulation of apoptotic process  
    involved_in negative regulation of cAMP-mediated signaling  
    involved_in negative regulation of vascular permeability PubMed 
    involved_in oocyte maturation  
    involved_in positive regulation of oocyte development  
    involved_in positive regulation of vascular permeability PubMed 
    involved_in regulation of meiotic nuclear division  
    involved_in regulation of ribonuclease activity PubMed 
    involved_in regulation of ribonuclease activity PubMed 
    involved_in response to xenobiotic stimulus  
    involved_in steroid hormone receptor signaling pathway  
    Component Evidence Code Pubs
    is_active_in cytosol  
    located_in cytosol PubMed 
    located_in cytosol  
    located_in membrane  

    General protein information

    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)

    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)
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