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PDE2A phosphodiesterase 2A [ Homo sapiens (human) ]

Gene ID: 5138, updated on 27-Feb-2020

Summary

Official Symbol
PDE2Aprovided by HGNC
Official Full Name
phosphodiesterase 2Aprovided by HGNC
Primary source
HGNC:HGNC:8777
See related
Ensembl:ENSG00000186642 MIM:602658
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PDE2A1; PED2A4; cGSPDE; CGS-PDE
Expression
Broad expression in spleen (RPKM 45.0), brain (RPKM 27.8) and 14 other tissues See more
Orthologs

Genomic context

See PDE2A in Genome Data Viewer
Location:
11q13.4
Exon count:
35
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (72576140..72674422, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (72287184..72385497, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cyclic nucleotide gated channel subunit alpha 1 pseudogene Neighboring gene long intergenic non-protein coding RNA 1537 Neighboring gene PDE2A antisense RNA 2 Neighboring gene uncharacterized LOC105369377 Neighboring gene RNA, U7 small nuclear 105 pseudogene Neighboring gene microRNA 139 Neighboring gene PDE2A antisense RNA 1 Neighboring gene ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 Neighboring gene ARAP1 antisense RNA 2 Neighboring gene ribosomal protein S12 pseudogene 20

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

NHGRI GWAS Catalog

Description
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
NHGRI GWA Catalog
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
NHGRI GWA 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3',5'-cyclic-AMP phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3',5'-cyclic-AMP phosphodiesterase activity IDA
Inferred from Direct Assay
more info
PubMed 
3',5'-cyclic-GMP phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3',5'-cyclic-GMP phosphodiesterase activity IDA
Inferred from Direct Assay
more info
PubMed 
TPR domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
cAMP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
cGMP binding IDA
Inferred from Direct Assay
more info
PubMed 
cGMP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IDA
Inferred from Direct Assay
more info
PubMed 
drug binding IDA
Inferred from Direct Assay
more info
PubMed 
drug binding IPI
Inferred from Physical Interaction
more info
PubMed 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphate ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
aorta development ISS
Inferred from Sequence or Structural Similarity
more info
 
cAMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cAMP-mediated signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
cGMP catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cGMP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cGMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cGMP-mediated signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to 2,3,7,8-tetrachlorodibenzodioxine IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to cAMP IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to cGMP IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to drug IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to macrophage colony-stimulating factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to mechanical stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to transforming growth factor beta stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
establishment of endothelial barrier ISS
Inferred from Sequence or Structural Similarity
more info
 
heart valve development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cAMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cAMP-mediated signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cGMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of vascular permeability IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of vascular permeability IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitochondrion organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ventricular septum development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
presynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
cGMP-dependent 3',5'-cyclic phosphodiesterase
Names
cGMP-stimulated phosphodiesterase 1
cGMP-stimulated phosphodiesterase 2
cGMP-stimulated phosphodiesterase 4
cyclic GMP-stimulated phosphodiesterase
phosphodiesterase 2A, cGMP-stimulated
NP_001137311.1
NP_001139681.1
NP_001230713.1
NP_002590.1
XP_005274097.1

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001143839.4NP_001137311.1  cGMP-dependent 3',5'-cyclic phosphodiesterase isoform PDE2A2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate start codon, compared to variant 1. The encoded isoform (PDE2A2) is shorter and has a distinct N-terminus, compared to isoform PDE2A3. This variant (2) is assembled from partial human transcripts. The full-length exon combination is inferred from the mouse ortholog (NM_001143849.1, see PMID: 21724846)
    Source sequence(s)
    AP003065, AP005019
    Consensus CDS
    CCDS44670.1
    UniProtKB/Swiss-Prot
    O00408
    UniProtKB/TrEMBL
    Q8IW54
    Related
    ENSP00000442256.1, ENST00000544570.5
    Conserved Domains (2) summary
    smart00065
    Location:402551
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:648878
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  2. NM_001146209.2NP_001139681.1  cGMP-dependent 3',5'-cyclic phosphodiesterase isoform PDE2A4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate start codon, compared to variant 1. The encoded isoform, PDE2A4 (AY495087.1), is shorter and has a distinct N-terminus, compared to isoform PDE2A3.
    Source sequence(s)
    AI498038, AP005019, AY495087, BC040974, U67733
    Consensus CDS
    CCDS53678.1
    UniProtKB/Swiss-Prot
    O00408
    UniProtKB/TrEMBL
    Q8IW54
    Related
    ENSP00000446399.1, ENST00000540345.5
    Conserved Domains (2) summary
    smart00065
    Location:400549
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:646876
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  3. NM_001243784.1NP_001230713.1  cGMP-dependent 3',5'-cyclic phosphodiesterase isoform PDE2A1

    See identical proteins and their annotated locations for NP_001230713.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate start codon, compared to variant 1. The encoded isoform (PDE2A1) is shorter and has a distinct N-terminus, compared to isoform 1. This variant (2) is assembled from partial human transcripts. The full-length exon combination is inferred from the mouse ortholog (NM_001243757.1, see PMID: 19632989)
    Source sequence(s)
    AI498038, AP005019, BC040974, DA219662, DA329075, U67733
    Consensus CDS
    CCDS73345.1
    UniProtKB/Swiss-Prot
    O00408
    UniProtKB/TrEMBL
    Q8IW54
    Related
    ENSP00000411657.3, ENST00000444035.6
    Conserved Domains (2) summary
    smart00065
    Location:388537
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:634864
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  4. NM_002599.5NP_002590.1  cGMP-dependent 3',5'-cyclic phosphodiesterase isoform PDE2A3

    See identical proteins and their annotated locations for NP_002590.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform, PDE2A3 (see PMID:9210593).
    Source sequence(s)
    AP003065, AP005019
    Consensus CDS
    CCDS8216.1
    UniProtKB/Swiss-Prot
    O00408
    UniProtKB/TrEMBL
    Q8IW54
    Related
    ENSP00000334910.5, ENST00000334456.10
    Conserved Domains (2) summary
    smart00065
    Location:409558
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:655885
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    72576140..72674422 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274040.3XP_005274097.1  cGMP-dependent 3',5'-cyclic phosphodiesterase isoform X1

    Conserved Domains (2) summary
    smart00065
    Location:408557
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:654887
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
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