Aliases for PDE2A Gene

Aliases for PDE2A Gene

  • Phosphodiesterase 2A 2 3 5
  • CGMP-Dependent 3',5'-Cyclic Phosphodiesterase 3 4
  • Cyclic GMP-Stimulated Phosphodiesterase 3 4
  • Phosphodiesterase 2A, CGMP-Stimulated 2 3
  • EC 3.1.4.17 4 51
  • CGS-PDE 3 4
  • CGSPDE 3 4
  • CGMP-Stimulated Phosphodiesterase 1 3
  • CGMP-Stimulated Phosphodiesterase 2 3
  • CGMP-Stimulated Phosphodiesterase 4 3
  • EC 3.1.4 51
  • PDE2A1 3
  • PED2A4 3
  • PDE2A 5

External Ids for PDE2A Gene

Previous GeneCards Identifiers for PDE2A Gene

  • GC11M074619
  • GC11M073826
  • GC11M072509
  • GC11M072013
  • GC11M071964
  • GC11M072287
  • GC11M068580

Summaries for PDE2A Gene

GeneCards Summary for PDE2A Gene

PDE2A (Phosphodiesterase 2A) is a Protein Coding gene. Diseases associated with PDE2A include Paroxysmal Dystonia and Chorea, Benign Hereditary. Among its related pathways are Sweet Taste Signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and calcium channel activity. An important paralog of this gene is PDE11A.

UniProtKB/Swiss-Prot Summary for PDE2A Gene

  • Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Plays an important role in growth and invasion of malignant melanoma cells (e.g. pseudomyxoma peritonei (PMP) cell line) (PubMed:24705027).
  • [Isoform PDE2A2]: Regulates mitochondrial cAMP levels and respiration (By similarity). Involved in the regulation of mitochondria morphology/dynamics and apoptotic cell death via local modulation of cAMP/PKA signaling in the mitochondrion, including the monitoring of local cAMP levels at the outer mitochondrial membrane and of PKA-dependent phosphorylation of DNM1L (PubMed:28463107).

Tocris Summary for PDE2A Gene

  • Phosphodiesterases (PDEs) are a family of phosphohydrolyases that catalyze the hydrolysis of 3' cyclic phosphate bonds in adenosine and/or guanine 3',5' cyclic monophosphate (cAMP and/or cGMP). PDEs regulate the second messengers by controlling their degradation.

Gene Wiki entry for PDE2A Gene

No data available for Entrez Gene Summary , CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDE2A Gene

Genomics for PDE2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PDE2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J072674 Promoter/Enhancer 0.9 EPDnew ENCODE 600.7 +0.1 112 0.1 MCM3 ZNF444 EHMT2 POLR2A ZNF398 ZNF143 EZH2 NFXL1 EGR1 PDE2A lnc-PDE2A-2 NUMA1 LOC100128494 ENSG00000257038 PDE2A-AS1 CLPB
GH11J072672 Promoter 0.6 Ensembl 600.7 +1.5 1490 0.6 POLR2A MNT ZFHX2 EGR2 PDE2A lnc-PDE2A-2 ARAP1 PDE2A-AS1 CLPB
GH11J072675 Enhancer 0.3 Ensembl 600.7 -0.3 -310 0.2 ZNF444 EHMT2 PDE2A lnc-PDE2A-2 ARAP1-AS1 ARAP1
GH11J072624 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 21 +48.3 48290 3.8 IKZF1 RXRB SP1 GABPA MNT FOXK2 FOXA2 CREB1 NR2F2 FOXP1 PDE2A ARAP1-AS1 ARAP1 P2RY6 RELT RF00066-037 RNU7-105P PDE2A-AS1 lnc-PDE2A-2 CLPB
GH11J072652 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.2 +21.1 21094 1.4 RFX1 IKZF1 RFX5 MTA2 PKNOX1 MTA1 NR2C1 DPF2 HDAC1 SOX6 PDE2A ARAP1 MIR139 ARAP1-AS1 RNU7-105P PDE2A-AS1 lnc-PDE2A-2 CLPB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDE2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDE2A

Top Transcription factor binding sites by QIAGEN in the PDE2A gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Egr-2
  • Nkx3-1
  • NRSF form 1
  • NRSF form 2

Genomic Locations for PDE2A Gene

Genomic Locations for PDE2A Gene
chr11:72,576,140-72,674,591
(GRCh38/hg38)
Size:
98,452 bases
Orientation:
Minus strand
chr11:72,287,185-72,385,635
(GRCh37/hg19)
Size:
98,451 bases
Orientation:
Minus strand

Genomic View for PDE2A Gene

Genes around PDE2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDE2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDE2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDE2A Gene

Proteins for PDE2A Gene

  • Protein details for PDE2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00408-PDE2A_HUMAN
    Recommended name:
    cGMP-dependent 3',5'-cyclic phosphodiesterase
    Protein Accession:
    O00408
    Secondary Accessions:
    • B2R646
    • B3KRV5
    • E9PGI1
    • F6W5Z0
    • Q5J791
    • Q5J792
    • Q5J793
    • Q6ZMR1

    Protein attributes for PDE2A Gene

    Size:
    941 amino acids
    Molecular mass:
    105717 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAS75515.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • cGMP binds at an allosteric activator site.
    • [Isoform PDE2A1]: Soluble form.
    • [Isoform PDE2A2]: Contains a transit peptide at positions 1-17.

    Three dimensional structures from OCA and Proteopedia for PDE2A Gene

    Alternative splice isoforms for PDE2A Gene

neXtProt entry for PDE2A Gene

Selected DME Specific Peptides for PDE2A Gene

O00408:
  • ERHHFAQ
  • HDLDHRG
  • EIFALFISCMCHDLDHRGTNNSFQVASKSVLAALYSSEGS
  • SVMERHHF
  • ISCMCHDL

Post-translational modifications for PDE2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PDE2A Gene

Gene Families for PDE2A Gene

Protein Domains for PDE2A Gene

Suggested Antigen Peptide Sequences for PDE2A Gene

GenScript: Design optimal peptide antigens:
  • Cyclic GMP-stimulated phosphodiesterase (PDE2A_HUMAN)
  • CGMP-stimulated phosphodiesterase 2 (Q5J791_HUMAN)
  • cGMP-stimulated phosphodiesterase 1 (Q5J792_HUMAN)
  • cGMP-stimulated phosphodiesterase 4 (Q5J793_HUMAN)
  • cDNA FLJ16750 fis, clone ADRGL2011190, highly similar to cGMP-dependent 3',5'-cyclic phosphodiesterase (EC 3.1.4.17) (Q6ZMR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00408

UniProtKB/Swiss-Prot:

PDE2A_HUMAN :
  • GAF 1 functions as a dimerization domain, whereas GAF 2 binds cGMP, which causes activation of the catalytic activity of the enzyme.
  • Belongs to the cyclic nucleotide phosphodiesterase family. PDE2 subfamily.
Domain:
  • GAF 1 functions as a dimerization domain, whereas GAF 2 binds cGMP, which causes activation of the catalytic activity of the enzyme.
Family:
  • Belongs to the cyclic nucleotide phosphodiesterase family. PDE2 subfamily.
genes like me logo Genes that share domains with PDE2A: view

Function for PDE2A Gene

Molecular function for PDE2A Gene

UniProtKB/Swiss-Prot Function:
Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Plays an important role in growth and invasion of malignant melanoma cells (e.g. pseudomyxoma peritonei (PMP) cell line) (PubMed:24705027).
UniProtKB/Swiss-Prot Function:
[Isoform PDE2A2]: Regulates mitochondrial cAMP levels and respiration (By similarity). Involved in the regulation of mitochondria morphology/dynamics and apoptotic cell death via local modulation of cAMP/PKA signaling in the mitochondrion, including the monitoring of local cAMP levels at the outer mitochondrial membrane and of PKA-dependent phosphorylation of DNM1L (PubMed:28463107).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a nucleoside 3',5'-cyclic phosphate + H2O = a nucleoside 5'-phosphate + H(+); Xref=Rhea:RHEA:14653, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57867, ChEBI:CHEBI:58464; EC=3.1.4.17;.

Enzyme Numbers (IUBMB) for PDE2A Gene

Phenotypes From GWAS Catalog for PDE2A Gene

Gene Ontology (GO) - Molecular Function for PDE2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IDA 15938621
GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity IEA --
GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity IBA,IDA 15938621
GO:0004118 cGMP-stimulated cyclic-nucleotide phosphodiesterase activity TAS,IDA 17329248
genes like me logo Genes that share ontologies with PDE2A: view
genes like me logo Genes that share phenotypes with PDE2A: view

Animal Models for PDE2A Gene

MGI Knock Outs for PDE2A:

Animal Model Products

  • Taconic Biosciences Mouse Models for PDE2A

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDE2A

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PDE2A Gene

Localization for PDE2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDE2A Gene

[Isoform PDE2A3]: Cell membrane. Lipid-anchor.
[Isoform PDE2A2]: Mitochondrion matrix. Mitochondrion inner membrane. Mitochondrion outer membrane.
[Isoform PDE2A1]: Cytoplasm.
[Isoform 5]: Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDE2A gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
nucleus 5
cytosol 5
endoplasmic reticulum 4
golgi apparatus 4
extracellular 2
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PDE2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 10375378
GO:0005737 cytoplasm IEA,IDA 10375378
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IBA,IDA 28463107
GO:0005743 mitochondrial inner membrane IBA,IDA 28463107
genes like me logo Genes that share ontologies with PDE2A: view

Pathways & Interactions for PDE2A Gene

PathCards logo

SuperPathways for PDE2A Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
2 Sweet Taste Signaling
.72
.46
.44
.37
3 Signaling by GPCR
4 Nitric oxide stimulates guanylate cyclase
5 Aldosterone synthesis and secretion
genes like me logo Genes that share pathways with PDE2A: view

Pathways by source for PDE2A Gene

1 R&D Systems pathway for PDE2A Gene
10 Qiagen pathways for PDE2A Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
  • Bitter Taste Signaling
  • cAMP Pathway

Gene Ontology (GO) - Biological Process for PDE2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 17329248
GO:0003170 heart valve development ISS --
GO:0003281 ventricular septum development ISS --
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with PDE2A: view

No data available for SIGNOR curated interactions for PDE2A Gene

Drugs & Compounds for PDE2A Gene

(29) Drugs for PDE2A Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dipyridamole Approved Pharma Inhibitor, Inhibition Adenosine transport inhibitor 93
Milrinone Approved Pharma Inhibitor, Inhibition, inhibitor PDE-3 inhibitor 49
Sildenafil Approved, Investigational Pharma Inhibitor, Inhibition PDE5 inhibitor, selective 0
Caffeine Approved Pharma Antagonist, Activator, Target, inhibitor 603
Water Approved Pharma 0

(16) Additional Compounds for PDE2A Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
IBMX
Antagonist 28822-58-4
Eggmanone
505068-32-6
Etazolate hydrochloride
35838-58-5
MY-5445
78351-75-4
Ro 20-1724
29925-17-5

(5) Tocris Compounds for PDE2A Gene

Compound Action Cas Number
Eggmanone Potent and selective PDE4 inhibitor; suppresses hedgehog signaling 505068-32-6
Etazolate hydrochloride PDE4 inhibitor 35838-58-5
IBMX PDE inhibitor (non-selective) 28822-58-4
MY-5445 PDE5 inhibitor 78351-75-4
Ro 20-1724 PDE4 inhibitor 29925-17-5

(1) ApexBio Compounds for PDE2A Gene

Compound Action Cas Number
Dipyridamole 58-32-2
genes like me logo Genes that share compounds with PDE2A: view

Drug Products

Transcripts for PDE2A Gene

mRNA/cDNA for PDE2A Gene

4 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
27 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDE2A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDE2A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22a ·
SP1: - - - - -
SP2: - - - -
SP3: - - - - - - - - - - - - - -
SP4: -
SP5: - - -
SP6:
SP7:
SP8:
SP9:

ExUns: 22b ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31a · 31b
SP1: - -
SP2: -
SP3: - -
SP4: -
SP5:
SP6: -
SP7:
SP8:
SP9: -

Relevant External Links for PDE2A Gene

GeneLoc Exon Structure for
PDE2A

Expression for PDE2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PDE2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDE2A Gene

This gene is overexpressed in Spleen (x5.1) and Brain - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for PDE2A Gene

This gene is overexpressed in Frontal cortex (24.7), Brain (20.9), and Adrenal (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PDE2A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDE2A

SOURCE GeneReport for Unigene cluster for PDE2A Gene:

Hs.503163

mRNA Expression by UniProt/SwissProt for PDE2A Gene:

O00408-PDE2A_HUMAN
Tissue specificity: Expressed in brain and to a lesser extent in heart, placenta, lung, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for PDE2A Gene

  • Nervous system(5)
  • Adrenal gland(4.5)
  • Heart(2.5)
  • Muscle(2.4)
  • Spleen(2.3)
  • Kidney(2.1)
  • Blood(2)
genes like me logo Genes that share expression patterns with PDE2A: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDE2A Gene

Orthologs for PDE2A Gene

This gene was present in the common ancestor of animals.

Orthologs for PDE2A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PDE2A 30 31
  • 99.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PDE2A 30 31
  • 91.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PDE2A 30 31
  • 90.29 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PDE2A 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Pde2a 30 17 31
  • 88.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pde2a 30
  • 88.17 (n)
Oppossum
(Monodelphis domestica)
Mammalia PDE2A 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pde2a 30
  • 72.51 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13289 30
Zebrafish
(Danio rerio)
Actinopterygii PDE2A (2 of 2) 31
  • 80 (a)
OneToMany
PDE2A (1 of 2) 31
  • 80 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008304 30
  • 57.92 (n)
Worm
(Caenorhabditis elegans)
Secernentea R08D7.6 32
  • 37 (a)
pde-2 31
  • 27 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 19 (a)
OneToOne
Species where no ortholog for PDE2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PDE2A Gene

ENSEMBL:
Gene Tree for PDE2A (if available)
TreeFam:
Gene Tree for PDE2A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDE2A: view image

Paralogs for PDE2A Gene

(8) SIMAP similar genes for PDE2A Gene using alignment to 22 proteins:

  • PDE2A_HUMAN
  • C9JPD5_HUMAN
  • E9PEF1_HUMAN
  • F5GXX2_HUMAN
  • F5H130_HUMAN
  • F5H143_HUMAN
  • F5H1D7_HUMAN
  • F5H2R8_HUMAN
  • F5H2V7_HUMAN
  • F5H2Z0_HUMAN
  • F5H3Z7_HUMAN
  • F5H5P8_HUMAN
  • F6W5Z0_HUMAN
  • H0YFL1_HUMAN
  • H0YG13_HUMAN
  • H0YGL2_HUMAN
  • H7C009_HUMAN
  • L8E8Y0_HUMAN
  • Q5J791_HUMAN
  • Q5J792_HUMAN
  • Q6ZMR1_HUMAN
  • Q8IW54_HUMAN
genes like me logo Genes that share paralogs with PDE2A: view

Variants for PDE2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDE2A Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
689477 Pathogenic: Generalized hypotonia; Chorea; Paroxysmal dystonia; Intellectual disability, moderate; EEG abnormality; Interictal EEG abnormality 72,586,072(-) G/A NONSENSE
691366 Uncertain Significance: Pyloric stenosis; Esophageal atresia 72,578,910(-) G/A MISSENSE_VARIANT
719159 Benign: not provided 72,590,472(-) C/A MISSENSE_VARIANT
736928 Likely Benign: not provided 72,597,500(-) T/A INTRON_VARIANT
rs341047 - p.Thr224Ile

Additional dbSNP identifiers (rs#s) for PDE2A Gene

Structural Variations from Database of Genomic Variants (DGV) for PDE2A Gene

Variant ID Type Subtype PubMed ID
dgv2005n54 CNV loss 21841781
esv1004730 CNV insertion 20482838
esv1163550 CNV insertion 17803354
esv1200915 CNV insertion 17803354
esv2325810 CNV deletion 18987734
esv25409 CNV loss 19812545
esv2664373 CNV deletion 23128226
esv3302942 CNV tandem duplication 20981092
esv3304300 CNV mobile element insertion 20981092
esv3305152 CNV mobile element insertion 20981092
esv3309897 CNV mobile element insertion 20981092
esv3395175 CNV insertion 20981092
esv3401549 CNV duplication 20981092
esv3413076 CNV duplication 20981092
nsv1042182 CNV gain 25217958
nsv468633 CNV loss 19166990
nsv478394 CNV novel sequence insertion 20440878
nsv478707 CNV novel sequence insertion 20440878
nsv509429 CNV insertion 20534489
nsv523601 CNV loss 19592680
nsv825991 CNV gain 20364138
nsv832207 CNV loss 17160897

Variation tolerance for PDE2A Gene

Residual Variation Intolerance Score: 10.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.01; 60.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDE2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDE2A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDE2A Gene

Disorders for PDE2A Gene

MalaCards: The human disease database

(8) MalaCards diseases for PDE2A Gene - From: ClinVar, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PDE2A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PDE2A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PDE2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDE2A Gene

Publications for PDE2A Gene

  1. Isolation and characterization of human cDNAs encoding a cGMP-stimulated 3',5'-cyclic nucleotide phosphodiesterase. (PMID: 9210593) Rosman GJ … Loughney K (Gene 1997) 2 3 4 23
  2. Mechanism for the allosteric regulation of phosphodiesterase 2A deduced from the X-ray structure of a near full-length construct. (PMID: 19828435) Pandit J … Menniti FS (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 23
  3. Structural determinants for inhibitor specificity and selectivity in PDE2A using the wheat germ in vitro translation system. (PMID: 15938621) Iffland A … Ellenberger T (Biochemistry 2005) 3 4 23
  4. PDE2A2 regulates mitochondria morphology and apoptotic cell death via local modulation of cAMP/PKA signalling. (PMID: 28463107) Monterisi S … Zaccolo M (eLife 2017) 3 4
  5. Role of phosphodiesterase 2 in growth and invasion of human malignant melanoma cells. (PMID: 24705027) Hiramoto K … Arai N (Cellular signalling 2014) 3 4

Products for PDE2A Gene

Sources for PDE2A Gene