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PDE9A Gene

protein-coding   GIFtS: 64
GCID: GC21P044073

Phosphodiesterase 9A

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Phosphodiesterase 9A1 2     High Affinity CGMP-Specific 3',5'-Cyclic Phosphodiesterase 9A2
HSPDE9A22 5     Phosphodiesterase PDE9A212
CGMP-Specific 3',5'-Cyclic Phosphodiesterase Type 9, EC 3.1.4.1711     EC 3.1.4.353
CGMP-Specific 3',5'-Cyclic Phosphodiesterase Type 92     

External Ids:    HGNC: 87951   Entrez Gene: 51522   Ensembl: ENSG000001601917   OMIM: 6029735   UniProtKB: O760833   

Export aliases for PDE9A gene to outside databases

Previous GC identifers: GC21P040621 GC21P042968 GC21P042946 GC21P029521


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PDE9A Gene:
The protein encoded by this gene catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates.
The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these
cyclic nucleotides. Multiple transcript variants encoding several different isoforms have been found for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for PDE9A Gene:
PDE9A (phosphodiesterase 9A) is a protein-coding gene. Diseases associated with PDE9A include sickle cell anemia, and sickle cell disease. GO annotations related to this gene include 3',5'-cyclic-GMP phosphodiesterase activity and 3',5'-cyclic-nucleotide phosphodiesterase activity. An important paralog of this gene is PDE4D.

UniProtKB/Swiss-Prot: PDE9A_HUMAN, O76083
Function: Hydrolyzes the second messenger cGMP, which is a key regulator of many important physiological processes

Gene Wiki entry for PDE9A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NT_011512.12  NC_018932.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PDE9A gene promoter:
         STAT5B   Spz1   STAT4   STAT6   STAT5A   Evi-1   AREB6   CP2   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PDE9A promoter sequence

   Search Chromatin IP Primers for PDE9A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PDE9A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
PDE9A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDE9A gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P044073:   GeneLoc Nature:405,311-319
Start:
44,073,746 bp from pter       29,621,249 bp from centromere
End:
44,195,619 bp from pter 29,742,945 bp from centromere
Size:
121,874 bases 121,697 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: AF067223
genomic clones: KB1559F8 to KB51A8


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PDE9A_HUMAN, O76083 (See protein sequence)
Recommended Name: High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A  
Size: 593 amino acids; 68493 Da
Cofactor: Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a
preference for magnesium and/or manganese ions
Selected PDB 3D structures from and Proteopedia for PDE9A (see all 18):
2HD1 (3D)        2YY2 (3D)        3DY8 (3D)        3DYL (3D)        3DYN (3D)        3DYQ (3D)    
Secondary accessions: B2RBI5 B4DFI5 D3DSJ8 D3DSJ9 O75490 O75491 O95225 Q53Y40 Q5QD39 Q86SF7
Q86SI6 Q86SJ3 Q86WN3 Q86WN4 Q86WN5 Q86WN6 Q86WN7 Q86WN8 Q86WN9 Q86WP0
Alternative splicing: 16 isoforms:  O76083-1   O76083-2   O76083-3   O76083-4   O76083-5   O76083-6   O76083-7   O76083-8   
O76083-9   O76083-10   O76083-11   O76083-12   O76083-13   O76083-14   O76083-15   O76083-16   

Explore the universe of human proteins at neXtProt for PDE9A: NX_O76083

Explore proteomics data for PDE9A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PDE9A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (20 alternative transcripts): 
    NP_001001567.1  NP_001001568.1  NP_001001569.1  NP_001001570.1  NP_001001571.1  NP_001001572.1  NP_001001573.1  NP_001001574.1  
    NP_001001575.1  NP_001001576.1  NP_001001577.1  NP_001001578.1  NP_001001579.1  NP_001001580.1  NP_001001581.1  NP_001001582.1  
    NP_001001583.1  NP_001001584.1  NP_001001585.1  NP_002597.1  

    ENSEMBL proteins: 
     ENSP00000335242   ENSP00000291539   ENSP00000369685   ENSP00000381287   ENSP00000381289  
     ENSP00000381291   ENSP00000328699   ENSP00000335365   ENSP00000381281   ENSP00000381285  
     ENSP00000381283   ENSP00000344730   ENSP00000381280   ENSP00000441899  
    Reactome Protein details: O76083

    PDE9A Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for PDE9A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PDE: Phosphodiesterases

    IUPHAR Guide to PHARMACOLOGY protein family classification: PDE9A
    Phosphodiesterases, 3',5'-cyclic nucleotide

    4 InterPro protein domains:
     IPR002073 PDEase_catalytic_dom
     IPR023174 PDEase_CS
     IPR023088 PDEase
     IPR003607 HD/PDEase_dom

    Graphical View of Domain Structure for InterPro Entry O76083

    ProtoNet protein and cluster: O76083

    UniProtKB/Swiss-Prot: PDE9A_HUMAN, O76083
    Domain: Composed of a C-terminal catalytic domain containing two putative divalent metal sites and an N-terminal
    regulatory domain
    Similarity: Belongs to the cyclic nucleotide phosphodiesterase family. PDE9 subfamily


    PDE9A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PDE9A_HUMAN, O76083
    Function: Hydrolyzes the second messenger cGMP, which is a key regulator of many important physiological processes
    Catalytic activity: Guanosine 3',5'-cyclic phosphate + H(2)O = guanosine 5'-phosphate
    Enzyme regulation: Inhibited by zaprinast

         Genatlas biochemistry entry for PDE9A:
    cGMP phosphodiesterase 9A,involved in signal transduction

         Enzyme Number (IUBMB): EC 3.1.4.351

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:00041143',5'-cyclic-nucleotide phosphodiesterase activity TAS9856478
    GO:0005515protein binding IPI16189514
    GO:0046872metal ion binding IEA--
    GO:00475553',5'-cyclic-GMP phosphodiesterase activity IEA--
         
    PDE9A for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PDE9A
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    3 qRT-PCR Assays for microRNAs that regulate PDE9A:
    hsa-miR-656 hsa-miR-2116 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidPDE9A 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 20): PDE9A (NM_001001573)
    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PDE9A_HUMAN, O76083: Isoform PDE9A1: Cell projection, ruffle membrane. Cytoplasm, perinuclear region. Golgi
    apparatus. Endoplasmic reticulum
    PDE9A_HUMAN, O76083: Isoform PDE9A2: Cell projection, ruffle membrane. Cytoplasm, perinuclear region
    PDE9A_HUMAN, O76083: Isoform PDE9A3: Cytoplasm. Endoplasmic reticulum
    PDE9A_HUMAN, O76083: Isoform PDE9A17: Cytoplasm. Endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane5
    nucleus2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0005829cytosol TAS--
    GO:0032587ruffle membrane IEA--
    GO:0043204perikaryon IEA--

    PDE9A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PDE9A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Nitric oxide stimulates guanylate cyclase
    Nitric oxide stimulates guanylate cyclase
    cGMP effects0.00
    2Hemostasis
    Hemostasis0.43
    3Purine metabolism (KEGG)
    Purine metabolism0.38
    4Regulation of Androgen receptor activity
    Regulation of Androgen receptor activity
    5Platelet homeostasis
    Platelet homeostasis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PDE9A
        Regulation of Androgen receptor activity


    1 Reactome Pathway for PDE9A
        cGMP effects


    1 Kegg Pathway  (Kegg details for PDE9A):
        Purine metabolism


    PDE9A for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PDE9A
    Interactions:

        Search GeneGlobe Interaction Network for PDE9A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PDE9A (O760831, 2, 3 ENSP000002915394) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM32Q130491, 3, ENSP000003630954EBI-742764,EBI-742790 I2D: score=4 STRING: ENSP00000363095
    PHYHIPLQ96FC72, 3, ENSP000003629874MINT-67385 I2D: score=5 STRING: ENSP00000362987
    SHBQ154643I2D: score=1 
    PDE9AO760832MINT-68235
    ADCY2ENSP000003429524STRING: ENSP00000342952
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS9856478
    GO:0007596blood coagulation TAS--
    GO:0008152metabolic process TAS9856478
    GO:0019934cGMP-mediated signaling IEA--

    PDE9A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PDE9A

    6 HMDB Compounds for PDE9A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    Cyclic GMP3',5'-cyclic GMP (see all 13)7665-99-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Manganesemanganese 7439-96-5--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 DrugBank Compounds for PDE9A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    3-ISOBUTYL-1-METHYLXANTHINE-- --target--10592235
    Gamma-Glutamyl[S-(2-Iodobenzyl)Cysteinyl]Glycine-- --target----

    2 IUPHAR Ligands for PDE9A (PDE9A)    About this table
    LigandTypeActionAffinityPubmed IDs
    SCH51866
    InhibitorInhibition5.89624146
    zaprinast
    InhibitorInhibition4.59624146

    2 Novoseek inferred chemical compound relationships for PDE9A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cgmp 64.7 7 9624146 (3), 18564357 (2), 14527714 (1)
    ibmx 58.5 1 9624146 (1)



    PDE9A for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PDE9A gene (20 alternative transcripts): 
    NM_001001567.1  NM_001001568.1  NM_001001569.1  NM_001001570.1  NM_001001571.1  NM_001001572.1  NM_001001573.1  NM_001001574.1  
    NM_001001575.1  NM_001001576.1  NM_001001577.1  NM_001001578.1  NM_001001579.1  NM_001001580.1  NM_001001581.1  NM_001001582.1  
    NM_001001583.1  NM_001001584.2  NM_001001585.1  NM_002606.2  

    Unigene Cluster for PDE9A:

    Phosphodiesterase 9A
    Hs.473927  [show with all ESTs]
    Unigene Representative Sequence: AK127770
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000460905 ENST00000472401 ENST00000335512(uc002zbn.3 uc002zbq.3 uc002zbs.3 uc002zbr.3 uc002zbt.3 uc002zbu.3 uc002zbv.3 uc002zbw.3 uc002zbx.3 uc002zby.3 uc002zcc.3 uc002zcd.3)
    ENST00000470987(uc002zbo.3 uc002zbz.3) ENST00000291539(uc002zbm.3 uc002zca.3 uc002zcb.3 uc002zce.3 uc002zcf.3)
    ENST00000490803(uc002zbp.3) ENST00000486902 ENST00000380328 ENST00000495521
    ENST00000398232 ENST00000462571(uc002zcg.3) ENST00000398234 ENST00000398236
    ENST00000468805 ENST00000328862 ENST00000335440 ENST00000398225 ENST00000497805

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    SwitchGear 3'UTR luciferase reporter plasmidPDE9A 3' UTR sequence
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    Additional mRNA sequence: 

    AF048837.1 AF067223.1 AF067224.1 AF067225.1 AF067226.1 AK001165.1 AK001307.1 AK096468.1 
    AK127770.1 AK294112.1 AK308753.1 AK314679.1 AY196299.1 AY196300.1 AY196301.1 AY196302.1 
    AY196303.1 AY196304.1 AY196305.1 AY196306.1 AY196307.1 AY196308.1 AY196309.1 AY196310.1 
    AY196311.1 AY196312.1 AY196313.1 AY196314.1 AY242121.1 AY701187.1 BC009047.1 BT007016.1 

    Selected DOTS entries (see all 26):

    DT.91736763  DT.211771  DT.100824007  DT.100663867  DT.100824009  DT.101980008  DT.40309894  DT.100035505 
    DT.100823998  DT.100824008  DT.92030465  DT.100823992  DT.100823997  DT.40256993  DT.75133739  DT.95269406 
    DT.100823993  DT.100824002  DT.100824004  DT.100824006  DT.40298721  DT.95269403  DT.100823994  DT.121140559 

    Selected AceView cDNA sequences (see all 135):

    AI492065 BQ029184 NM_001001581 BX112138 NM_001001568 NM_001001578 CR610522 NM_001001574 
    NM_001001583 NM_002606 CD671364 CR599741 AA456038 NM_001001579 AF048837 NM_001001582 
    AI243073 NM_001001584 AI658983 NM_001001573 NM_001001570 BX641267 NM_001001576 NM_001001575 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PDE9A (see all 14)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a ·
    SP1:                    -                       -     -     -           -     -     -                                               -                           
    SP2:                    -                 -     -     -     -           -     -     -                                               -                           
    SP3:                    -     -     -           -     -     -           -     -     -                                               -                           
    SP4:                    -     -     -           -     -     -           -     -     -                 -                             -                           
    SP5:                    -     -     -     -     -     -     -           -     -     -                                               -                           

    ExUns: 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25
    SP1:                          -                     
    SP2:                          -                     
    SP3:                          -                     
    SP4:                          -                     
    SP5:                          -                     


    ECgene alternative splicing isoforms for PDE9A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PDE9A expression in normal human tissues (normalized intensities)      PDE9A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGCTGTACA
    PDE9A Expression
    About this image


    PDE9A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             hIPS1
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Epiphyseal End
    PDE9A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDE9A Protein Expression

    Genevestigator expression for PDE9A

    SOURCE GeneReport for Unigene cluster: Hs.473927

    UniProtKB/Swiss-Prot: PDE9A_HUMAN, O76083
    Tissue specificity: Expressed in all tissues examined (testis, brain, small intestine, skeletal muscle, heart,
    lung, thymus, spleen, placenta, kidney, liver, pancreas, ovary and prostate) except blood. Highest levels in
    brain, heart, kidney, spleen, prostate and colon. Isoform PDE9A12 is found in prostate

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PDE9A gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pde9a1 , 5 phosphodiesterase 9A1, 5 87.4(n)1
    93.19(a)1
      17 (16.23 cM)5
    185851  NM_008804.41  NP_032830.31 
     313862345 
    chicken
    (Gallus gallus)
    Aves PDE9A1 phosphodiesterase 9A 79.75(n)
    88.39(a)
      418538  XM_416748.4  XP_416748.3 
    lizard
    (Anolis carolinensis)
    Reptilia PDE9A6
    phosphodiesterase 9A
    80(a)
    1 ↔ 1
    3(137505653-137598372)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX733599.12   -- 73.75(n)    BX733599.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.208382 Transcribed sequence with moderate similarity to protein more 76.96(n)    BG799803.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pde96
    Phosphodiesterase 9
    15(a)
    1 ↔ 1
    X(12679596-12790864)


    ENSEMBL Gene Tree for PDE9A (if available)
    TreeFam Gene Tree for PDE9A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PDE9A gene
    PDE4D2  PDE8B2  PDE4B2  PDE4C2  PDE7B2  PDE1B2  PDE1A2  PDE1C2  
    PDE7A2  PDE8A2  PDE4A2  
    7 SIMAP similar genes for PDE9A using alignment to 2 protein entries:     PDE9A_HUMAN (see all proteins):
    PDE4    PDE2A    PDE8A    PDE4C    PDE4D    PDE8B
    PDE5A

    PDE9A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PDE9A (see all 3254)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs802597351,2
    C--44071890(+) CTGCTG/TAGGCC 20 -- us2k10--------
    rs2280381,2
    C,F,A,H--44071939(+) CCTAAA/GAGTGC 20 -- us2k130Minor allele frequency- G:0.37MN NS EA NA WA CSA 4388
    rs798625011,2
    F--44072026(+) CTGGAC/TGCACA 20 -- us2k11Minor allele frequency- T:0.03WA 118
    rs38318781,2
    C--44072057(+) CTCCA-/CCCTCC 20 -- us2k10--------
    rs2006907021,2
    --44072060(+) CACCC-/TCCTGG 20 -- us2k10--------
    rs72829601,2
    C,F--44072089(+) CACCCC/GCCATG 20 -- us2k12Minor allele frequency- G:0.08CSA WA 120
    rs1875788891,2
    --44072118(+) TGGGGC/TTCTTG 20 -- us2k10--------
    rs2280391,2
    C,F,A,H--44072193(+) GCCAAC/TGAGCC 20 -- us2k1 tfbs329Minor allele frequency- T:0.34MN EA NS NA WA CSA 4033
    rs1488404071,2
    --44072276(+) AGCATC/TGGAAC 20 -- us2k10--------
    rs1483099321,2
    C--44072319(+) GCTCA-/CTTCAA
    TGAGCCGGG
    GACAC
    20 -- us2k10--------

    HapMap Linkage Disequilibrium report for PDE9A (44073746 - 44195619 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PDE9A (see all 25):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670844CNV Deletion23128226
    esv995110CNV Deletion20482838
    esv2666871CNV Deletion23128226
    esv2723569CNV Deletion23290073
    esv2723566CNV Deletion23290073
    esv2723567CNV Deletion23290073
    esv2723571CNV Deletion23290073
    esv2723568CNV Deletion23290073
    esv2723570CNV Deletion23290073
    esv2675114CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602973    OMIM disorders: --

    7 diseases for PDE9A:    About MalaCards
    sickle cell anemia    sickle cell disease    major depressive disorder    asthma
    prostatitis    thyroiditis    cerebritis


    PDE9A for disorders           About GeneDecksing

    Genetic Association Database (GAD): PDE9A
    Human Genome Epidemiology (HuGE) Navigator: PDE9A (5 documents)

    Export disorders for PDE9A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PDE9A gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with PDE9A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of PDE9A, a novel human cGMP-specific phosphodiesterase. (PubMed id 9624146)1, 2, 3, 9 Fisher D.A.... Cheng J.B. (J. Biol. Chem. 1998)
    2. Identification and characterization of a new human type 9 cGMP- specific phosphodiesterase splice variant (PDE9A5). Differential tissue distribution and subcellular localization of PDE9A variants. (PubMed id 14527714)1, 2, 9 Wang P.... Billah M.M. (Gene 2003)
    3. Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence. (PubMed id 9856478)1, 2, 9 Guipponi M.... Antonarakis S.E. (Hum. Genet. 1998)
    4. Specific use of start codons and cellular localization of splice variants of human phosphodiesterase 9A gene. (PubMed id 17090334)1, 2, 9 Rentero C. and Puigdomenech P. (BMC Mol. Biol. 2006)
    5. Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment response. (PubMed id 17008408)1, 4, 9 Wong M.L....Licinio J. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    6. Genome-wide association study of lung function decline in adults with and without asthma. (PubMed id 22424883)1, 4 Imboden M....Probst-Hensch N.M. (J. Allergy Clin. Immunol. 2012)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Association study of phosphodiesterase genes in the Sequenced Treatment Alternatives to Relieve Depression sample. (PubMed id 19214142)1, 4 Cabanero M....McMahon F.J. (Pharmacogenet. Genomics 2009)
    9. Crystal structure of phosphodiesterase 9 shows orientation variation of inhibitor 3-isobutyl-1-methylxanthine binding. (PubMed id 15210993)1, 2 Huai Q.... Ke H. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5152 HGNC: 8795 AceView: PDE9A Ensembl:ENSG00000160191 euGenes: HUgn5152
    ECgene: PDE9A Kegg: 5152 H-InvDB: PDE9A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PDE9A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PDE9A gene:
    Search GeneIP for patents involving PDE9A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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