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FLASH GENE
Symbol PDE9A contributors: mct - updated : 18/10/2008
HGNC name phosphodiesterase 9A
HGNC id 8795
Location 21q22.3      Physical location : 44.073.861 - 44.195.616
Synonym name
  • CGMP-specific 3',5'-cyclic phosphodiesterase type 9
  • high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A
  • Synonym symbol(s) HSPDE9A2, FLJ90181
    EC.number 3.1.4.35
    DNA
    TYPE functioning gene
    STRUCTURE 121.76 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    MAPPING cloned Y linked N status provisional
    Physical map
    C21orf129 21q22.3 chromosome 21 open reading frame 129 ANKRD3 21q22.3 ankyrin repeat domain 3 PRDM15 21q22.3 PR domain containing 15 LOC388827 21 similar to ZNF298 C21orf25 21q22.3 chromosome 21 open reading frame 25 LOC388828 21 similar to C21orf258 ZNF295 21q22.3 zinc finger protein 295 C21orf121 21 chromosome 21 open reading frame 121 C21orf128 21q22.3 chromosome 21 open reading frame 128 FLJ36335 21q22.3 hypothetical protein FLJ36335 ABCG1 21q22.3 ATP-binding cassette, sub-family G (WHITE), member 1 TFF3 21q22.3 trefoil factor 3 (intestinal) TFF2 21q22.3 trefoil factor 2 (spasmolytic protein 1) TFF1 21q22.3 trefoil factor 1 (breast cancer, estrogen-inducible sequence expressed in) TMPRSS3 21q22.3 transmembrane protease, serine 3 UBASH3A 21q22.3 ubiquitin associated and SH3 domain containing, A TSGA2 21q22.3 testes specific A2 homolog (mouse) SLC37A1 21q22.3 solute carrier family 37 (glycerol-3-phosphate transporter), member 1 PDE9A 21q22.3 phosphodiesterase 9A WDR4 21q22.3 WD repeat domain 4 NDUFV3 21q22.3 NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa PKNOX1 21q22.3 PBX/knotted 1 homeobox 1 CBS 21q22.3 cystathionine-beta-synthase U2AF1 21q22.3 U2(RNU2) small nuclear RNA auxillary factor 1 MRPL51P2 21q22.3 U2(RNU2) small nuclear RNA auxillary factor 1 LOC388829 21 LOC388829 CRYAA 21q22.3 crystallin, alpha A SNF1LK 21q22.3 SNF1-like kinase C21orf125 21 chromosome 21 open reading frame 125 C21orf84 21q22.1 chromosome 21 open reading frame 84 HSF2BP 21q22.3 heat shock transcription factor 2 binding protein RPL31P1 21q22.3 ribosomal protein L31 pseudogene 1 H2BFS 21q22.3 H2B histone family, member S KIAA0179 21q22.3 H2B histone family, member S
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 2103 68.4 593 - 2003 14527714
  • also called variant 1/isoform a
  • only in the nucleus
  • 19 splicing 1923 61.3 533 - 2003 14527714
  • also called variant 2/isoform b
  • lacking exon 5
  • 17 splicing 1774 53.6 466 - 2003 14527714
  • also called variant 3/isoform c
  • lacking exons 2,3,5
  • different start site in exon 1
  • 16 splicing 1719 53.6 465 - 2003 14527714
  • also called variant 4/isoform d
  • lacking exons 2,3,5,6
  • 18 splicing 1852 - 492 - 2003 14527714
    also called variant 6/isoform f
    19 splicing 1944 - 540 highly expressed in spleen, lymph node and thymus, and in T cells 2003 14527714
  • also called variant 5/isoform e
  • lack exons 2 and 5
  • exclusively in the cytoplasm
  • 16 splicing 1730 - 386 - 2003 14527714
    also called variant 7/isoform g
    17 splicing 1910 - 386 - 2003 14527714
    also called variant 8/isoform g
    18 splicing 1845 - 507 - 2003 14527714
    also called variant 9/isoform h
    16 splicing 1753 - 459 - 2003 14527714
    also called variant 12/isoform k
    16 splicing 1675 - 433 - 2003 14527714
    also called variant 10/isoform i
    16 splicing 1634 - 376 - 2003 14527714
    also called variant 11/isoform j
    17 splicing 1797 - 491 - 2003 14527714
    also called variant 13/isoform l
    17 splicing 1790 - 386 - 2003 14527714
    also called variant 14/isoform g
    18 - 1954 - 526 - 2003 14527714
    also called variant 16/isoform m
    14 - 1590 - 376 - 2003 14527714
    also called variant 15/isoform j
    19 - 2032 - 552 - 2003 14527714
    also called variant 17/isoform n
    19 - 2025 - 567 - 2003 14527714
    also called variant 18/isoform o
    18 - 1853 - 386 - 2003 14527714
    also called variant 19/isoform g
    18 - 1977 - 386 - 2003 14527714
    also called variant 20/isoform g
    EXPRESSION
    Rna function mRNA expressed in all cortical areas studied (insular cortex, entorhinal cortex and visual cortex), and in putamen
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Cardiovascularheart    
    Digestiveintestinelarge intestinecolon highly
    Nervousbrainhindbraincerebellumcerebellar cortex  Homo sapiens
     nerve   highly Homo sapiens
    Reproductivemale systemprostate  highly
    Urinarykidney    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, kidney
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal regulatory domain
  • a C terminal catalytic domain
  • two putative divalent metal sites
  • HOMOLOGY
    Homologene
    FAMILY
  • cyclic nucleotide phosphodiesterase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nuclear envelope
    basic FUNCTION
  • metal ion-dependent enzymes that regulate cellular signaling by metabolic inactivation of the ubiquitous second messengers cAMP and cGMP
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Mn2+ or Mg2+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    significantly higher in the reticulocytes and neutrophils of sickle cell disease individuals, compared to control cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target since elevation of haematopoietic intracellular cGMP may be beneficial in SCD (sickle cell disease), the relatively limited tissue distribution of PDE9A suggests that it could represent a novel drug target for SCD
    ANIMAL & CELL MODELS