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FLASH GENE
Symbol PDE11A contributors: mct/pgu - updated : 18-12-2018
HGNC name phosphodiesterase 11A
HGNC id 8773
Corresponding disease
PPNAD2 primary pigmented nodular adrenocortical disease-2
Location 2q31.2      Physical location : 178.487.978 - 178.973.066
Synonym name
  • cyclic nucleotide phosphodiesterase 11A1
  • dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A
  • cAMP and cGMP cyclic nucleotide phosphodiesterase 11A
  • Synonym symbol(s) PDE11A1, FLJ23693, MGC133355, MGC133356, PDE11A2, PDE11A3
    EC.number 3.1.4.17, 3.1.4.35
    DNA
    TYPE functioning gene
    STRUCTURE 485.09 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box) (TATA box)
    Binding site
    text structure Sp1 binding site
    MAPPING cloned Y linked N status provisional
    Physical map
    HOXD4 2q31 homeo box D4 HOXD3 2q31 homeo box D3 HOXD1 2q31-q37 homeo box D1 LOC150978 2q31.2 similar to 60S acidic ribosomal protein P1 LOC129841 2q31.2 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) MTX2 2q24.3-q31 metaxin 2 LOC375295 2q31.2 hypothetical gene supported by BC013438 FUCA1P 2q31-q32 fucosidase, alpha-L- 1, tissue pseudogene LOC391465 2 similar to STIP1 homology and U-Box containing protein 1; serologically defined colon cancer antigen 7; carboxy terminus of Hsp70p-interacting protein; heat shock protein A binding protein 2 (c-terminal) LOC150739 2q31.2 similar to keratin 8; cytokeratin 8; keratin, type II cytoskeletal 8 hnRNPA3 2q31.2 heterogeneous nuclear ribonucleoprotein A3 NFE2L2 2q31 nuclear factor (erythroid-derived 2)-like 2 DKFZp451M2119 2q31.2-q31.3 hypothetical protein DKFZp451M2119 AGPS 2q33 alkylglycerone phosphate synthase FLJ30990 2q31.3 hypothetical protein FLJ30990 FLJ13946 2q31.3 hypothetical protein FLJ13946 PDE11A 2q31 phosphodiesterase 11A HCP9 2q31.2 cytochrome c, somatic pseudogene DRB1 2q31.3 developmentally regulated RNA-binding protein 1 OSBPL6 2q31-q32.1 oxysterol binding protein-like 6 PRKRA 2q31.2 protein kinase, interferon-inducible double stranded RNA dependent activator NUDCP2 2q31 nuclear distribution gene C homolog (A. nidulans) pseudogene 2 FKBP7 2q31.2 FK506 binding protein 7 PLEKHA3 2q31.2 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 TTN 2q24.3-q31 titin FLJ39502 2q31.3 hypothetical protein FLJ39502
    RNA
    TRANSCRIPTS type messenger
    text four splice variants differing in the length of their N termini were found
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 7786 - 489 - 2009 19671705
    also called PDE11A1, isoform 1
    19 splicing 1869 - 575 ? 2009 19671705
    also called PDE11A2, isoform 2
    21 splicing 8316 - 683 specific of testis prostate 2009 19671705
    also called PDE11A3, isoform 3
    20 splicing 9285 - 933 specific of testis, prostate, also expressed in adrenal gland 2009 19671705
  • also called PDE11A4, isoform 4
  • exons 3 to 22
  • mutated in adrenocortical hyperplasia
  • contain one or more GAF (cGMP-binding phosphodiesterase)
  • inhibitory effect of the N-terminal region on the affinity of the catalytic domain for both substrates and inhibitors and the first to define the quaternary structure and the regions that contribute to this structure within the human PDE11A family
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainlimbic systemhippocampus highly Homo sapiens
    Reproductivemale systemprostate  predominantly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal predominantly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal GAF domain of the cytochrome C pseudogene, that vary in length and amino acid sequence, a tandem of so-called GAF domains in its N-terminal regulatory regions
  • a GAF domain
  • a conserved C-terminal catalytic domain that hydrolyzes cAMP and cGMP
  • HOMOLOGY
    interspecies homolog to Drosophila CG10231
    Homologene
    FAMILY
  • cyclic nucleotide phosphodiesterase family
  • GAP/PDE family
  • CATEGORY enzyme , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • dual-specificity phosphodiesterase that binds both cAMP and cGMP that is expressed in adrenal cortex
  • predispose to a variety of lesions (beyond micronodular adrenocortical hyperplasia) and may contribute to the development of these tumors in the general population
  • may have a role in the pain pathway of migraine as well as trigeminal neuralgia and trigeminal autonomic cephalalgias
  • plays a significant role in regulating brain function
  • genetic modifying factor for the development of testicular and adrenal tumors in patients with germline PRKAR1A mutation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by by tadalafil partially
    ASSOCIATED DISORDERS
    corresponding disease(s) PPNAD2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH   loss of function
    of PDE11A4 in adrenocortical hyperplasia and Cushing syndrome, and patients with micronodular adrenocortical hyperplasia
    constitutional       loss of function
    in bilateral adrenocortical hyperplasia (BAH)
    Susceptibility
  • to acromegaly
  • to prostatic cancer
  • Variant & Polymorphism other
  • variants in a subset of acromegalic patients, which was only slightly more frequent than in control (variants might only marginally contribute to the development of somatotropinomas)
  • PDE11A-inactivating genetic alterations may play a role in susceptibility to prostatic cancer
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    PDE11A KO mice exhibit several subtle psychiatric-disease–related phenotypes indicative of ventral hippocampus dysfunction