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FLASH GENE
Symbol PDE11A contributors: mct/pgu - updated : 18-12-2018
HGNC name phosphodiesterase 11A
HGNC id 8773
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