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FLASH GENE
Symbol PUM2 contributors: mct/npt/pgu - updated : 22-06-2016
HGNC name pumilio homolog 2 (Drosophila)
HGNC id 14958
Location 2p24.1      Physical location : 20.448.452 - 20.527.144
Synonym name pumilio-2
Synonym symbol(s) PUMH2, PUML2, KIAA0235, FLJ36528, MGC138251, MGC138253
DNA
TYPE functioning gene
STRUCTURE 103.73 kb     20 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
20 - 6111 114 1064 - 2005 15607425
20 - 6251 - 1008 - 2005 15607425
19 - 5877 - 985 - 2005 15607425
20 - 6002 - 929 - 2005 15607425
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticprogenitor cell Homo sapiens
Nervousneuron Homo sapiens
Reproductivegerm cell Homo sapiens
cell lineage
cell lines germ cell lines
fluid/secretion
at STAGE
physiological period embryo
Text stem cells
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • eight pumillo repeats mediating the association with RNA by packing together to form a right-handed superhelix that approximates
  • a half donut, highly conserved Pum RNA-binding domain, highly conserved PUM RNA-binding domain (RBD)
  • a highly conserved C-terminal RNA-binding domain, the homology domain (HD), composed of eight tandem repeats
  • mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • Puf family of RNA-binding proteins
  • Pumilio and FBF family
  • CATEGORY chaperone/stress , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,granule
    text
  • found in discrete RNA-containing particles in the somatodendritic compartment of polarized neurons
  • highly localized at the neuromuscular junction where ACHE mRNA concentrates
  • basic FUNCTION
  • required to support proliferation and self-renewal of stem cells by regulating the translation of key
  • transcripts
  • could also play an important role in translational regulation of embryogenesis and cell development and differentiation
  • regulates translation of specific mRNAs in morphogenesis and germ-line development of the flies by binding nucleotide motifs GUUGU (A) and AUUGUA (B) in 3'untranslated regions
  • plays crucial roles in fertility of many organisms acting as a repressor of translation, and causing infertility when mutated (Kusz 2007)
  • it is improbable that mutations of this gene significantly contribute to male infertility
  • implicated in controlling germ cell development through interactions with the RNA binding proteins deleted in azoospermia (DAZ), DAZ-like (DAZL) and BOULE
  • role in dendrite morphogenesis, synapse function, and translational control
  • does not repress differentiation of adipose-derived stem cell (ASC) but rather is involved in the positive control of ASCs division and proliferation
  • essential for synapse formation and maintenance in many species
  • RNA binding translational repressor
  • PUM2 interacting with transcripts encoding proteins specific to subsets of hippocampal synapses could be related with learning and memory processes in mammals
  • PUM1, PUM2 regulates the translation of the voltage-gated sodium conductance, leading to a concomitant adjustment in action potential firing
  • PUM1, PUM2 are potent repressors that serve important roles in stem cell maintenance, neurological processes, and embryonic development
  • PUM1, PUM2 increased double-stranded (ds) RNA binding affinity of DHX58, and likely facilitates viral RNA recognition by DHX58 through its chaperon-like function
  • plays an important role in translational regulation in the central nervous system (CNS), particularly for dendrite outgrowth and neuronal excitability
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with DAZ, DAZL and NANOS1 via its pumilio
  • repeats
  • interacting with SDAD1
  • interacts also with SNAPIN, a modulator of SNARE complex assembly, which is involved in vesicle trafficking
  • regulates translation of the EIF4E mRNA
  • binds to the ACHE transcripts in a complex, and regulates ACHE expression translationally at the neuromuscular synapse
  • PUM1 and PUM2 repress the translation of E2F3 by binding to the E2F3 3prime untranslated region (UTR) and also enhance the activity of multiple E2F3 targeting microRNAs
  • PUM2 is able to directly bind the predominant SCN8A expressed in pyramidal neurons and, through doing so, regulates translation of this key determinant of membrane excitability
  • conserved function of the PUM1, PUM2 RBD is to bind specific mRNAs, antagonize PABPC1 function, and promote deadenylation
  • cell & other
    REGULATION
    Other regulated by the motor nerve suggesting a trans-synaptic mechanism for locally regulating translation of specific proteins involved in modulating synaptic transmission, analogous to CNS synapses
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in drug-refractory temporal lobe epilepsy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS