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FLASH GENE
Symbol PPFIA2 contributors: mct/npt/pgu - updated : 06-03-2024
HGNC name protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2
HGNC id 9246
RNA
TRANSCRIPTS type messenger
text alternative splicing occurs for exon 6, leading to the presence or the lack of a sequence in the transcript immediately downstream the RIM-interaction domain (PMID: 19013515)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
32 - 5379 - 1257 - 2009 19013515
31 - 5424 - 1247 - 2009 19013515
31 - 5379 - 1232 - 2009 19013515
31 - 5265 - 1236 - 2009 19013515
32 - 5310 - 1251 - 2009 19013515
29 - 5242 - 1152 - 2009 19013515
29 - 5254 - 1156 - 2009 19013515
20 - 3892 - 783 - 2009 19013515
22 - 3917 - 443 - 2009 19013515
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   predominantly Homo sapiens
 brainforebraincerebral cortex   Homo sapiens
 brainhindbraincerebellum   Homo sapiens
 brainlimbic systemhippocampus   Homo sapiens
 brainbasal nucleistriatum   Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text eyes
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal coiled coil domain for dimerization
  • a PFIH2 domains
  • three SAM (Sterile alpha motif) domains
  • C-terminal binding domain for GRIP proteins (VRTYSC motif)
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to C.elegans celiprin alpha
    intraspecies paralog to LAR-interacting protein LIP alpha 2
    Homologene
    FAMILY
  • liprin family
  • liprin-alpha subfamily
  • CATEGORY enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text localized in axons and dendrites, in agreement with their association with pre- and postsynaptic protein complexes
    basic FUNCTION
  • playing a role in androgen responsive human prostate cancer cell line as well as human prostate cells
  • plays a crucial role in synapse assembly and function
  • play three important roles: first, in the assembly, organization, and function of presynaptic active zones; second, in the development and maintenance of dendritic spines and excitatory synapses; and third, in vesicular trafficking
  • liprins can mediate assembly of target proteins into large protein complexes capable of regulating numerous cellular activities
  • plays an important role in maintaining active zone dynamics to modulate synaptic efficacy in response to changes in network activity
  • plays an important role in nonneuronal cells by mediating the Focal adhesions (FAs) turnover during integrin-mediated migration
  • PPFIA2 determines the active zone protein distribution in protein condensates
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • LIN7-CASK-PPFIA2 complex recruits components of the synaptic release machinery to adhesive proteins of the active zone
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding-membrane distal D2 PTPase domain of the LAR family of PTPase (PTPRD, PTPRF, PTPRS)
  • interaction between PPFIA2 and CASK is unique to vertebrates, implying that the PPFIA2/CASK interaction is likely to regulate higher-order brain functions in mammals
  • promotes the presynaptic recruitment and turnover of RIMS1/CASK to facilitate synaptic transmission
  • Oligomerized PPFIA2 coiled coils alter the phase separation of ERC1
  • CASK-PPFIA2 interaction may be involved in the pathophysiology of cerebellar hypoplasia in MICPCH syndrome
  • cell & other
    REGULATION
    repressed by androegns in prostate cancer
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in prostate cancer (downregulated by androgens)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS