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FLASH GENE
Symbol PPFIA2 contributors: mct/npt/pgu - updated : 02-09-2013
HGNC name protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2
HGNC id 9246
Location 12q21.31      Physical location : 81.653.355 - 82.153.109
Synonym name
  • liprin-alpha2
  • protein tyrosine phosphatase receptor type f
  • Synonym symbol(s) FLJ41378, MGC132572
    DNA
    TYPE functioning gene
    STRUCTURE 501.06 kb     33 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    FLJ23560 12q21.1 hypothetical protein FLJ23560 OSBPL8 12q14 oxysterol binding protein-like 8 LOC123031 12q21.1 similar to 60S ribosomal protein L21 HIP14 12q14-q15 similar to 60S ribosomal protein L21 CSRP2 12q21.1 cysteine and glycine-rich protein 2 LOC390346 12 similar to Ran-specific GTPase-activating protein (Ran binding protein 1) (RanBP1) E2F7 12q21.1 E2F transcription factor 7 NAV3 12q21.1 neuron navigator 3 MRPL11P3 12q21.2 neuron navigator 3 LOC390347 12 similar to ras related v-ral simian leukemia viral oncogene homolog A SYT1 12q15-q21 synaptotagmin I LOC338756 12q21.2 similar to hypothetical protein PAWR 12q21.2-q21.32 PRKC, apoptosis, WT1, regulator PPP1R12A 12q15-q21 protein phosphatase 1, regulatory (inhibitor) subunit 12A LOC120872 12q21.2 similar to ribosomal protein L7 LOC283308 12q21.2 similar to 60S ribosomal protein L26 FLJ90579 12q21.2 hypothetical protein FLJ90579 LOC387870 12 similar to protein tyrosine phosphatase, receptor type, Q isoform 1 precursor; glomerular mesangial cell receptor protein-tyrosine phosphatase PTPRQ 12q21.2 protein tyrosine phosphatase, receptor type, Q MYF6 12q21 myogenic factor 6 (herculin) MYF5 12q21 myogenic factor 5 LIN7A 12q21 lin-7 homolog A (C. elegans) FLJ21963 12q21.31 FLJ21963 protein PPFIA2 12q21.31 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 HSPC128 12q21.31 HSPC128 protein FLJ22789 12q21.31 hypothetical protein FLJ22789 DKFZp762A217 12q21.31 hypothetical protein DKFZp762A217 LOC390348 12 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC387871 12 LOC387871 NTT73 12q21.3-q21.4 LOC387871 LOC390349 12 similar to Small nuclear ribonucleoprotein Sm D2 (snRNP core protein D2) (Sm-D2) LOC144448 12q21.31 similar to CD63 antigen (AD1 antigen) FLJ12303 12q21 hypothetical protein FLJ12303 LOC283393 12q21.31 hypothetical LOC283393 CART1 12q21.3-q22 cartilage paired-class homeoprotein 1 PAMCI 12q21.32 peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor NTS 12q21 neurotensin HGNT-IV-H 12q21 UDP-N-acetylglucosamine:a-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV-homolog
    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
    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
  • 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
  • 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