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FLASH GENE
Symbol BAIAP2 contributors: mct/npt/pgu - updated : 12-06-2010
HGNC name BAI1-associated protein 2
HGNC id 947
Location 17q25.3      Physical location : 79.008.946 - 79.091.232
Synonym name
  • insulin receptor tyrosine kinase substrate p53
  • brain specific angiogenesis (BAI1) inhibitor-associated protein 2
  • fas ligand-associated factor 3
    • Synonym symbol(s) IRSP53, BAP2, IRS-58, FLAF3, IRSp53/58
    DNA
    TYPE functioning gene
    STRUCTURE 82.29 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    KIAA1554 17q25.3 KIAA1554 protein FLJ35220 17q25.3 hypothetical protein FLJ35220 LOC388426 17 hypothetical gene supported by AK090819 NPTX1 17q25.2 neuronal pentraxin I LOC201259 17q25.3 similar to 60S ribosomal protein L32 raptor 17q25.3 raptor LOC390817 17 similar to 60S ribosomal protein L12 FLJ11749 17q25.3 hypothetical protein FLJ11749 LOC284180 17q25.3 hypothetical LOC284180 BAIAP2 17q25 BAI1-associated protein 2 LOC388427 17 LOC388427 LOC388428 17 hypothetical gene supported by AK126811 AZI1 17q25.3 hypothetical gene supported by AK126811 FLJ31528 17q25.3 hypothetical protein FLJ31528 LOC284184 17q25.3 hypothetical LOC284184 MGC15523 17q25.3 hypothetical protein MGC15523 FLJ39421 17q25.3 hypothetical protein FLJ39421 FLJ38792 17q25.3 hypothetical protein FLJ38792 LOC388429 17 LOC388429 LOC146701 17q25.3 hypothetical LOC146701 LOC388430 17 LOC388430 LOC339226 17q25.3 hypothetical LOC339226 KIAA1447 17q25.3 KIAA1447 protein FLJ23058 17q25.3 hypothetical protein FLJ23058 LOC388431 17 LOC388431 ACTG1 17q25 actin, gamma 1 FSCN2 17q25 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) FLJ22175 17q25.3 hypothetical protein FLJ22175 NPL4 17qter hypothetical protein FLJ22175 OCSP 17q25.3 oculospanin PDE6G 17q21.1 phosphodiesterase 6G, cGMP-specific, rod, gamma LOC339229 17q25.3 hypothetical protein LOC339229 MGC16597 17q25.3 similar to RIKEN cDNA 3110023B02 LOC339231 17q25.3 hypothetical protein LOC339231 HGS 17q25 hepatocyte growth factor-regulated tyrosine kinase substrate MRPL12 17q25 mitochondrial ribosomal protein L12 SLC25A10 17q25.3 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 splicing 3188 58 521 - 1999 10343108
    15 splicing 3352 58 520 ubiquitous 1999 10343108
    short 3'utr
    15 splicing 2894 60.9 552 - 1999 10343108
    14 - 3306 - 534 - 1999 10343108
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal inverse-BAR (Bin-amphipysin-Rvs) domain (IRSp53/MIM homology domain [IMD])
  • internal SH3 domain interacting with the proline rich fragment of BAI1 and with DRPA, associating with actin regulatory proteins, including EPS8
  • a GUK domain
  • two WW (phosphoserine- or phosphothreonine binding) domains
  • multiple PDZ domains
  • a MIM homology domain (IMD) that bundles actin filaments and interacts with the small GTPase Rac
  • an internal SH3 domain that associates with actin regulatory proteins, including Eps8
    • HOMOLOGY
    interspecies homolog to murine Baiap2
    Homologene
    FAMILY
  • MAGUK (membrane-associted guanylase kinase homolog) family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text colocalizing with BAI1
    basic FUNCTION
  • involved in neuronal growth-cone guidance
  • functioning as a insulin receptor tyrosine kinase substrate and may be having a role for insulin in the central nervous system
  • scaffold protein that bundles actin filaments and interacts with the small GTPase Rac
  • plays a role in filopodium dynamics by coupling actin elongation with membrane protrusion
  • having an unique role as transducer of signalling, linking the protruding membrane to the underlying actin cytoskeleton
  • BAIAP2 and PPP1R9B regulate localized RAC1 activation by TIAM1
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text neuronal development
    PATHWAY
    metabolism
    signaling
    a component
  • formation of a NCKIPSD-BAIAP2 complex mediated through direct association of the proline-rich domain (PRD) of NCKIPSD with the SH3 domain of BAIAP2
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BAI1
  • binding partner of LIN7B
  • binding partner for KANK1, a kidney ankyrin repeat-containing protein that functions to suppress cell proliferation and regulate the actin cytoskeleton
  • binding partner of NCKIPSD
  • binds to 14-3-3 after phosphorylation in a region that lies between the CRIB and SH3 domains (association inhibiting binding of the BAIAP2 SH3 domain to proteins such as WAVE2 and EPS8 and also prevents Cdc42-GTP interaction)
  • two TIAM1-interacting proteins in fibroblasts, insulin receptor substrate protein 53 kDa (BAIAP2) and PPP1R9B
    • cell & other
    REGULATION
    repressed by KANK1 (negatively regulates the formation of lamellipodia by inhibiting the interaction between Rac1 and BAIAP2)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to adulthood Attention-deficit/hyperactivity disorder (ADHD)
    Variant & Polymorphism other polymorphisms increasing the risk of adulthood ADHD
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS