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FLASH GENE
Symbol XIRP2 contributors: mct - updated : 21-06-2012
HGNC name xin actin-binding repeat containing 2
HGNC id 14303
Location 2q24.3      Physical location : 167.759.974 - 168.116.259
Genatlas name myomaxin
Synonym name
  • cardiomyopathy associated 3
  • beta-xin
  • xin repeat protein 2
  • xeplin
  • Synonym symbol(s) CMYA3, FLJ39111, FLJ40200, MYOMAXIN
    DNA
    TYPE functioning gene
    STRUCTURE 371.27 kb     7 Exon(s)
    regulatory sequence
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 12689 - 3549 - 2006 17046827
    10 - 3302 - 938 - 2006 17046827
    11 - 3401 - 971 - 2006 17046827
    9 - 12287 - 3327 - 2006 17046827
    8 - 2908 - 716 - 2006 17046827
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
     mouth    
    Respiratoryrespiratory tractlarynx   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac moderately Homo sapiens
    Muscularstriatumskeletal specific Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 28 Xin repeats with properties identical to those of Xin (
  • HOMOLOGY
    Homologene
    FAMILY
  • actin-binding proteins family
  • muscle-specific, actin-binding Xin gene family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • sarcoplasmic reticulum
  • characterization of CMYA5 and XIRP2 revealed localization of their protein products to the muscle costamere
  • in adult muscle, XIRP1 and XIRP2 are concentrated at attachment sites of myofibrils to the membrane
  • basic FUNCTION
  • Xin-related alpha-actinin-interacting protein, that functions directly downstream of MEF2A at the peripheral Z-disc complex in striated muscle, potentially playing a role in regulating cytoarchitectural integrity
  • important effector of the angiotensin II (AGT) signaling pathway in the heart
  • essential roles likely in postnatal heart growth and survival
  • during development XIRP1, XIRP2 are localized to immature myofibrils together with their binding partner, filamin C, indicating an involvement of both proteins in myofibril assembly
  • role of XIRP1 and XIRP2(together with their interaction partners) in myofibril assembly and after muscle damage
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    MEF2A-XIRP2 pathway that functions downstream of AGT signaling to modulate its pathological effects in the heart
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • transcriptional target of MEF2A
  • AGT activates XIRP2 expression by stimulating MEF2A transcriptional activity
  • interacts with the sarcomeric Z-disc protein, alpha-actinin-2
  • XIRP2 and CMYA5 are MEF2A-dependent genes that encode costamere-localized proteins
  • temporally restricted interaction of Xin-repeat proteins (XIRP1, XIRP2) with nebulin/nebulette during early stages of myofibril development that is lost upon further maturation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in the absence of Agt, adult Xirp2 hypomorphic mice displayed cardiac hypertrophy and increased beta myosin heavy chain expression