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FLASH GENE
Symbol ANKRD2 contributors: mct - updated : 03-09-2018
HGNC name ankyrin repeat domain 2 (stretch responsive muscle)
HGNC id 495
Location 10q24.2      Physical location : 99.332.255 - 99.343.639
Synonym name
  • ankyrin-repeat protein
  • skeletal muscle ankyrin repeat protein
  • Synonym symbol(s) AARP, ARPP, MGC104314
    DNA
    TYPE functioning gene
    STRUCTURE 11.40 kb     9 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
    9 - 1462 39.7 360 - 2000 10873377
    8 - 1380 36.1 327 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   predominantly Homo sapiens
    Nervousbrain   moderately
    Reproductivemale systemprostate  moderately
    Urinarykidneytubuleconvoluted tubuledistal tubulemoderately Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Muscularstriatumcardiac highly Homo sapiens
    Muscularstriatumskeletal highly Homo sapiens
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • ATP/GTP binding domain
  • a nuclear localization signal (NLS)
  • two PEST protein-destabilization motif
  • 132 amino acid ankyrin repeat region (four ankyrin-like repeat motifs)
  • proline-rich region at the C terminus
  • HOMOLOGY
    interspecies ortholog to murine Ankrd2
    intraspecies homolog to CARP
    Homologene
    FAMILY
  • muscle ankyrin repeat protein (MARP) family
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    text
  • localized mainly in the I-band of striated muscle, and may translocate from the I-band to the nucleus in response to muscle damage
  • localized in mitochondria and nuclei in both the normal distal renal tubule and oncocytoma
  • sarcomere-associated protein that can also localize in the nucleus
  • basic FUNCTION
  • putatively important in skeletal muscle hypertrophy
  • may play both important structural and gene regulatory roles in skeletal muscle
  • playing a specific role in cardiac ventricle as well as skeletal muscles
  • might function as shuttle proteins between the cytoplasm and nucleus, likely sending information to the nucleus concerning the changes in the structure or function of the contractile machinery
  • gives an important contribution to the coordination of proliferation and apoptosis during myogenic differentiation mainly through the TP53 network
  • involved in a mechano-signaling pathway that links myofibrillar stress response to muscle gene expression
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ANKRD2 and ID3 cooperatively inhibit myoblast differentiation by physical interaction
  • cell & other
    REGULATION
    Other testosterone regulates the expression of ANKRD1 and ANKRD2
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in slows fibers of dystrophic muscle
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker useful marker for rhabdomyosarcoma
    Therapy target
    ANIMAL & CELL MODELS