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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
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