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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
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