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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
    Physical map
    SMBP 10q24.2 SM-11044 binding protein PIK3AP1 10q24.2 phosphoinositide-3-kinase adaptor protein 1 LOC283340 10q24.2 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein LOC387709 10 LOC387709 C10orf12 10q24.2 chromosome 10 open reading frame 12 SLIT1 10q23.3-q24 slit homolog 1 (Drosophila) ARHGAP19 10q24.2 Rho GTPase activating protein 19 FRAT1 10q24.1 frequently rearranged in advanced T-cell lymphomas FRAT2 10q23-q24.1 frequently rearranged in advanced T-cell lymphomas 2 KIAA0690 10q23.33 frequently rearranged in advanced T-cell lymphomas 2 PGAM1 10q25.3 phosphoglycerate mutase 1 (brain) CSL4 10q24 exosomal core protein CSL4 ZDHHC16 10q24.1 zinc finger, DHHC domain containing 16 MMS19L 10q24-q25 MMS19-like (MET18 homolog, S. cerevisiae) FLJ11807 10q24.2 hypothetical protein FLJ11807 ANKRD2 10q23.31-q23.32 ankyrin repeat domain 2 (stretch responsive muscle) LOC112817 10q24.2 hypothetical protein BC011916 LOC118812 10q24.2 44050 protein PI4KII 10q24 44050 protein VIP32 10q24.2 vasopressin-induced transcript MGC4415 10q24.2 hypothetical protein MGC4415 FLJ32919 10q24.2 hypothetical protein FLJ32919 SFRP5 10q24.1 secreted frizzled-related protein 5 CRTAC1 10q22 cartilage acidic protein 1 C10orf28 10q24.2 chromosome 10 open reading frame 28 LOXL4 10q24 lysyl oxidase-like 4 C10orf33 10q24.2 chromosome 10 open reading frame 33 HPS1 10q23.1-q23.3 Hermansky-Pudlak syndrome 1 HPSE2 10q23-q24 heparanase 2
    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
    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