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FLASH GENE
Symbol TPM2 contributors: mct/npt - updated : 09-05-2018
HGNC name tropomyosin 2 (beta)
HGNC id 12011
Corresponding disease
AMCD1 arthrogryposis multiplex congenita, distal, type IA
NEM4 nemaline myopathy 4
SHHS2 Sheldon-Hall syndrome 2
Location 9p13.3      Physical location : 35.681.989 - 35.690.053
Synonym name beta-tropomyosin
Synonym symbol(s) DA1, TMSB, DA2B, AMCD1, HEL-S-273, NEM4, TROP2
DNA
TYPE functioning gene
STRUCTURE 8.07 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
motif
MAPPING cloned Y linked N status confirmed
Map pter - D9S165 - TPM2 - D9S1705 - D9S166 - cen
Authors Tiso (97)
RNA
TRANSCRIPTS type
text in chicken, exon 6B is excluded in mRNA from myoblasts and included in mRNA from myotubes (PMID: 20875406)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 1327 32.8 284 - 2015 25369766
  • Tpm2.2
  • 9 - 1182 32.8 284 - 2015 25369766
  • Tpm2.1
  • acts as a suppressor of growth on soft matrices by supporting proper rigidity sensing (PMID: 26619148)
  • 9 - 1182 - 284 - 2015 25369766
  • Tpm2.3
  • 9 - 1327 - 284 - 2015 25369766
  • Tpm2.4
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Reproductivefemale systemuterus  highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer dimer
    HOMOLOGY
    interspecies homolog to murine Tpm2
    Homologene
    FAMILY
  • tropomyosin family
  • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • actin-binding protein, which is localized head to tail along the length of the actin filament (Nilsson 2008)
  • playing a central role in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction
  • is a potential novel tumour suppressor gene in breast cancer
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AMCD1 , NEM4 , SHHS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    impaired the differentiation of MSCs by significant reduction of adipogenesis and osteogenesis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathycongenital
    administration of troponin activators may constitute a promising therapeutic approach to minimize generalized skeletal muscle weakness in Nemaline myopathy
    cancerreproductivebreast
    may represent a promising therapeutic gene target for breast cancer patients with chemoresistance
    ANIMAL & CELL MODELS
  • among the Tpm2 mutations associated with skeletal myopathies, the Tpm2E122K mutation was found to reduce Tpm2 expression and impair spatial learning and memory in rats