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FLASH GENE
Symbol TNNT3 contributors: mct - updated : 12-04-2014
HGNC name troponin T type 3 (skeletal, fast)
HGNC id 11950
Corresponding disease
AMCD2B arthrogryposis multiplex congenita, distal, type IIB
Location 11p15.5      Physical location : 1.940.798 - 1.959.935
Synonym name
  • troponin T3, skeletal, fast
  • beta TnTF
  • Synonym symbol(s) TNTF, AMCD2B, DA2B, FSSV, DKFZp779M2348, ftnt, TNT3
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    text downstream and in tandem with TNNT1
    STRUCTURE 19.14 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    MGC3234 11p15.5 hypothetical protein MGC3234 AP2A2 11p15.5 adaptor-related protein complex 2, alpha 2 subunit MUC6 11p15.5 mucin 6, gastric LOC387738 11 similar to secreted gel-forming mucin LOC338731 11p15.5 hypothetical LOC338731 LOC387739 11 LOC387739 LOC387740 11 similar to Mucin 2 precursor (Intestinal mucin 2) MUC5B 11p15.5 mucin 5, subtype B, tracheobronchial TOLLIP 11p15.5 toll interacting protein STK29 11p15.5 serine/threonine kinase 29 HCCA2 11p15.5 HCCA2 protein DUSP8 11p15.5 dual specificity phosphatase 8 LOC387741 11 hypothetical gene supported by AK124823 LOC387742 11 hypothetical gene supported by AK124823 CTSD 11p15.5 cathepsin D (lysosomal aspartyl protease) LOC255701 11p15.5 similar to large subunit ribosomal protein L36a LOC390029 11 similar to A-X actin SYT8 11p15.5 synaptotagmin VIII TNNI2 11p15.5 troponin I, skeletal, fast LSP1 11p15.5 lymphocyte-specific protein 1 TNNT3 11p15.5 troponin T3, skeletal, fast MRPL23 11p15.5 mitochondrial ribosomal protein L23 LOC387743 11 LOC387743 H19 11p15.5 H19, imprinted maternally expressed untranslated mRNA IGF2 11p15.5 insulin-like growth factor 2 (somatomedin A) IGF2AS 11p15.5 insulin-like growth factor 2, antisense INS 11p15.5 insulin TH 11p15.5 tyrosine hydroxylase ASCL2 11p15.5 achaete-scute complex-like 2 (Drosophila) C11orf21 11p15.5 chromosome 11 open reading frame 21 PHEMX 11p15.5 pan-hematopoietic expression CD81 11p15.5 CD81 antigen (target of antiproliferative antibody 1) TSSC4 11p15.5 tumor suppressing subtransferable candidate 4 TRPM5 11p15.5 transient receptor potential cation channel, subfamily M, member 5 KCNQ1 11p15.5 potassium voltage-gated channel, KQT-like subfamily, member 1 CDKN1C 11p15.5 cyclin-dependent kinase inhibitor 1C (p57, Kip2) HSA404617 11p15.5 BWRT protein SLC22A1LS 11p15.5 solute carrier family 22 (organic cation transporter), member 1-like antisense SLC22A1L 11p15.5 solute carrier family 22 (organic cation transporter), member 1-like PHLDA2 11p15.5 pleckstrin homology-like domain, family A, member 2 NAP1L4 11p15.5 nucleosome assembly protein 1-like 4
    RNA
    TRANSCRIPTS type messenger
    text 64 isoforms generated by a combinatorial splicing involving exons 4-8
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 1217 30.5 258 - 1999 1036420
    15 - 1193 29.6 250 - 1999 1036420
    16 - 1211 30.2 256 - 1999 1036420
    15 - 1193 29.6 250 - 1999 1036420
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmooth  specific Homo sapiens
    Muscularstriatumcardiac specific Homo sapiens
    Muscularstriatumskeletal specific Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text highly in fast skeletal muscles
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • both a nuclear localization signal
  • and a DNA-binding domain, which may mediate nuclear/nucleolar signaling and muscle cell apoptosis
  • conjugated PhosphoP
    HOMOLOGY
    interspecies ortholog to murine Tnnt3
    homolog to C.elegans Y49F6B.2
    Homologene
    FAMILY
  • troponin T family
  • CATEGORY motor/contractile , regulatory , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • involved in the attachment of the complex to tropomyosin and troponin I
  • involved in the regulation of striated muscle contraction
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , locomotion
    text fast skeletal muscles development
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of the troponin complex forming the calcium-sensitive molecular switch that regulates striated muscle contraction in response to modifications in intracellular concentration
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to tropomyosin
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AMCD2B
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • aberrant TNNT3 represents a biological marker of muscle phenotype severity and disease progressionin FSHMD1A
  • Therapy target
    ANIMAL & CELL MODELS