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TNNT3 Gene

protein-coding   GIFtS: 64
GCID: GC11P001940

Troponin T Type 3 (Skeletal, Fast)

(Previous names: troponin T3, skeletal, fast)
  See TNNT3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Troponin T Type 3 (Skeletal, Fast)1 2     beta-TnTF2
Fast Skeletal Muscle Troponin T2 3     Troponin T, Fast Skeletal Muscle2
fTnT2 3     Troponin-T3, Skeletal, Fast2
fast1     Beta-TnTF3
skeletal1     TnTf3
Troponin T3, Skeletal, Fast1     AMCD2B5
troponin-T31     DA2B5
TNTF2     FSSV5
Beta TnTF2     

External Ids:    HGNC: 119501   Entrez Gene: 71402   Ensembl: ENSG000001305957   OMIM: 6006925   UniProtKB: P453783   

Export aliases for TNNT3 gene to outside databases

Previous GC identifers: GC11M000837 GC11P002023 GC11P001900 GC11P001908 GC11P001898 GC11P001710


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TNNT3 Gene:
The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased
Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin
dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin
head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein
subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction.
Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated
activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific
isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal
troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants
encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between
fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but
their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis
multiplex congenita type 2B (DA2B). (provided by RefSeq, Oct 2009)

GeneCards Summary for TNNT3 Gene:
TNNT3 (troponin T type 3 (skeletal, fast)) is a protein-coding gene. Diseases associated with TNNT3 include tnnt3-related arthrogryposis multiplex congenita, distal, type 2b, and congenital contractures. GO annotations related to this gene include actin binding and tropomyosin binding. An important paralog of this gene is TNNT1.

UniProtKB/Swiss-Prot: TNNT3_HUMAN, P45378
Function: Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which
confers calcium-sensitivity to striated muscle actomyosin ATPase activity

Gene Wiki entry for TNNT3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TNNT3 gene promoter:
         SRF   Max1   CUTL1   AREB6   HEN1   CREB   deltaCREB   ARP-1   c-Myc   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTNNT3 promoter sequence
   Search Chromatin IP Primers for TNNT3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TNNT3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

TNNT3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNNT3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P001940:  view genomic region     (about GC identifiers)

Start:
1,940,792 bp from pter      End:
1,959,936 bp from pter
Size:
19,145 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TNNT3_HUMAN, P45378 (See protein sequence)
Recommended Name: Troponin T, fast skeletal muscle  
Size: 269 amino acids; 31825 Da
Sequence caution: Sequence=AAH50446.1; Type=Erroneous initiation;
Secondary accessions: A8MQ76 A8MSW1 B3KPX3 B7WP64 B7ZL26 B7ZVV9 Q12975 Q12976 Q12977 Q12978
Q17RG9 Q6FH29 Q6N056 Q86TH6
Alternative splicing: 7 isoforms:  P45378-1   P45378-2   P45378-3   P45378-4   P45378-5   P45378-6   P45378-7   (Minor isoform detected in approximately 1% of cDNA clones)

Explore the universe of human proteins at neXtProt for TNNT3: NX_P45378

Explore proteomics data for TNNT3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TNNT3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001036245.1  NP_001036246.1  NP_001036247.1  NP_006748.1  

    ENSEMBL proteins: 
     ENSP00000278317   ENSP00000415614   ENSP00000370969   ENSP00000371001   ENSP00000370991  
     ENSP00000370975   ENSP00000344870   ENSP00000370970   ENSP00000380468   ENSP00000380471  
     ENSP00000413203   ENSP00000370973   ENSP00000370960   ENSP00000353815   ENSP00000370961  
    Reactome Protein details: P45378

    TNNT3 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR027707 TNNT
     IPR001978 Troponin
     IPR027708 Tnnt3

    Graphical View of Domain Structure for InterPro Entry P45378

    ProtoNet protein and cluster: P45378

    1 Blocks protein domain: IPB001978 Troponin

    UniProtKB/Swiss-Prot: TNNT3_HUMAN, P45378
    Similarity: Belongs to the troponin T family


    Find genes that share domains with TNNT3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TNNT3_HUMAN, P45378
    Function: Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which
    confers calcium-sensitivity to striated muscle actomyosin ATPase activity

         Genatlas biochemistry entry for TNNT3:
    troponin T3,component of the troponin complex forming the calcium-sensitive molecular switch that regulates
    striated muscle contraction in response to modifications in intracellular concentration,fast skeletal
    muscle,organized in pair with TNNI2,involved in the attachment of the complex to tropomyosin and troponin I,not
    imprinted in humans

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779contributes to actin binding IDA17194691
    GO:0005523tropomyosin binding IMP8987992
    GO:0030172troponin C binding IPI8987992
    GO:0030899contributes to calcium-dependent ATPase activity IDA8987992
    GO:0031013troponin I binding IPI15507453
         
    Find genes that share ontologies with TNNT3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TNNT3:
     Synthetic lethal with Ras 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tnnt3):
     cardiovascular system  growth/size/body  limbs/digits/tail  liver/biliary system  mortality/aging 
     muscle  renal/urinary system  skeleton 

    Find genes that share phenotypes with TNNT3           About GenesLikeMe

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005861troponin complex IDA17194691

    Find genes that share ontologies with TNNT3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TNNT3 About    
    See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82


    Find genes that share SuperPaths with TNNT3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for TNNT3
        Striated Muscle Contraction

    1 Reactome Pathway for TNNT3
        Striated Muscle Contraction


        Pathway & Disease-focused RT2 Profiler PCR Array including TNNT3: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TNNT3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TNNT3 (P453782, 3 ENSP000002783174) via UniProtKB, MINT, STRING, and/or I2D (see all 98)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HAP1P542572, 3MINT-63762 I2D: score=4 
    NUDT3O959892, 3MINT-8265015 I2D: score=2 
    SNUPNO951492, 3, ENSP000003098314MINT-63269 I2D: score=5 STRING: ENSP00000309831
    TNNI2P487883, ENSP000002528984I2D: score=1 STRING: ENSP00000252898
    TRIM63Q969Q13, ENSP000003633904I2D: score=1 STRING: ENSP00000363390
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003009skeletal muscle contraction IDA17194691
    GO:0006200ATP catabolic process IDA8987992
    GO:0006937regulation of muscle contraction ----
    GO:0006942regulation of striated muscle contraction IDA17194691
    GO:0030049muscle filament sliding TAS--

    Find genes that share ontologies with TNNT3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TNNT3

    1 HMDB Compound for TNNT3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TNNT3 gene (4 alternative transcripts): 
    NM_001042780.2  NM_001042781.2  NM_001042782.2  NM_006757.3  

    Unigene Cluster for TNNT3:

    Troponin T type 3 (skeletal, fast)
    Hs.73454  [show with all ESTs]
    Unigene Representative Sequence: BF693982
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000278317(uc001luu.4 uc001luw.4 uc001lur.3) ENST00000453458
    ENST00000381557 ENST00000381589(uc010qxf.2 uc010qxg.2) ENST00000381579
    ENST00000381563(uc001lus.1) ENST00000344578 ENST00000381558(uc001luq.4)
    ENST00000397301(uc001lut.1) ENST00000397304 ENST00000446240 ENST00000492075
    ENST00000493234 ENST00000473100 ENST00000381561 ENST00000381548(uc001lup.4)
    ENST00000360603(uc001lun.2 uc001luo.4) ENST00000381549
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      QuantiFast Probe-based Assays in human, mouse, rat TNNT3

    Additional mRNA sequence: 

    AK056968.1 BC022275.1 BC050446.1 BC062430.1 BC117327.1 BC143537.1 BC171727.1 BC171728.1 
    BT019997.1 BX640689.1 CR541927.1 DQ778624.1 M21984.1 U14641.1 U14642.1 U14643.1 

    13 DOTS entries:

    DT.100752219  DT.92422821  DT.101985458  DT.95175515  DT.450955  DT.101985459  DT.120694973  DT.91715348 
    DT.100839823  DT.100752220  DT.120694980  DT.40133635  DT.92422819 

    Selected AceView cDNA sequences (see all 232):

    F30207 F24719 AJ572890 F31379 F33168 F24333 F37573 U14642 
    CR541927 F29888 BC050446 BM679719 BX335189 F25029 F26088 F37826 
    F37085 F37112 AA195852 AI312949 BQ925647 F29327 AJ573101 BU675497 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TNNT3    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14
    SP1:                                            -     -                                                         
    SP2:                                            -           -                                                   
    SP3:                                                                                                  -         
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for TNNT3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TNNT3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGCCAACT
    TNNT3 Expression
    About this image


    TNNT3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 14 entries
             Multinuclear Myocytes Lumbar Back Muscles
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Gonad
             Primordial germ cell-like cells
     
     Germ Cells (Reproductive System)
             Primordial germ cell-like cells
    TNNT3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TNNT3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.73454

    UniProtKB/Swiss-Prot: TNNT3_HUMAN, P45378
    Tissue specificity: In fetal and adult fast skeletal muscles, with a higher level expression in fetal than in
    adult muscle

        Pathway & Disease-focused RT2 Profiler PCR Array including TNNT3: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNNT3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TNNT3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tnnt31 , 5 troponin T3, skeletal, fast1, 5 88.99(n)1
    95.93(a)1
      7 (87.94 cM)5
    219571  NM_001163664.11  NP_001157136.11 
     1424988365 
    chicken
    (Gallus gallus)
    Aves TNNT31 troponin T type 3 (skeletal, fast) 75.95(n)
    85.84(a)
      395761  NM_204922.2  NP_990253.1 
    lizard
    (Anolis carolinensis)
    Reptilia TNNT36
    troponin T type 3 (skeletal, fast)
    79(a)
    1 ↔ 1
    1(70503906-70546416)
    African clawed frog
    (Xenopus laevis)
    Amphibia tnnt3a-prov2 troponin T3, skeletal, fast 82.81(n)    BC044998.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC053304.12   -- 77.72(n)   58084  BC053304.1 


    ENSEMBL Gene Tree for TNNT3 (if available)
    TreeFam Gene Tree for TNNT3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TNNT3 gene
    TNNT12  TNNT22  
    3 SIMAP similar genes for TNNT3 using alignment to 12 protein entries:     TNNT3_HUMAN (see all proteins):
    TNNT1    HNTN1    TNNT2

    Find genes that share paralogs with TNNT3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TNNT3 (see all 691)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0264534
    Arthrogryposis, distal, 2B (DA2B)4--see VAR_0264532 R H mis40--------
    rs1214346381,2
    Cpathogenic11954967(+) GAAGCA/GTCAGA 8 H R mis10--------
    rs13982561,2
    C,F,A,Huntested11943605(-) GATGAT/CCGAGA 4 -- int124Minor allele frequency- C:0.25NS EA NA WA CSA 2352
    rs23343851,2
    C,F,O,A,Huntested11943708(-) AGCCCA/G/TCTCTA 4 -- int128NS EA NA WA CSA 2497
    rs9659121,2
    C,F,Huntested11944202(-) CAAGAC/TAGCGC 4 -- int134Minor allele frequency- T:0.22NS EA NA WA CSA EU 4522
    rs27345001,2
    C,F,Huntested11944636(+) TCCTCT/AGGGCC 4 -- int114Minor allele frequency- A:0.18NS EA NA WA CSA 636
    rs1449572381,2
    Cuntested11955200(+) GGATTC/TGTGCA 8 R C mis11Minor allele frequency- T:0.00NA 4316
    rs22924701,2
    C,F,Huntested11955609(-) TCGTCC/TTCTGC 8 E syn1 ese38Minor allele frequency- T:0.01EA NS NA EU 7845
    rs169271661,2
    C,F,Huntested11956104(+) GAGATT/CGACAA 8 /I syn1 ese327Minor allele frequency- C:0.04NA NS EA WA CSA EU 8459
    rs47271,2
    C,Funtested11959707(+) GTCGGC/TGGGCG 8 G syn110Minor allele frequency- T:0.17MN EA NA CSA EU 7337

    HapMap Linkage Disequilibrium report for TNNT3 (1940792 - 1959936 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TNNT3 (see all 27):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv151e201CNV Deletion23290073
    esv2743979CNV Deletion23290073
    esv1007968CNV Insertion20482838
    nsv7644CNV Insertion18451855
    nsv63CNV Insertion15895083
    dgv989n71CNV Loss21882294
    nsv522320CNV Loss19592680
    nsv516622CNV Loss19592680
    nsv896731CNV Loss21882294
    dgv987n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): TNNT3
    Locus Specific Mutation Databases (LSDB): TNNT3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TNNT3
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600692   
    OMIM disorders: 601680  
    UniProtKB/Swiss-Prot: TNNT3_HUMAN, P45378
  • Arthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of distal arthrogryposis, a disease characterized
    by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a
    primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a
    distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for TNNT3:    
    About MalaCards
    tnnt3-related arthrogryposis multiplex congenita, distal, type 2b    congenital contractures    arthyrgryposis, distal, type 2b    distal arthrogryposis
    arthrogryposis distal type 2b    fissured tongue    distal arthrogryposis type 5    arthrogryposis multiplex congenita distal type 1

    4 diseases from the University of Copenhagen DISEASES database for TNNT3:
    Distal arthrogryposis     Clubfoot     Fissured tongue     Nemaline myopathy

    Find genes that share disorders with TNNT3           About GenesLikeMe

    Genetic Association Database (GAD): TNNT3
    Human Genome Epidemiology (HuGE) Navigator: TNNT3 (5 documents)

    Export disorders for TNNT3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TNNT3 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with TNNT3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of human fast skeletal beta troponin T cDNA: comparative sequence analysis of isoforms and insight into the evolution of members of a multigene family. (PubMed id 8172653)1, 2, 3, 9 Wu Q.-L.... Sarkar S. (DNA Cell Biol. 1994)
    2. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. (PubMed id 19142688)1, 4, 9 Gurnett C.A....Dobbs M.B. (Clin. Orthop. Relat. Res. 2009)
    3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. (PubMed id 12865991)1, 2 Sung S.S.... Bamshad M. (Am. J. Hum. Genet. 2003)
    8. Identification of a fetal exon in the human fast troponin T gene. (PubMed id 8062920)1, 2 Briggs M.M.... Schachat F. (FEBS Lett. 1994)
    9. Assignment of the human fast skeletal troponin T gene (TNNT3) to chromosome 11p15.5: evidence for the presence of 11pter in a monochromosome 9 somatic cell hybrid in NIGMS mapping panel 2. (PubMed id 8838323)1, 9 Mao C....Sarkar S. (Genomics 1996)
    10. A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. (PubMed id 23936387)1 A9stensson M....Torinsson-Naluai A.8. (PLoS ONE 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7140 HGNC: 11950 AceView: TNNT3 Ensembl:ENSG00000130595 euGenes: HUgn7140
    ECgene: TNNT3 H-InvDB: TNNT3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TNNT3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TNNT3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TNNT3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TNNT3 gene:
    Search GeneIP for patents involving TNNT3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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