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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TNNT2 Gene

protein-coding   GIFtS: 68
GCID: GC01M201328

Troponin T Type 2 (Cardiac)

(Previous names: troponin T2, cardiac, cardiomyopathy, hypertrophic 2)
(Previous symbol: CMH2)
  See 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)
About This Section

Aliases
Troponin T Type 2 (Cardiac)1 2     CMPD22
CMH21 2 5     TnTC2
Cardiomyopathy, Hypertrophic 21 2     Cardiomyopathy, Dilated 1D (Autosomal Dominant)2
Troponin T2, Cardiac1 2     Troponin T, Cardiac Muscle2
cTnT2 3     TnTc3
LVNC62 5     Cardiac Muscle Troponin T3
RCM32 5     CMD1D5

External Ids:    HGNC: 119491   Entrez Gene: 71392   Ensembl: ENSG000001181947   OMIM: 1910455   UniProtKB: P453793   

Export aliases for TNNT2 gene to outside databases

Previous GC identifers: GC01P199302 GC01P197036 GC01M197794 GC01M198616 GC01M198059 GC01M199594 GC01M172495


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TNNT2 Gene:
The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on
the thin filament of striated muscles and regulates muscle contraction in response to alterations in
intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic
cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing
that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not
yet been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for TNNT2 Gene: 
TNNT2 (troponin T type 2 (cardiac)) is a protein-coding gene. Diseases associated with TNNT2 include tnnt2-related familial restrictive cardiomyopathy, and left ventricular noncompaction 6, and among its related super-pathways are Striated Muscle Contraction and Dilated cardiomyopathy. GO annotations related to this gene include actin binding and structural constituent of cytoskeleton. An important paralog of this gene is TNNT1.

UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379
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 TNNT2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TNNT2 gene promoter:
         MZF-1   AML1a   Tal-1   Lmo2   Pax-4a   YY1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTNNT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TNNT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TNNT2


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

Entrez Gene cytogenetic band: 1q32   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32

TNNT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNNT2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M201328:  view genomic region     (about GC identifiers)

Start:
201,328,136 bp from pter      End:
201,346,890 bp from pter
Size:
18,755 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379 (See protein sequence)
Recommended Name: Troponin T, cardiac muscle  
Size: 298 amino acids; 35924 Da
2 PDB 3D structures from and Proteopedia for TNNT2:
1J1D (3D)        1J1E (3D)    
Secondary accessions: A2TDB9 A8K3K6 O60214 Q99596 Q99597 Q9BUF6 Q9UM96
Alternative splicing: 11 isoforms:  P45379-1   P45379-2   P45379-3   P45379-4   P45379-5   P45379-6   P45379-7   P45379-8   
P45379-9   P45379-10   P45379-11   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TNNT2: NX_P45379

Post-translational modifications:

  • UniProtKB: Phosphorylation at Thr-213 by PRKCA induces significant reduction in myofilament calcium sensitivity and
    actomyosin ATPase activity (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P45379

  • TNNT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins (7 alternative transcripts): 
    NP_000355.2  NP_001001430.1  NP_001001431.1  NP_001001432.1  NP_001263274.1  NP_001263275.1  NP_001263276.1  

    ENSEMBL proteins: 
     ENSP00000356287   ENSP00000356291   ENSP00000356289   ENSP00000422031   ENSP00000414036  
     ENSP00000402238   ENSP00000395163   ENSP00000408731   ENSP00000387874   ENSP00000404134  
     ENSP00000236918   ENSP00000356286   ENSP00000356284   ENSP00000353535  
    Reactome Protein details: P45379
    Human Recombinant Protein Products for TNNT2: 
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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005861troponin complex IDA12093807
    GO:0005865striated muscle thin filament IDA12186860
    GO:0030016myofibril ----

    TNNT2 for ontologies           About GeneDecksing



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    Assay Products for TNNT2: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001978 Troponin

    Graphical View of Domain Structure for InterPro Entry P45379

    ProtoNet protein and cluster: P45379

    1 Blocks protein domain: IPB001978 Troponin

    UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379
    Similarity: Belongs to the troponin T family


    TNNT2 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TNNT2_HUMAN, P45379
    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 TNNT2:
    troponin T2,component of the troponin complex forming the calcium-sensitive molecular switch that regulates
    striated muscle contraction in response to modifications in intracellular concentration,cardiac muscle,regulating
    striated muscle contraction in response to alterations in intracellular calcium concentration,including multiple
    isoforms,involved in the attachment of the complex to tropomyosin and troponin I

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IDA8205619
    GO:0005200structural constituent of cytoskeleton IEA--
    GO:0005523tropomyosin binding IDA10850966
    GO:0016887contributes to ATPase activity IDA12093807
    GO:0030172troponin C binding IPI15542288
         
    TNNT2 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tnnt2):
     cardiovascular system  embryogenesis  growth/size  homeostasis/metabolism  mortality/aging 
     muscle  normal 

    TNNT2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TNNT2: Tnnt2tm1Feah Tnnt2tm1Mmto

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TNNT2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TNNT2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TNNT2 

    miRNA
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    hsa-miR-4302 hsa-miR-3119
    SwitchGear 3'UTR luciferase reporter plasmidTNNT2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TNNT2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.87
    Muscle contraction0.65
    Striated Muscle Contraction0.87
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Dilated cardiomyopathy0.75
    3PKA activation in glucagon signalling
    Development Beta-adrenergic receptors signaling via cAMP0.32
    4Cytoskeletal Signaling
    Cytoskeletal Signaling
    5Cardiac muscle contraction
    Cardiac muscle contraction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for TNNT2
        Development Beta-adrenergic receptors signaling via cAMP


    1 Cell Signaling Technology (CST) Pathway for TNNT2
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for TNNT2
        Development Beta-adrenergic receptors signaling via cAMP

    2 BioSystems Pathways for TNNT2
        Cardiac Progenitor Differentiation
    Striated Muscle Contraction


    2        Reactome Pathways for TNNT2
        Muscle contraction
    Striated Muscle Contraction


    3         Kegg Pathways  (Kegg details for TNNT2):
        Cardiac muscle contraction
    Hypertrophic cardiomyopathy (HCM)
    Dilated cardiomyopathy


    TNNT2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TNNT2

    5/7 Interacting proteins for TNNT2 (P453793) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNNI3P194293I2D: score=3 
    MAP2K5Q131633I2D: score=2 
    TNNC1P633163I2D: score=2 
    TPM1P094933I2D: score=2 
    MAP3K5Q996833I2D: score=1 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA12093807
    GO:0006936muscle contraction ----
    GO:0006937regulation of muscle contraction IEA--
    GO:0007507heart development ----
    GO:0008016regulation of heart contraction IMP15542288

    TNNT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TNNT2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TNNT2

    1 HMDB Compound for TNNT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    7 Novoseek inferred chemical compound relationships for TNNT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 60.9 57 14691043 (2), 15387448 (2), 19177312 (2), 10498300 (1) (see all 37)
    heparin 15.2 5 15387448 (2), 9470339 (1), 9469256 (1)
    fatty acid 11.7 2 17926199 (1), 18999883 (1)
    ptca 11.3 2 11208396 (2)
    lactate 7.86 2 10498300 (1), 16388789 (1)
    glycogen 3.87 1 18999883 (1)
    alanine 0 1 14662251 (1)

    Search CenterWatch for drugs/clinical trials and news about TNNT2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TNNT2 gene (7 alternative transcripts): 
    NM_000364.3  NM_001001430.2  NM_001001431.2  NM_001001432.2  NM_001276345.1  NM_001276346.1  NM_001276347.1  

    Unigene Cluster for TNNT2:

    Troponin T type 2 (cardiac)
    Hs.533613  [show with all ESTs]
    Unigene Representative Sequence: AK290621
    18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000476888(uc009wzn.3 uc009wzo.3) ENST00000460780(uc009wzp.3)
    ENST00000367318(uc021phc.1) ENST00000367322(uc001gwg.3 uc001gwh.3 uc009wzr.3)
    ENST00000491504 ENST00000367320 ENST00000509001(uc009wzt.1) ENST00000479297
    ENST00000438742 ENST00000515042(uc009wzs.1) ENST00000477035 ENST00000466570(uc001gwk.1)
    ENST00000455702(uc001gwl.1) ENST00000503459 ENST00000422165 ENST00000412633
    ENST00000445079 ENST00000475686
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    Additional mRNA sequence: 

    AK290621.1 AK309493.1 AY277394.1 BC002653.2 L40162.1 S64668.1 X74819.1 X79855.1 
    X79856.1 X79858.1 X79861.1 X83743.1 X83744.1 

    17 DOTS entries:

    DT.118095  DT.121454721  DT.100754093  DT.91695044  DT.40208592  DT.95158177  DT.92424285  DT.95158176 
    DT.100655158  DT.99954344  DT.121454688  DT.121454692  DT.40208593  DT.92424281  DT.95158182  DT.121454687 
    DT.87016979 

    24/147 AceView cDNA sequences (see all 147):

    AJ709472 CA438630 AJ709042 AA362046 NM_000364 NM_001001431 AJ706904 T28266 
    C05166 X79858 NM_001001432 AY277394 AJ708802 C04252 CF551854 C04363 
    CF552185 AA359365 AK125236 C05043 R57517 BM717795 AJ709028 AJ706907 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TNNT2 expression in normal human tissues (normalized intensities)      TNNT2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGCATTTTG
    TNNT2 Expression
    About this image


    TNNT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 23 entries
             Cardiomyocytes Myocardium
             Heart Tube
             Cardiomyocyte progenitor cells
             Cardiomyocyte-like progenitor cells ( Derivation of cardiomyocytes from pluripotent...
             heart muscle ; myocytes   
             left ventricular apex samples   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
             Human Skeletal Muscle Satellite Cells (HSkMSC)   
     
     Uncategorized (Uncategorized)    fully expand to see all 3 entries
             PureStem Progenitor ES-154
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem Z11, Meso Progenitor
             Mesoderm-like cells ( Derivation of cardiomyocytes from pluripotent stem cells and...
     
     Bone (Muscoskeletal System)
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   

    Genevestigator expression for TNNT2

    SOURCE GeneReport for Unigene cluster: Hs.533613

    UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379
    Tissue specificity: Heart. The fetal heart shows a greater expression in the atrium than in the ventricle, while
    the adult heart shows a greater expression in the ventricle than in the atrium. Isoform 6 predominates in normal
    adult heart. Isoforms 1, 7 and 8 are expressed in fetal heart. Isoform 7 is also expressed in failing adult heart

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNNT2

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TNNT2 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tnnt21 , 5 troponin T2, cardiac1, 5 86.1(n)1
    88.14(a)1
      1 (59.32 cM)5
    219561  NM_001130176.11  NP_001123648.11 
     1358363865 
    chicken
    (Gallus gallus)
    Aves TNNT21 troponin T type 2 (cardiac) 76.03(n)
    76.71(a)
      396433  NM_205449.1  NP_990780.1 
    lizard
    (Anolis carolinensis)
    Reptilia TNNT26
    Uncharacterized protein
    64(a)
    1 ↔ 1
    4(131354171-131387660)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF467920.12   -- 73.56(n)    AF467920.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tnnt22 troponin T2, cardiac 77.26(n)   58071  AF282384.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta up6
    upheld
    16(a)
    1 → many
    X(13487507-13496536)
    worm
    (Caenorhabditis elegans)
    Secernentea tnt-36
    tnt-46
    (see all 4)
    Protein TNT-4, isoform a
    (see all 4)
    6(a)
    14(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    X(7937567-7945048)
    V(1989479-1992889)


    ENSEMBL Gene Tree for TNNT2 (if available)
    TreeFam Gene Tree for TNNT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TNNT2 gene
    TNNT12  TNNT32  
    3 SIMAP similar genes for TNNT2 using alignment to 13 protein entries:     TNNT2_HUMAN (see all proteins):
    HNTN1    TNNT1    TNNT3

    TNNT2 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/647 SNPs in TNNT2 are shown (see all 647)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0161984
    Cardiomyopathy, dilated 1D (CMD1D)4--see VAR_0161982 R W mis40--------
    VAR_0198774
    Cardiomyopathy, familial hypertrophic 2 (CMH2)4--see VAR_0198772 F L mis40--------
    VAR_0161964
    Cardiomyopathy, familial hypertrophic 2 (CMH2)4--see VAR_0161962 R W mis40--------
    VAR_0439834
    Cardiomyopathy, dilated 1D (CMD1D)4--see VAR_0439832 R W mis40--------
    VAR_0076124
    Cardiomyopathy, familial hypertrophic 2 (CMH2)4--see VAR_0076122 R C mis40--------
    VAR_0161954
    Cardiomyopathy, familial hypertrophic 2 (CMH2)4--see VAR_0161952 R L mis40--------
    VAR_0076074
    Cardiomyopathy, familial hypertrophic 2 (CMH2)4--see VAR_0076072 F I mis40--------
    VAR_0076094
    Cardiomyopathy, familial hypertrophic 2 (CMH2)4--see VAR_0076092 E K mis40--------
    VAR_0198784
    Cardiomyopathy, familial hypertrophic 2 (CMH2)4--see VAR_0198782 F V mis40--------
    VAR_0076064
    Cardiomyopathy, familial hypertrophic 2 (CMH2)4--see VAR_0076062 R Q mis40--------

    HapMap Linkage Disequilibrium report for TNNT2 (201328136 - 201346890 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TNNT2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv832326CNV Loss17160897
    nsv832315CNV Loss17160897
    nsv467961CNV Gain19166990
    nsv470776CNV Gain18288195


    Human Gene Mutation Database (HGMD): TNNT2

    Locus Specific Mutation Databases (LSDB): TNNT2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TNNT2
    DNA2.0 Custom Variant and Variant Library Synthesis for TNNT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 191045   
    OMIM disorders: 115195  601494  612422  
    UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379
  • Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]: A hereditary heart disorder characterized by
    ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms
    include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The
    disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of
    cardiac failure and sudden cardiac death. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Cardiomyopathy, dilated 1D (CMD1D) [MIM:601494]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Cardiomyopathy, familial restrictive 3 (RCM3) [MIM:612422]: A heart disorder characterized by impaired
    filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness
    and systolic function. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/38 diseases for TNNT2 (see all 38):    About MalaCards
    tnnt2-related familial restrictive cardiomyopathy    left ventricular noncompaction 6    tnnt2-related familial hypertrophic cardiomyopathy    cardiomyopathy, familial hypertrophic, 2
    tnnt2-related dilated cardiomyopathy    restrictive cardiomyopathy    familial restrictive cardiomyopathy    hypertrophic cardiomyopathy
    dilated cardiomyopathy    familial hypertrophic cardiomyopathy    left ventricular noncompaction    gas gangrene
    intermediate coronary syndrome    familial dilated cardiomyopathy    acute myocardial infarction    nemaline myopathy
    cerebrovascular accident    pulmonary embolism    duchenne muscular dystrophy    friedreich ataxia

    12 diseases from the University of Copenhagen DISEASES database for TNNT2:
    Myocardial infarction     Intermediate coronary syndrome     Familial hypertrophic cardiomyopathy     Coronary heart disease
    Hypertrophic cardiomyopathy     Vascular disease     Dilated cardiomyopathy     Kidney failure
    Myocarditis     Congestive heart failure     Restrictive cardiomyopathy     Gas gangrene

    TNNT2 for disorders           About GeneDecksing

    10/24 Novoseek inferred disease relationships for TNNT2 gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    death sudden cardiac 61.5 3 19477965 (1), 12881443 (1), 19880069 (1)
    dilated cardiomyopathy 61.5 6 11967535 (1), 20124440 (1), 20031601 (1), 11779518 (1) (see all 6)
    death sudden 57.9 4 11857753 (1), 14563299 (1), 11967535 (1), 11779518 (1)
    cardiomyopathy 48.4 3 20083571 (2), 20124440 (1)
    acute myocardial infarction 48.4 14 12649923 (3), 9857757 (1), 17926199 (1), 9028628 (1) (see all 9)
    heart failure 47.8 6 15819505 (1), 14697983 (1), 17289431 (1), 11967535 (1) (see all 5)
    ventricular hypertrophy 45.7 5 10462276 (2), 17289431 (1), 9714088 (1), 14986170 (1)
    hypertrophy 45.4 3 20414521 (1), 12881443 (1), 9714088 (1)
    myocardial infarction 42 4 12815787 (1), 12955276 (1), 14662251 (1)
    cardiac hypertrophy 38.1 2 11857753 (1), 14986170 (1)

    GeneTests: TNNT2
    GeneReviews: TNNT2
    Genetic Association Database (GAD): TNNT2
    Human Genome Epidemiology (HuGE) Navigator: TNNT2 (36 documents)

    Export disorders for TNNT2 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)
    About This Section

    PubMed articles for TNNT2 gene, integrated from 9 sources (see all 315):
    (articles sorted by number of sources associating them with TNNT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. (PubMed id 15769782)1, 2, 4, 9 Villard E.... Komajda M. (2005)
    2. A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy. (PubMed id 9482583)1, 2, 3, 9 Gerull B.... Thierfelder L. (1998)
    3. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PubMed id 15563892)1, 2, 4, 9 Song L.... Hui R. (2005)
    4. Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q. (PubMed id 8088824)1, 2, 3, 9 Townsend P.J.... Barton P.J.R. (1994)
    5. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PubMed id 16199542)1, 2, 4, 9 Ingles J.... Semsarian C. (2005)
    6. [Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population] (PubMed id 19253838)1, 4, 9 Chen B....Chen Y. (2008)
    7. The role of a common TNNT2 polymorphism in cardiac hypertrophy. (PubMed id 14986170)1, 4, 9 Komamura K....Miyatake K. (2004)
    8. Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. (PubMed id 9140840)1, 2, 9 Nakajima-Taniguchi C....Yamauchi-Takihara K. (1997)
    9. Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy. (PubMed id 8989109)1, 2, 9 Forissier J.F....Schwartz K. (1996)
    10. Prevalence of sarcomere protein gene mutations in pre adolescent children with hypertrophic cardiomyopathy. (PubMed id 20031618)1, 4, 9 Kaski J.P....Elliott P.M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 7139 HGNC: 11949 AceView: TNNT2 Ensembl:ENSG00000118194 euGenes: HUgn7139
    ECgene: TNNT2 Kegg: 7139 H-InvDB: TNNT2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TNNT2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNNT2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TNNT2 gene:
    Search GeneIP for patents involving TNNT2

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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