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TNNT2 Gene

protein-coding   GIFtS: 68
GCID: GC01M201328

Troponin T Type 2 (Cardiac)

(Previous names: troponin T2, cardiac, cardiomyopathy, hypertrophic 2, cardiomyopathy,...)
(Previous symbols: CMH2, CMD1D)
  See TNNT2-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 2 (Cardiac)1 2     LVNC62 5
CMD1D1 2 5     RCM32 5
CMH21 2 5     CMPD22
Cardiomyopathy, Dilated 1D (Autosomal Dominant)1 2     TnTC2
Cardiomyopathy, Hypertrophic 21 2     Troponin T, Cardiac Muscle2
Troponin T2, Cardiac1 2     TnTc3
cTnT2 3     Cardiac Muscle Troponin T3

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 tnnt2-related familial hypertrophic 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   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 Chromatin IP Primers for TNNT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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

Explore proteomics data for TNNT2 at MOPED

Post-translational modifications: 

  • Phosphorylation at Thr-213 by PRKCA induces significant reduction in myofilament calcium sensitivity and
    actomyosin ATPase activity (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TNNT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    TNNT2 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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    2 InterPro protein domains:
     IPR027707 TNNT
     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


    Find genes that share domains with TNNT2           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: 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): Selected molecular function terms (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
         
    Find genes that share ontologies with TNNT2           About GenesLikeMe


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

    Find genes that share phenotypes with TNNT2           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TNNT2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TNNT2

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    hsa-mir-335-5p (MIRT018337)

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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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNNT2


    (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
    extracellular2
    nucleus2
    endoplasmic reticulum1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (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 ----

    Find genes that share ontologies with TNNT2           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 TNNT2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Dilated cardiomyopathy0.75
    3Ca-dependent events
    Development Beta adrenergic receptors signaling via cAMP0.32
    4Cytoskeletal Signaling
    Cytoskeletal Signaling
    5Cardiac Progenitor Differentiation
    Cardiac Progenitor Differentiation


    Find genes that share SuperPaths with TNNT2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    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


    1 Reactome Pathway for TNNT2
        Striated Muscle Contraction


    4 Kegg Pathways  (Kegg details for TNNT2):
        Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Hypertrophic cardiomyopathy (HCM)
    Dilated cardiomyopathy

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TNNT2
    Interactions:

        GeneGlobe Interaction Network for TNNT2

    Selected 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): Selected biological process terms (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

    Find genes that share ontologies with TNNT2           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
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      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with TNNT2           About GenesLikeMe



    (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 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
    Selected 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 

    Selected AceView cDNA sequences (see all 147):

    CA438630 NM_001001432 AJ706904 C05166 AY277394 AA362046 X79858 AJ709042 
    NM_000364 AJ709472 T28266 NM_001001431 N87772 C05420 AJ708802 AI277268 
    AA359365 C04363 AJ709460 NM_001001430 X79861 CF552185 AI567465 AI355699 

    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™, 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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    TNNT2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 11) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 31 entries
             Cardiomyocytes Myocardium
             Heart Tube
             Cardiomyocyte progenitor cells
             Encapsulated Embryoid Bodies
     
     NULL (Uncategorized)    fully expand to see all 16 entries
             Floating colonies of cardiomyocytes
     
     Fibroblasts
             Cardiac Fibroblasts Myocardium
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Yolk Sac (Extraembryonic Tissues)
             Yolk sac (Scl -/-)
    TNNT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TNNT2 Protein Expression

    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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    (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 TNNT2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tnnt21 , 5 troponin T2, cardiac1, 5 89.75(n)1
    95.24(a)1
      1 (59.32 cM)5
    219561  NM_001130178.21  NP_001123650.11 
     1358363865 
    chicken
    (Gallus gallus)
    Aves TNNT21 troponin T type 2 (cardiac) 78.42(n)
    82.59(a)
      396433  NM_205449.1  NP_990780.1 
    lizard
    (Anolis carolinensis)
    Reptilia TNNT26
    troponin T type 2 (cardiac)
    63(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 


    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)
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    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

    Find genes that share paralogs with TNNT2           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 TNNT2 (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
    ----------
    rs454661971,2,,4
    CCardiomyopathy, familial hypertrophic 2 (CMH2)4 --207867935(-) TTGGAG/TGCAGA 14 E D mis16Minor allele frequency- T:0.00NS NA 5030
    rs2007542491,2,,4
    CCardiomyopathy, familial hypertrophic 2 (CMH2)4 --207874818(+) CTTCCA/G/TCTGCC 21 E A V mis10--------
    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--------

    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

    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for TNNT2 (see all 21):    
    About MalaCards
    tnnt2-related familial restrictive cardiomyopathy    tnnt2-related familial hypertrophic cardiomyopathy    left ventricular noncompaction 6    cardiomyopathy, familial restrictive, 3
    cardiomyopathy, familial hypertrophic, 2    cardiomyopathy, dilated, 1d    tnnt2-related dilated cardiomyopathy    familial restrictive cardiomyopathy
    restrictive cardiomyopathy    hypertrophic cardiomyopathy    dilated cardiomyopathy    gas gangrene
    intermediate coronary syndrome    infective endocarditis    myocardial stunning    familial hypertrophic cardiomyopathy
    acute myocardial infarction    endocarditis    left ventricular noncompaction 1, with or without congenital heart defects    cardiomyopathy, dilated, 1w

    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

    Find genes that share disorders with TNNT2           About GenesLikeMe

    Selected 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)
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    PubMed articles for TNNT2 gene, integrated from 10 sources (see all 331):
    (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. (Eur. Heart J. 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. (Hum. Mutat. 1998)
    3. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PubMed id 15563892)1, 2, 4, 9 Song L.... Hui R. (Clin. Chim. Acta 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. (Genomics 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. (J. Med. Genet. 2005)
    6. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. (PubMed id 8205619)1, 2, 3 Thierfelder L.... Seidman C.E. (Cell 1994)
    7. [Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population]. (PubMed id 19253838)1, 4, 9 Chen B....Chen Y. (Sichuan Da Xue Xue Bao Yi Xue Ban 2008)
    8. The role of a common TNNT2 polymorphism in cardiac hypertrophy. (PubMed id 14986170)1, 4, 9 Komamura K....Miyatake K. (J. Hum. Genet. 2004)
    9. 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. (J. Mol. Cell. Cardiol. 1997)
    10. 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. (Circulation 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
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    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7139 HGNC: 11949 AceView: TNNT2 Ensembl:ENSG00000118194 euGenes: HUgn7139
    ECgene: TNNT2 Kegg: 7139 H-InvDB: TNNT2

    (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 TNNT2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TNNT2[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 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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