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    TNNT2 troponin T2, cardiac type [ Homo sapiens (human) ]

    Gene ID: 7139, updated on 10-Jun-2018
    Official Symbol
    TNNT2provided by HGNC
    Official Full Name
    troponin T2, cardiac typeprovided by HGNC
    Primary source
    HGNC:HGNC:11949
    See related
    Ensembl:ENSG00000118194 MIM:191045; Vega:OTTHUMG00000035733
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CMH2; RCM3; TnTC; cTnT; CMD1D; CMPD2; LVNC6
    Summary
    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]
    Expression
    Restricted expression toward heart (RPKM 1647.3) See more
    Orthologs
    See TNNT2 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (201359008..201377828, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201328136..201346836, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene plakophilin 1 Neighboring gene uncharacterized LOC101929326 Neighboring gene skeletal muscle cis-regulatory module in TNNT2 intron Neighboring gene ladinin 1 Neighboring gene uncharacterized LOC101929343

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TNNT2 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2015-11-15)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2015-11-15)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
    NHGRI GWA Catalog
    • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
      Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
      Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
    • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
      Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC3889

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    CONTRIBUTES_TO calcium-dependent ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    CONTRIBUTES_TO protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding, bridging IEA
    Inferred from Electronic Annotation
    more info
     
    CONTRIBUTES_TO tropomyosin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    tropomyosin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    troponin C binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    troponin C binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    troponin I binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    troponin I binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    actin crosslink formation IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cardiac muscle contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    muscle filament sliding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    muscle filament sliding TAS
    Traceable Author Statement
    more info
     
    negative regulation of ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein heterooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of heart contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of muscle filament sliding speed IEA
    Inferred from Electronic Annotation
    more info
     
    response to calcium ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    skeletal muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ventricular cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cardiac Troponin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cardiac myofibril IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    sarcomere TAS
    Traceable Author Statement
    more info
    PubMed 
    striated muscle thin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    troponin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    troponin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    troponin T, cardiac muscle
    Names
    cardiomyopathy, dilated 1D (autosomal dominant)
    cardiomyopathy, hypertrophic 2
    troponin T type 2 (cardiac)
    truncated cardiac troponin T

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007556.1 RefSeqGene

      Range
      5001..23664
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000364.3NP_000355.2  troponin T, cardiac muscle isoform 1

      See identical proteins and their annotated locations for NP_000355.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an in-frame exon in the 3' coding region, compared to variant 5. It encodes a shorter isoform (1) compared to isoform 5.
      Source sequence(s)
      AA865519, AJ709280, BC002653, X79855
      UniProtKB/Swiss-Prot
      P45379
      Conserved Domains (1) summary
      pfam00992
      Location:103238
      Troponin; Troponin
    2. NM_001001430.2NP_001001430.1  troponin T, cardiac muscle isoform 2

      See identical proteins and their annotated locations for NP_001001430.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 5. It encodes a shorter isoform (2) compared to isoform 5. Variants 2 and 7 encode the same protein.
      Source sequence(s)
      AA865519, AJ709280, BC002653, L40162
      Consensus CDS
      CCDS30969.1
      UniProtKB/Swiss-Prot
      P45379
      Related
      ENSP00000356287.5, OTTHUMP00000033867, ENST00000367318.9, OTTHUMT00000086925
      Conserved Domains (1) summary
      pfam00992
      Location:93231
      Troponin; Troponin
    3. NM_001001431.2NP_001001431.1  troponin T, cardiac muscle isoform 3

      See identical proteins and their annotated locations for NP_001001431.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks multiple in-frame exons, compared to variant 5. It encodes a shorter isoform (3) compared to isoform 5.
      Source sequence(s)
      AA865519, AJ709280, BC002653
      Consensus CDS
      CCDS30968.1
      UniProtKB/Swiss-Prot
      P45379
      Related
      ENSP00000356291.1, OTTHUMP00000033864, ENST00000367322.5, OTTHUMT00000086921
      Conserved Domains (1) summary
      pfam00992
      Location:93228
      Troponin; Troponin
    4. NM_001001432.2NP_001001432.1  troponin T, cardiac muscle isoform 4

      See identical proteins and their annotated locations for NP_001001432.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks multiple in-frame exons, compared to variant 5. It encodes a shorter isoform (4) compared to isoform 5.
      Source sequence(s)
      AA865519, AJ709280, BC002653, X79861
      Consensus CDS
      CCDS73002.1
      UniProtKB/Swiss-Prot
      P45379
      UniProtKB/TrEMBL
      A0A0A0MRJ5, Q15607
      Related
      ENSP00000414036.1, OTTHUMP00000033865, ENST00000438742.5, OTTHUMT00000086922
      Conserved Domains (1) summary
      pfam00992
      Location:88225
      Troponin; Troponin
    5. NM_001276345.1NP_001263274.1  troponin T, cardiac muscle isoform 5

      See identical proteins and their annotated locations for NP_001263274.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) encodes the longest isoform (5).
      Source sequence(s)
      AA865519, AJ709280, BC002653, L40162, X79855
      Consensus CDS
      CCDS73003.1
      UniProtKB/Swiss-Prot
      P45379
      Related
      ENSP00000236918.8, ENST00000236918.11
      Conserved Domains (1) summary
      pfam00992
      Location:103241
      Troponin; Troponin
    6. NM_001276346.1NP_001263275.1  troponin T, cardiac muscle isoform 6

      See identical proteins and their annotated locations for NP_001263275.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks multiple in-frame exons and uses an alternate in-frame splice site in the 5' coding region, compared to variant 5. It encodes a shorter isoform (6) compared to isoform 5.
      Source sequence(s)
      AA865519, AJ709280, X79857
      Consensus CDS
      CCDS60390.1
      UniProtKB/Swiss-Prot
      P45379
      Related
      ENSP00000356289.2, OTTHUMP00000033866, ENST00000367320.6, OTTHUMT00000086923
      Conserved Domains (1) summary
      pfam00992
      Location:98198
      Troponin; Troponin
    7. NM_001276347.1NP_001263276.1  troponin T, cardiac muscle isoform 2

      See identical proteins and their annotated locations for NP_001263276.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and lacks an in-frame exon in the 5' coding region compared to variant 5. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 5. Variants 2 and 7 encode the same protein.
      Source sequence(s)
      AA865519, AK290621, BC002653
      Consensus CDS
      CCDS30969.1
      UniProtKB/Swiss-Prot
      P45379
      Related
      ENSP00000422031.1, OTTHUMP00000218095, ENST00000509001.5, OTTHUMT00000360358
      Conserved Domains (1) summary
      pfam00992
      Location:93231
      Troponin; Troponin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      201359008..201377828 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711509.3XP_006711572.1  troponin T, cardiac muscle isoform X6

      Conserved Domains (1) summary
      pfam00992
      Location:92230
      Troponin; Troponin
    2. XM_017002217.1XP_016857706.1  troponin T, cardiac muscle isoform X8

      UniProtKB/Swiss-Prot
      P45379
      Conserved Domains (1) summary
      pfam00992
      Location:93228
      Troponin; Troponin
    3. XM_024449455.1XP_024305223.1  troponin T, cardiac muscle isoform X7

      Conserved Domains (1) summary
      pfam00992
      Location:93230
      Troponin; Troponin
    4. XM_011509941.2XP_011508243.1  troponin T, cardiac muscle isoform X4

      Conserved Domains (1) summary
      pfam00992
      Location:102239
      Troponin; Troponin
    5. XM_011509940.2XP_011508242.1  troponin T, cardiac muscle isoform X3

      UniProtKB/Swiss-Prot
      P45379
      Conserved Domains (1) summary
      pfam00992
      Location:103240
      Troponin; Troponin
    6. XM_011509944.2XP_011508246.1  troponin T, cardiac muscle isoform X10

      Conserved Domains (1) summary
      pfam00992
      Location:87225
      Troponin; Troponin
    7. XM_011509942.2XP_011508244.1  troponin T, cardiac muscle isoform X9

      See identical proteins and their annotated locations for XP_011508244.1

      UniProtKB/Swiss-Prot
      P45379
      Conserved Domains (1) summary
      pfam00992
      Location:88226
      Troponin; Troponin
    8. XM_011509939.1XP_011508241.1  troponin T, cardiac muscle isoform X2

      UniProtKB/Swiss-Prot
      P45379
      Conserved Domains (1) summary
      pfam00992
      Location:102240
      Troponin; Troponin
    9. XM_024449450.1XP_024305218.1  troponin T, cardiac muscle isoform X1

      Conserved Domains (1) summary
      pfam00992
      Location:103241
      Troponin; Troponin
    10. XM_011509938.2XP_011508240.1  troponin T, cardiac muscle isoform X1

      See identical proteins and their annotated locations for XP_011508240.1

      UniProtKB/Swiss-Prot
      P45379
      Conserved Domains (1) summary
      pfam00992
      Location:103241
      Troponin; Troponin
    11. XM_011509943.2XP_011508245.1  troponin T, cardiac muscle isoform X9

      See identical proteins and their annotated locations for XP_011508245.1

      UniProtKB/Swiss-Prot
      P45379
      Conserved Domains (1) summary
      pfam00992
      Location:88226
      Troponin; Troponin
    12. XM_024449454.1XP_024305222.1  troponin T, cardiac muscle isoform X6

      Conserved Domains (1) summary
      pfam00992
      Location:92230
      Troponin; Troponin
    13. XM_006711508.3XP_006711571.1  troponin T, cardiac muscle isoform X5

      See identical proteins and their annotated locations for XP_006711571.1

      UniProtKB/Swiss-Prot
      P45379
      Conserved Domains (1) summary
      pfam00992
      Location:93231
      Troponin; Troponin
    14. XM_011509946.1XP_011508248.1  troponin T, cardiac muscle isoform X11

      Related
      ENSP00000387874.3, ENST00000458432.6
      Conserved Domains (1) summary
      pfam00992
      Location:34172
      Troponin; Troponin
    15. XM_017002216.2XP_016857705.1  troponin T, cardiac muscle isoform X7

      Conserved Domains (1) summary
      pfam00992
      Location:93230
      Troponin; Troponin
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