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

    Gene ID: 7139, updated on 28-Oct-2024

    Summary

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    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; AllianceGenome:HGNC:11949
    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
    This gene encodes the cardiac isoform of troponin T. The encoded protein 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. [provided by RefSeq, May 2022]
    Expression
    Restricted expression toward heart (RPKM 1647.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See TNNT2 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (201359014..201377680, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (200616823..200635489, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201328142..201346808, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201252475-201253004 Neighboring gene plakophilin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201271917-201272422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201290713-201291214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201315623-201316123 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201316234-201317218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2311 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201322652-201323191 Neighboring gene uncharacterized LOC101929326 Neighboring gene skeletal muscle cis-regulatory module in TNNT2 intron Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201346239-201346776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201346777-201347314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201348651-201349414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201358357-201358857 Neighboring gene ladinin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201368148-201368810 Neighboring gene uncharacterized LOC101929343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2312 Neighboring gene troponin I1, slow skeletal type

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Highly sensitive cardiac troponin T and long-term mortality in a population of community-derived perimenopausal women: nested case-control study. Cramer GE, et al. Heart, 2013 Apr. PMID 23315610
    2. Prognostic significance of elevated cardiac troponin-T levels in acute respiratory distress syndrome patients. Rivara MB, et al. PLoS One, 2012. PMID 22808179, Free PMC Article
    3. Troponin T for the detection of dialysis-induced myocardial stunning in hemodialysis patients. Breidthardt T, et al. Clin J Am Soc Nephrol, 2012 Aug. PMID 22822013, Free PMC Article
    4. Prognostic value of highly sensitive troponin T on cardiac events in patients with chronic kidney disease not on dialysis. Hasegawa M, et al. Heart Vessels, 2013 Jul. PMID 22914904
    5. Comparison of a 3-hour versus a 6-hour sampling-protocol using high-sensitivity cardiac troponin T for rule-out and rule-in of non-STEMI in an unselected emergency department population. Biener M, et al. Int J Cardiol, 2013 Aug 20. PMID 23063209

    See all (448) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.
      Title: Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.
    2. De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy.
      Title: De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy.
    3. Cardiac troponin T as a postmortem biomarker for acute myocardial infarction.
      Title: Cardiac troponin T as a postmortem biomarker for acute myocardial infarction.
    4. Diagnostic and prognostic performance of the ratio between high-sensitivity cardiac troponin I and troponin T in patients with chest pain.
      Title: Diagnostic and prognostic performance of the ratio between high-sensitivity cardiac troponin I and troponin T in patients with chest pain.
    5. Coronary Atherosclerosis, Cardiac Troponin, and Interleukin-6 in Patients With Chest Pain: The PROMISE Trial Results.
      Title: Coronary Atherosclerosis, Cardiac Troponin, and Interleukin-6 in Patients With Chest Pain: The PROMISE Trial Results.
    6. Allele-specific silencing by RNAi of R92Q and R173W mutations in cardiac troponin T.
      Title: Allele-specific silencing by RNAi of R92Q and R173W mutations in cardiac troponin T.
    7. High-Sensitivity Cardiac Troponin T, Age, and Outcome in Non-ST-Elevation Myocardial Infarction.
      Title: High-Sensitivity Cardiac Troponin T, Age, and Outcome in Non-ST-Elevation Myocardial Infarction.
    8. Evaluation of Cardiac Troponin and Adverse Outcomes After Aneurysmal Subarachnoid Hemorrhage: A Systematic Review and Meta-Analysis.
      Title: Evaluation of Cardiac Troponin and Adverse Outcomes After Aneurysmal Subarachnoid Hemorrhage: A Systematic Review and Meta-Analysis.
    9. Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy.
      Title: Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy.
    10. The ratio of cardiac troponin T to troponin I may indicate non-necrotic troponin release among COVID-19 patients.
      Title: The ratio of cardiac troponin T to troponin I may indicate non-necrotic troponin release among COVID-19 patients.
    Submit: New GeneRIF Correction See all GeneRIFs (361)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    EBI 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.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3889

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to microfilament motor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tropomyosin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tropomyosin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables troponin C binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables troponin C binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables troponin I binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables troponin I binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cardiac muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cardiac muscle contraction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in muscle filament sliding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of ATP-dependent activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of ATP-dependent activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of heart contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of muscle contraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to calcium ion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to calcium ion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ventricular cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of cardiac Troponin complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cardiac myofibril IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in sarcomere TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in striated muscle thin filament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of troponin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of troponin complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    troponin T, cardiac muscle
    Names
    cardiomyopathy, dilated 1D (autosomal dominant)
    cardiomyopathy, hypertrophic 2
    troponin T type 2 (cardiac)

    NCBI Reference Sequences (RefSeq)

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    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
      4998..23664
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_431

    mRNA and Protein(s)

    1. NM_000364.4 → NP_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/TrEMBL
      A0AAQ5BHV8
      Related
      ENSP00000395163.2, ENST00000422165.6
      Conserved Domains (1) summary
      pfam00992
      Location:103 → 238
      Troponin; Troponin

    2. NM_001001430.3 → NP_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/TrEMBL
      A0A499FJM7
      Related
      ENSP00000356287.5, ENST00000367318.10
      Conserved Domains (1) summary
      pfam00992
      Location:93 → 231
      Troponin

    3. NM_001001431.3 → NP_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/TrEMBL
      A0A499FJM7
      Related
      ENSP00000408731.2, ENST00000412633.3
      Conserved Domains (1) summary
      pfam00992
      Location:93 → 228
      Troponin; Troponin

    4. NM_001001432.3 → NP_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/TrEMBL
      E7EPW4
      Related
      ENSP00000414036.2, ENST00000438742.6
      Conserved Domains (1) summary
      pfam00992
      Location:88 → 225
      Troponin; Troponin

    5. NM_001276345.2 → NP_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
      A2TDB9, A8K3K6, O60214, P45379, Q99596, Q99597, Q9BUF6, Q9UM96
      UniProtKB/TrEMBL
      A0AAQ5BHV8
      Related
      ENSP00000499593.1, ENST00000656932.1
      Conserved Domains (1) summary
      pfam00992
      Location:103 → 241
      Troponin; Troponin

    6. NM_001276346.2 → NP_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, ENST00000367320.6
      Conserved Domains (1) summary
      pfam00992
      Location:98 → 198
      Troponin; Troponin

    7. NM_001276347.2 → NP_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/TrEMBL
      A0A499FJM7
      Related
      ENSP00000422031.1, ENST00000509001.5
      Conserved Domains (1) summary
      pfam00992
      Location:93 → 231
      Troponin

    8. NM_001406723.1 → NP_001393652.1  troponin T, cardiac muscle isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC119427

    9. NM_001406724.1 → NP_001393653.1  troponin T, cardiac muscle isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC119427
      Consensus CDS
      CCDS30969.1

    10. NM_001406725.1 → NP_001393654.1  troponin T, cardiac muscle isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC119427

    11. NM_001406726.1 → NP_001393655.1  troponin T, cardiac muscle isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC119427

    12. NM_001406727.1 → NP_001393656.1  troponin T, cardiac muscle isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC119427

    13. NM_001406728.1 → NP_001393657.1  troponin T, cardiac muscle isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC119427
      Related
      ENSP00000519589.1, ENST00000714313.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      201359014..201377680 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509943.3 → XP_011508245.1  troponin T, cardiac muscle isoform X5

      See identical proteins and their annotated locations for XP_011508245.1

      UniProtKB/TrEMBL
      E7EPW4
      Conserved Domains (1) summary
      pfam00992
      Location:88 → 226
      Troponin; Troponin

    2. XM_011509938.3 → XP_011508240.1  troponin T, cardiac muscle isoform X1

      See identical proteins and their annotated locations for XP_011508240.1

      UniProtKB/Swiss-Prot
      A2TDB9, A8K3K6, O60214, P45379, Q99596, Q99597, Q9BUF6, Q9UM96
      UniProtKB/TrEMBL
      A0AAQ5BHV8
      Conserved Domains (1) summary
      pfam00992
      Location:103 → 241
      Troponin; Troponin

    3. XM_011509944.3 → XP_011508246.1  troponin T, cardiac muscle isoform X6

      UniProtKB/TrEMBL
      E7EPW4
      Conserved Domains (1) summary
      pfam00992
      Location:87 → 225
      Troponin; Troponin

    4. XM_011509941.3 → XP_011508243.1  troponin T, cardiac muscle isoform X4

      Conserved Domains (1) summary
      pfam00992
      Location:102 → 239
      Troponin; Troponin

    5. XM_011509939.2 → XP_011508241.1  troponin T, cardiac muscle isoform X3

      UniProtKB/Swiss-Prot
      P45379
      Conserved Domains (1) summary
      pfam00992
      Location:102 → 240
      Troponin; Troponin

    6. XM_011509940.3 → XP_011508242.1  troponin T, cardiac muscle isoform X2

      UniProtKB/TrEMBL
      A0AAQ5BHV8
      Conserved Domains (1) summary
      pfam00992
      Location:103 → 240
      Troponin; Troponin

    7. XM_047429478.1 → XP_047285434.1  troponin T, cardiac muscle isoform X7

      UniProtKB/TrEMBL
      A0AAQ5BHX3

    8. XM_011509946.2 → XP_011508248.1  troponin T, cardiac muscle isoform X7

      UniProtKB/TrEMBL
      A0AAQ5BHX3, E7EPW4
      Related
      ENSP00000519588.1, ENST00000714312.1
      Conserved Domains (1) summary
      pfam00992
      Location:34 → 172
      Troponin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      200616823..200635489 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338574.1 → XP_054194549.1  troponin T, cardiac muscle isoform X5

    2. XM_054338570.1 → XP_054194545.1  troponin T, cardiac muscle isoform X1

      UniProtKB/Swiss-Prot
      A2TDB9, A8K3K6, O60214, P45379, Q99596, Q99597, Q9BUF6, Q9UM96

    3. XM_054338575.1 → XP_054194550.1  troponin T, cardiac muscle isoform X6

    4. XM_054338573.1 → XP_054194548.1  troponin T, cardiac muscle isoform X4

    5. XM_054338572.1 → XP_054194547.1  troponin T, cardiac muscle isoform X3

    6. XM_054338571.1 → XP_054194546.1  troponin T, cardiac muscle isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P45379.3 GenPept UniProtKB/Swiss-Prot:P45379

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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