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

Gene ID: 7139, updated on 27-Nov-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
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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
  • 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)

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

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