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

    Gene ID: 7139, updated on 17-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TNNT2 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (201359014..201377680, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (200616823..200635489, complement)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC3889

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding 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 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000364.4NP_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
      Related
      ENSP00000395163.2, ENST00000422165.6
      Conserved Domains (1) summary
      pfam00992
      Location:103238
      Troponin; Troponin
    2. NM_001001430.3NP_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:93231
      Troponin
    3. NM_001001431.3NP_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:93228
      Troponin; Troponin
    4. NM_001001432.3NP_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
      A0A0A0MRJ5, E7EPW4
      Related
      ENSP00000414036.2, ENST00000438742.6
      Conserved Domains (1) summary
      pfam00992
      Location:88225
      Troponin; Troponin
    5. NM_001276345.2NP_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
      Related
      ENSP00000499593.1, ENST00000656932.1
      Conserved Domains (1) summary
      pfam00992
      Location:103241
      Troponin; Troponin
    6. NM_001276346.2NP_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:98198
      Troponin; Troponin
    7. NM_001276347.2NP_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:93231
      Troponin
    8. NM_001406723.1NP_001393652.1  troponin T, cardiac muscle isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC119427
    9. NM_001406724.1NP_001393653.1  troponin T, cardiac muscle isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC119427
      Consensus CDS
      CCDS30969.1
      UniProtKB/TrEMBL
      A0A499FJM7
    10. NM_001406725.1NP_001393654.1  troponin T, cardiac muscle isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC119427
      UniProtKB/TrEMBL
      A0A499FJM7
    11. NM_001406726.1NP_001393655.1  troponin T, cardiac muscle isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC119427
      UniProtKB/TrEMBL
      A0A499FJM7
    12. NM_001406727.1NP_001393656.1  troponin T, cardiac muscle isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC119427
      UniProtKB/TrEMBL
      A0A499FJM7
    13. NM_001406728.1NP_001393657.1  troponin T, cardiac muscle isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC119427
      UniProtKB/TrEMBL
      E7EPW4
      Related
      ENSP00000519589.1, ENST00000714313.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_011509943.3XP_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:88226
      Troponin; Troponin
    2. XM_011509938.3XP_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
      Conserved Domains (1) summary
      pfam00992
      Location:103241
      Troponin; Troponin
    3. XM_011509944.3XP_011508246.1  troponin T, cardiac muscle isoform X6

      UniProtKB/TrEMBL
      E7EPW4
      Conserved Domains (1) summary
      pfam00992
      Location:87225
      Troponin; Troponin
    4. XM_011509941.3XP_011508243.1  troponin T, cardiac muscle isoform X4

      Conserved Domains (1) summary
      pfam00992
      Location:102239
      Troponin; Troponin
    5. XM_011509939.2XP_011508241.1  troponin T, cardiac muscle isoform X3

      UniProtKB/Swiss-Prot
      P45379
      Conserved Domains (1) summary
      pfam00992
      Location:102240
      Troponin; Troponin
    6. XM_011509940.3XP_011508242.1  troponin T, cardiac muscle isoform X2

      UniProtKB/Swiss-Prot
      P45379
      Conserved Domains (1) summary
      pfam00992
      Location:103240
      Troponin; Troponin
    7. XM_047429478.1XP_047285434.1  troponin T, cardiac muscle isoform X7

      UniProtKB/TrEMBL
      E7EPW4
    8. XM_011509946.2XP_011508248.1  troponin T, cardiac muscle isoform X7

      UniProtKB/TrEMBL
      E7EPW4
      Related
      ENSP00000519588.1, ENST00000714312.1
      Conserved Domains (1) summary
      pfam00992
      Location:34172
      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_054338574.1XP_054194549.1  troponin T, cardiac muscle isoform X5

      UniProtKB/TrEMBL
      E7EPW4
    2. XM_054338570.1XP_054194545.1  troponin T, cardiac muscle isoform X1

      UniProtKB/Swiss-Prot
      A2TDB9, A8K3K6, O60214, P45379, Q99596, Q99597, Q9BUF6, Q9UM96
    3. XM_054338575.1XP_054194550.1  troponin T, cardiac muscle isoform X6

      UniProtKB/TrEMBL
      E7EPW4
    4. XM_054338573.1XP_054194548.1  troponin T, cardiac muscle isoform X4

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

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