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

Gene ID: 7139, updated on 9-Jul-2017
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]
Orthologs
Location:
1q32.1
Exon count:
17
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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 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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IEA
Inferred from Electronic Annotation
more info
 
tropomyosin binding IDA
Inferred from Direct Assay
more info
PubMed 
troponin C binding IPI
Inferred from Physical Interaction
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 IDA
Inferred from Direct Assay
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 
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 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 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p7 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_011509941.2XP_011508243.1  troponin T, cardiac muscle isoform X4

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

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

    Conserved Domains (1) summary
    pfam00992
    Location:87225
    Troponin; Troponin
  6. 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
  7. XM_011509939.1XP_011508241.1  troponin T, cardiac muscle isoform X2

    UniProtKB/Swiss-Prot
    P45379
    Conserved Domains (1) summary
    pfam00992
    Location:102240
    Troponin; Troponin
  8. 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
  9. 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
  10. 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
  11. XM_017002216.1XP_016857705.1  troponin T, cardiac muscle isoform X7

  12. 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

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    202750309..202768995 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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