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

Gene ID: 7139, updated on 29-Mar-2021

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
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
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Genomic context

See TNNT2 in Genome Data Viewer
Location:
1q32.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (201359014..201377828, complement)
105.20201022 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 plakophilin 1 Neighboring gene uncharacterized LOC101929326 Neighboring gene skeletal muscle cis-regulatory module in TNNT2 intron Neighboring gene ladinin 1 Neighboring gene uncharacterized LOC101929343

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

Associated conditions

Description Tests
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.
GeneReviews: Not available
Familial hypertrophic cardiomyopathy 2
MedGen: C1861864 OMIM: 115195
Compare labs
Familial restrictive cardiomyopathy 3
MedGen: C2676271 OMIM: 612422 GeneReviews: Not available
Compare labs
Left ventricular noncompaction 6
MedGen: C1832243 OMIM: 601494
Compare labs
Primary dilated cardiomyopathy
MedGen: C0007193
Compare labs

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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
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 
regulation of heart contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of muscle contraction 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 
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 

General protein information

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

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_000364.4NP_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/Swiss-Prot
    P45379
    Related
    ENSP00000356287.5, ENST00000367318.10
    Conserved Domains (1) summary
    pfam00992
    Location:93231
    Troponin; 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/Swiss-Prot
    P45379
    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/Swiss-Prot
    P45379
    UniProtKB/TrEMBL
    A0A0A0MRJ5, Q15607
    Related
    ENSP00000356286.5, ENST00000367317.8
    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
    P45379
    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/Swiss-Prot
    P45379
    Related
    ENSP00000422031.1, ENST00000509001.5
    Conserved Domains (1) summary
    pfam00992
    Location:93231
    Troponin; Troponin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    201359014..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
    Related
    ENSP00000499418.1, ENST00000660295.1
    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
  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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