Tnnt2 troponin T2, cardiac [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tnnt2provided by MGI
Official Full Name: troponin T2, cardiacprovided by MGI
Primary source: MGI:MGI:104597
See related: Ensembl:ENSMUSG00000026414 AllianceGenome:MGI:104597
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tnt; cTnT
Summary: A structural constituent of cytoskeleton. Acts upstream of or within several processes, including cardiac muscle tissue morphogenesis; response to bacterium; and sarcomere organization. Located in sarcomere and sarcoplasm. Part of troponin complex. Is expressed in several structures, including alimentary system; embryo mesenchyme; heart; musculature; and urogenital sinus. Used to study dilated cardiomyopathy 1D and hypertrophic cardiomyopathy 2. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple). Orthologous to human TNNT2 (troponin T2, cardiac type). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in heart adult (RPKM 846.5) and bladder adult (RPKM 77.4) See more
Orthologs: human all
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Genomic context

Location:: 1 E4; 1 59.32 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (135763933..135780006)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (135836315..135852268)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Carrying both the heterozygous Myh6-R453C and Tnnt2-R92W mutations aggravate the hypertrophic cardiomyopathy phenotype in mice.
Title: Carrying both the heterozygous Myh6-R453C and Tnnt2-R92W mutations aggravate the hypertrophic cardiomyopathy phenotype in mice.
Dystrophin and calcium current are decreased in cardiomyocytes expressing Cre enzyme driven by alphaMHC but not TNT promoter.
Title: Dystrophin and calcium current are decreased in cardiomyocytes expressing Cre enzyme driven by αMHC but not TNT promoter.
Cardiac troponin T at the NMJ region contributes to NMJ functional decline with ageing mainly in the fast-twitch skeletal muscle through interfering with PKA signalling.
Title: Cardiac troponin T and fast skeletal muscle denervation in ageing.
Hypertrophic cardiomyopathy pathophysiology is "mutation specific" in mice models carrying TNNT2 E163R and R92Q mutations.
Title: Pathogenesis of Hypertrophic Cardiomyopathy is Mutation Rather Than Disease Specific: A Comparison of the Cardiac Troponin T E163R and R92Q Mouse Models.
TnTA30V mutation attenuated Ca(2+)-activated maximal tension and length-mediated cross-bridge recruitment against alpha-myosin heavy chain but augmented these parameters against beta-myosin heavy chain, suggesting divergent contractile phenotypes.
Title: Cardiomyopathy-related mutation (A30V) in mouse cardiac troponin T divergently alters the magnitude of stretch activation in α- and β-myosin heavy chain fibers.
The shift from cTnT exon 5 inclusion to exclusion during development was delayed in the heart of Ts65Dn mice due to Dyrk1A overexpression.
Title: Overexpression of Dyrk1A regulates cardiac troponin T splicing in cells and mice.
for hypertrophic cardiomyopathy (HCM)-causing mutations in TnT, Ca(2+)-sensitisation together with uncoupling in vitro is the usual response and both factors may contribute to the HCM phenotype
Title: Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation.
cardiomyopathy mutation (R97L) in mouse cardiac troponin T has an effect on the muscle length-mediated recruitment of crossbridges and is modified divergently by alpha- and beta-myosin heavy chain
Title: The effect of cardiomyopathy mutation (R97L) in mouse cardiac troponin T on the muscle length-mediated recruitment of crossbridges is modified divergently by α- and β-myosin heavy chain.
Data indicate that high-sensitivity troponin T (hs-TnT) levels are influenced by myocardial dysfunction/heart failure (HF) in acute exacerbation of chronic obstructive lung disease (AECOPD), but provide independent prognostic information.
Title: The influence of heart failure co-morbidity on high-sensitivity troponin T levels in COPD exacerbation in a prospective cohort study: data from the Akershus cardiac examination (ACE) 2 study.
cTnT elevation emerged as a strong, independent predictor of 30-day mortality and remained a modest, but significant, predictor throughout 2 years post transcatheter aortic valve implantation.
Title: Post-Procedural Troponin Elevation and Clinical Outcomes Following Transcatheter Aortic Valve Implantation.

Submit: New GeneRIF Correction See all GeneRIFs (52)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6) 1 citation
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tnnt2 (e-PCR), detects polymorphism
- UniSTS:480309

43.MMHAP26FRG10.seq (e-PCR)
- UniSTS:124496

L47570 (e-PCR)
- UniSTS:158857

Tnnt2 (e-PCR), detects polymorphism
- UniSTS:516601

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	ISO Inferred from Sequence Orthology more info
enables actin binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
contributes_to microfilament motor activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables protein-macromolecule adaptor activity	ISO Inferred from Sequence Orthology more info
enables structural constituent of cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
enables tropomyosin binding	IBA Inferred from Biological aspect of Ancestor more info
enables tropomyosin binding	ISO Inferred from Sequence Orthology more info
enables tropomyosin binding	ISS Inferred from Sequence or Structural Similarity more info
enables troponin C binding	IBA Inferred from Biological aspect of Ancestor more info
enables troponin C binding	ISO Inferred from Sequence Orthology more info
enables troponin C binding	ISS Inferred from Sequence or Structural Similarity more info
enables troponin I binding	IBA Inferred from Biological aspect of Ancestor more info
enables troponin I binding	ISO Inferred from Sequence Orthology more info
enables troponin I binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in actin crosslink formation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within atrial cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in muscle filament sliding	ISO Inferred from Sequence Orthology more info
involved_in muscle filament sliding	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of ATP-dependent activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ATP-dependent activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ATP-dependent activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ATP-dependent activity	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart contraction	ISO Inferred from Sequence Orthology more info
involved_in regulation of muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in regulation of muscle filament sliding speed	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to bacterium	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to calcium ion	ISO Inferred from Sequence Orthology more info
involved_in response to calcium ion	ISS Inferred from Sequence or Structural Similarity more info
involved_in sarcomere organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventricular cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular cardiac muscle tissue morphogenesis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of cardiac Troponin complex	ISO Inferred from Sequence Orthology more info
located_in cardiac myofibril	ISO Inferred from Sequence Orthology more info
located_in myofibril	IDA Inferred from Direct Assay more info	PubMed
located_in myofibril	ISO Inferred from Sequence Orthology more info
located_in sarcomere	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in striated muscle thin filament	ISO Inferred from Sequence Orthology more info
located_in striated muscle thin filament	ISS Inferred from Sequence or Structural Similarity more info
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
part_of troponin complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: troponin T, cardiac muscle

Names: cardiac TnT; cardiac muscle troponin T; tnTc

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.

mRNA and Protein(s)

NM_001130174.2 → NP_001123646.1 troponin T, cardiac muscle isoform a

See identical proteins and their annotated locations for NP_001123646.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.

Source sequence(s)

AC162441, AK146945

Consensus CDS

CCDS48375.1

UniProtKB/TrEMBL

Q6P3Z7

Related

ENSMUSP00000140941.2, ENSMUST00000188028.7

Conserved Domains (1) summary

pfam00992
Location:110 → 245

Troponin; Troponin
NM_001130175.2 → NP_001123647.4 troponin T, cardiac muscle isoform g

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (g) has a distinct N-terminus and is longer than isoform 1.

Source sequence(s)

AC162441

Conserved Domains (1) summary

pfam00992
Location:138 → 273

Troponin; Troponin
NM_001130176.1 → NP_001123648.1 troponin T, cardiac muscle isoform b

See identical proteins and their annotated locations for NP_001123648.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) includes an alternate exon in the 5' UTR, lacks an alternate in-frame exon in the 5' coding region, and includes an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (b) is shorter than isoform a.

Source sequence(s)

AC162441, BC063753, L47553

Consensus CDS

CCDS48377.1

UniProtKB/Swiss-Prot

P50752, Q64360, Q64377

UniProtKB/TrEMBL

Q3TH80, Q54AB6

Related

ENSMUSP00000107717.3, ENSMUST00000112087.9

Conserved Domains (1) summary

pfam00992
Location:106 → 244

Troponin
NM_001130177.2 → NP_001123649.1 troponin T, cardiac muscle isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (c) is shorter than isoform a.

Source sequence(s)

AC162441, AK163786, AK168393

UniProtKB/TrEMBL

Q3TH80

Conserved Domains (1) summary

pfam00992
Location:106 → 241

Troponin; Troponin
NM_001130178.2 → NP_001123650.1 troponin T, cardiac muscle isoform d

See identical proteins and their annotated locations for NP_001123650.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region, and includes an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.

Source sequence(s)

AC162441, AK169061, BQ554639

Consensus CDS

CCDS48376.1

Related

ENSMUSP00000139669.2, ENSMUST00000189732.7

Conserved Domains (1) summary

pfam00992
Location:100 → 238

Troponin; Troponin
NM_001130179.2 → NP_001123651.4 troponin T, cardiac muscle isoform h

Status: VALIDATED

Description

Transcript Variant: This variant (6) has multiple differences in the coding region, compared to variant 1. The encoded isoform (h) is longer than isoform a.

Source sequence(s)

AC162441, L47599

Conserved Domains (1) summary

pfam00992
Location:128 → 266

Troponin; Troponin
NM_001130180.2 → NP_001123652.1 troponin T, cardiac muscle isoform e

See identical proteins and their annotated locations for NP_001123652.1

Status: VALIDATED

Description

Transcript Variant: This variant (7) lacks two alternate in-frame exons in the 5' coding region, and includes an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (e) is shorter than isoform a.

Source sequence(s)

AC162441, L47552

Consensus CDS

CCDS48378.1

UniProtKB/TrEMBL

Q3TH80

Related

ENSMUSP00000139919.2, ENSMUST00000189355.7

Conserved Domains (1) summary

pfam00992
Location:96 → 234

Troponin
NM_001130181.2 → NP_001123653.4 troponin T, cardiac muscle isoform i

Status: VALIDATED

Description

Transcript Variant: This variant (8) has multiple differences in the coding region, compared to variant 1. The encoded isoform (i) is longer than isoform 1.

Source sequence(s)

AC162441, L47551

UniProtKB/TrEMBL

Q3TH80

Conserved Domains (1) summary

pfam00992
Location:124 → 262

Troponin; Troponin
NM_011619.3 → NP_035749.1 troponin T, cardiac muscle isoform f

See identical proteins and their annotated locations for NP_035749.1

Status: VALIDATED

Description

Transcript Variant: This variant (9) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. The resulting isoform (f) is shorter than isoform a.

Source sequence(s)

AC162441, L47600

UniProtKB/TrEMBL

Q3TH80

Conserved Domains (1) summary

pfam00992
Location:96 → 231

Troponin; Troponin