TNNT2 troponin T type 2 (cardiac) [Homo sapiens (human)] - Gene

Summary

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Official Symbol: TNNT2provided by HGNC
Official Full Name: troponin T type 2 (cardiac)provided by HGNC
Primary source: HGNC:11949
See related: Ensembl:ENSG00000118194; HPRD:01844; 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; 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]

Genomic context

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Location :: 1q32

Sequence :: Chromosome: 1; NC_000001.10 (201328142..201346805, complement)

See TNNT2 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

TropT predicts vascular events and all-cause mortality in patients with acute cerebral ischaemia and improves prediction beyond established clinical scores
Title: High-sensitivity troponin assay improves prediction of cardiovascular risk in patients with cerebral ischaemia.
For brain surgery cTnT was undetectable both before and after surgery.
Title: Perioperative serum brain natriuretic peptide and cardiac troponin in elective intracranial surgery.
Cardiac troponins I and T: molecular markers for early diagnosis, prognosis, and accurate triaging of patients with acute myocardial infarction.
Title: Cardiac troponins I and T: molecular markers for early diagnosis, prognosis, and accurate triaging of patients with acute myocardial infarction.
In community-derived perimenopausal women, hs-cTnT was associated with long-term mortality, independent of clinical risk factors.
Title: Highly sensitive cardiac troponin T and long-term mortality in a population of community-derived perimenopausal women: nested case-control study.
Circulating concentrations of hs-TnT in obese children with the Metabolic Syndrome are higher than those of the obese without the Metabolic Syndrome and the non-obese
Title: Increased circulating High-Sensitivity Troponin T concentrations in children and adolescents with obesity and the metabolic syndrome: a marker for early cardiac damage?
Greater levels of high-sensitivity troponin T, N-terminal pro-brain natriuretic peptide (Hs-TnT), NT-proBNP and high sensitivity C-reactive protein Hs-CRP are associated with increased risk of death, not just from cardiovascular disease(CVD)
Title: Troponin T, B-type natriuretic peptide, C-reactive protein, and cause-specific mortality.
Elevated cTnT levels are common in patients with acute respiratory distress syndrome.
Title: Prognostic significance of elevated cardiac troponin-T levels in acute respiratory distress syndrome patients.
Elevation of troponin T occurs in every seventh patient with acute ischemic stroke and is independently associated with poor short-term outcome and mortality.
Title: Frequency, determinants and outcome of elevated troponin in acute ischemic stroke patients.
combination of NT-proBNP and hsTnT of particular interest in risk-stratification in aortic stenosis
Title: High-sensitive troponin T and N-terminal-brain-natriuretic-peptide predict outcome in symptomatic aortic stenosis.
Almost all in-centre haemodialysis patients have elevated troponin T in their baseline stable state and this appears unchanged over a 2-week interval.
Title: Cardiac high-sensitivity troponin T measurement: a layer of complexity in managing haemodialysis patients.

Submit: New GeneRIF Correction See all (118)

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

Familial hypertrophic cardiomyopathy 2

MIM: 115195

Genetic Testing Registry

Summary from GeneReviews: Familial Hypertrophic Cardiomyopathy Overview

Hypertrophic cardiomyopathy (HCM), caused by mutation in one of the genes currently known to encode different components of the sarcomere, is characterized by left ventricular hypertrophy (LVH) in the absence of predisposing cardiac conditions (e.g., aortic stenosis) or cardiovascular conditions (e.g., long-standing hypertension). The clinical manifestations of HCM range from asymptomatic to progressive heart failure to sudden cardiac death and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood.

Diagnosis Testing

The diagnosis of HCM is most often established when two-dimensional echocardiography detects LVH in a nondilated ventricle; it can also be established by pathognomonic histopathologic findings in cardiac tissue. Familial HCM without multisystem involvement is diagnosed by family history and molecular genetic testing of any of the 14 genes currently known to encode different components of the sarcomere.

Genetic Counseling

Familial HCM caused by mutation in one of the genes currently known to encode different components of the sarcomere is inherited in an autosomal dominant manner. Formal genetic counseling can be used to identify those family members of a proband who are at increased risk for HCM.

Summary from GeneReviews: Dilated Cardiomyopathy Overview

Disease Characteristics

Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke .

Diagnosis Testing

Genetic forms of DCM must be distinguished from other identifiable causes. After exclusion of all identifiable non-genetic causes, DCM is traditionally referred to as idiopathic dilated cardiomyopathy. When two or more closely related family members meet a formal diagnostic standard for idiopathic dilated cardiomyopathy, the diagnosis of familial dilated cardiomyopathy (FDC) is made. The genetic forms of DCM are diagnosed by family history and molecular genetic testing.

Genetic Counseling

Genetic DCM can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Maternal mitochondrial inheritance has also been reported; however, mitochondrial forms of DCM, although highly variable in presentation (including mild adult-onset forms), are usually syndromic and thus outside the scope of this review. Genetic counseling and risk assessment depend on determination of the specific DCM subtype in an individual.

References

PMID: 20301486

Primary dilated cardiomyopathy

Genetic Testing Registry

Summary from GeneReviews: Dilated Cardiomyopathy Overview

Disease Characteristics

Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke .

Diagnosis Testing

Genetic forms of DCM must be distinguished from other identifiable causes. After exclusion of all identifiable non-genetic causes, DCM is traditionally referred to as idiopathic dilated cardiomyopathy. When two or more closely related family members meet a formal diagnostic standard for idiopathic dilated cardiomyopathy, the diagnosis of familial dilated cardiomyopathy (FDC) is made. The genetic forms of DCM are diagnosed by family history and molecular genetic testing.

Genetic Counseling

Genetic DCM can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Maternal mitochondrial inheritance has also been reported; however, mitochondrial forms of DCM, although highly variable in presentation (including mild adult-onset forms), are usually syndromic and thus outside the scope of this review. Genetic counseling and risk assessment depend on determination of the specific DCM subtype in an individual.

References

PMID: 20301486

NHGRI GWAS Catalog

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.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P45379	Q99683	MAP3K5	HPRD	PubMed
P45379	P17252	PRKCA	HPRD	PubMed
P45379	P63316	TNNC1	HPRD	PubMed
P45379	P19429	TNNI3	HPRD	PubMed
P45379	P09493	TPM1	HPRD	PubMed
BioGRID:112993	BioGRID:106848	APP	BioGRID	PubMed	Reconstituted Complex
BioGRID:112993	BioGRID:112988	TNNC1	BioGRID	PubMed	Two-hybrid
BioGRID:112993	BioGRID:112989	TNNI1	BioGRID	PubMed	Two-hybrid
BioGRID:112993	BioGRID:112991	TNNI3	BioGRID	PubMed	Reconstituted Complex
BioGRID:112993	BioGRID:113021	TPM1	BioGRID	PubMed	Reconstituted Complex
BioGRID:112993	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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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 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...
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....

General gene information

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Markers

GDB:435263 (e-PCR)
- UniSTS:157218

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

D1S2419 (e-PCR)
- UniSTS:22264

Genotypes

See TNNT2 SNP Geneview Report
See TNNT2 SNP Genotype Report
See TNNT2 SNP Variation Viewer Report

Homology

Homologs of the TNNT2 gene: The TNNT2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Clone Names

MGC3889

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to ATPase activity	IDA Inferred from Direct Assay more info	PubMed
actin binding	IDA Inferred from Direct Assay more info	PubMed
structural constituent of cytoskeleton	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
ATP catabolic process	IDA Inferred from Direct Assay more info	PubMed
atrial cardiac muscle tissue morphogenesis	IEA Inferred from Electronic Annotation more info
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
response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
response to calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
sarcomere organization	IEA Inferred from Electronic Annotation more info
ventricular cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
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

General protein information

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Preferred Names: troponin T, cardiac muscle

Names: troponin T, cardiac muscle; troponin T2, cardiac; cardiomyopathy, hypertrophic 2; cardiomyopathy, dilated 1D (autosomal dominant)

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

NG_007556.1 RefSeqGene

Range

4978..23670

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000364.3 → NP_000355.2 troponin T, cardiac muscle isoform 1

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

ENSP00000387874, ENST00000458432

Conserved Domains (1) summary

pfam00992
Location:203 – 244
Blast Score: 110

Troponin; Troponin
NM_001001430.2 → NP_001001430.1 troponin T, cardiac muscle isoform 2

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, OTTHUMP00000033867, ENST00000367318, OTTHUMT00000086925

Conserved Domains (1) summary

pfam00992
Location:190 – 237
Blast Score: 112

Troponin; Troponin
NM_001001431.2 → NP_001001431.1 troponin T, cardiac muscle isoform 3

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, OTTHUMP00000033864, ENST00000367322, OTTHUMT00000086921

Conserved Domains (1) summary

pfam00992
Location:193 – 234
Blast Score: 110

Troponin; Troponin
NM_001001432.2 → NP_001001432.1 troponin T, cardiac muscle isoform 4

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

UniProtKB/Swiss-Prot

P45379

UniProtKB/TrEMBL

Q15607

Related

ENSP00000353535, ENST00000360372

Conserved Domains (1) summary

pfam00992
Location:184 – 231
Blast Score: 113

Troponin; Troponin
NM_001276345.1 → NP_001263274.1 troponin T, cardiac muscle isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) encodes the longest isoform (5).

Source sequence(s)

AA865519, AJ709280, BC002653, L40162, X79855

UniProtKB/Swiss-Prot

P45379

Conserved Domains (1) summary

pfam00992
Location:200 – 247
Blast Score: 112

Troponin; Troponin
NM_001276346.1 → NP_001263275.1 troponin T, cardiac muscle isoform 6

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

UniProtKB/Swiss-Prot

P45379

Conserved Domains (1) summary

pfam00992
Location:163 – 204
Blast Score: 115

Troponin; Troponin
NM_001276347.1 → NP_001263276.1 troponin T, cardiac muscle isoform 2

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

UniProtKB/Swiss-Prot

P45379

Conserved Domains (1) summary

pfam00992
Location:190 – 237
Blast Score: 112

Troponin; Troponin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p10 Primary Assembly

Range

201328142..201346805, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

172494393..172513051, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018912.1 Alternate CHM1_1.0

Range

207865622..207884280, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01027534.1 (11935..30593)	None
genomic	AC119427.3 (112031..130694)	None
genomic	AF004415.1	AAC39590.1
genomic	AF004422.1	AAC39590.1
genomic	AMYH01001642.1 (98929..117587)	None
genomic	AY044273.1	AAK92231.1
genomic	AY160216.1	AAN71651.1
genomic	CH471067.1	EAW91353.1
		EAW91354.1
		EAW91355.1
		EAW91356.1
		EAW91357.1
		EAW91358.1
		EAW91359.1
		EAW91360.1
		EAW91361.1
		EAW91362.1
genomic	EF179183.1	ABN05286.1
genomic	S71128.1	AAB30957.1
genomic	Y09626.1	CAA70839.1
genomic	Y09627.1	CAA70840.1
genomic	Y09628.1	CAA70841.1
mRNA	AA865519.1	None
mRNA	AJ709280.1	None
mRNA	AK055533.1	None
mRNA	AK125236.1	None
mRNA	AK290621.1	BAF83310.1
mRNA	AK309493.1	None
mRNA	AL832707.1	None
mRNA	AY277394.1	AAP96757.1
mRNA	BC002653.2	AAH02653.1
mRNA	L40162.1	AAA67422.1
mRNA	S64668.1	AAB27731.1
mRNA	S71126.1	AAB30956.1
mRNA	X74819.1	CAA52818.1
mRNA	X79855.1	CAA56235.1
mRNA	X79856.1	CAA56236.1
mRNA	X79858.1	CAA56238.1
mRNA	X79859.1	CAA56239.1
mRNA	X79861.1	CAA56240.1
mRNA	X83743.1	None
mRNA	X83744.1	None
other-genetic	HQ447413.1	ADQ31899.1