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

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: mouse all
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Genomic context

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_000001.11 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.
Title: Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.
De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy.
Title: De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy.
Cardiac troponin T as a postmortem biomarker for acute myocardial infarction.
Title: Cardiac troponin T as a postmortem biomarker for acute myocardial infarction.
Diagnostic and prognostic performance of the ratio between high-sensitivity cardiac troponin I and troponin T in patients with chest pain.
Title: Diagnostic and prognostic performance of the ratio between high-sensitivity cardiac troponin I and troponin T in patients with chest pain.
Coronary Atherosclerosis, Cardiac Troponin, and Interleukin-6 in Patients With Chest Pain: The PROMISE Trial Results.
Title: Coronary Atherosclerosis, Cardiac Troponin, and Interleukin-6 in Patients With Chest Pain: The PROMISE Trial Results.
Allele-specific silencing by RNAi of R92Q and R173W mutations in cardiac troponin T.
Title: Allele-specific silencing by RNAi of R92Q and R173W mutations in cardiac troponin T.
High-Sensitivity Cardiac Troponin T, Age, and Outcome in Non-ST-Elevation Myocardial Infarction.
Title: High-Sensitivity Cardiac Troponin T, Age, and Outcome in Non-ST-Elevation Myocardial Infarction.
Evaluation of Cardiac Troponin and Adverse Outcomes After Aneurysmal Subarachnoid Hemorrhage: A Systematic Review and Meta-Analysis.
Title: Evaluation of Cardiac Troponin and Adverse Outcomes After Aneurysmal Subarachnoid Hemorrhage: A Systematic Review and Meta-Analysis.
Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy.
Title: Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy.
The ratio of cardiac troponin T to troponin I may indicate non-necrotic troponin release among COVID-19 patients.
Title: The ratio of cardiac troponin T to troponin I may indicate non-necrotic troponin release among COVID-19 patients.

Submit: New GeneRIF Correction See all GeneRIFs (361)

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

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
Cardiomyopathy, familial restrictive, 3 MedGen: C2676271 OMIM: 612422 GeneReviews: Not available	Compare labs
Dilated cardiomyopathy 1D MedGen: C1832243 OMIM: 601494 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs
Hypertrophic cardiomyopathy 2 MedGen: C1861864 OMIM: 115195 GeneReviews: Hypertrophic Cardiomyopathy Overview	Compare labs
Primary dilated cardiomyopathy MedGen: C0007193 GeneReviews: Dilated Cardiomyopathy Overview	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

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

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

Process	Evidence Code	Pubs
involved_in cardiac muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in muscle filament sliding	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ATP-dependent activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ATP-dependent activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in response to calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sarcomere organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in ventricular cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype 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

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Preferred Names: troponin T, cardiac muscle

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

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

4998..23664

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_431

mRNA and Protein(s)

NM_000364.4 → NP_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:103 → 238

Troponin; Troponin
NM_001001430.3 → NP_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:93 → 231

Troponin
NM_001001431.3 → NP_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:93 → 228

Troponin; Troponin
NM_001001432.3 → NP_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

ENSP00000356286.5, ENST00000367317.8

Conserved Domains (1) summary

pfam00992
Location:88 → 225

Troponin; Troponin
NM_001276345.2 → NP_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:103 → 241

Troponin; Troponin
NM_001276346.2 → NP_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:98 → 198

Troponin; Troponin
NM_001276347.2 → NP_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:93 → 231

Troponin
NM_001406723.1 → NP_001393652.1 troponin T, cardiac muscle isoform 1

Status: REVIEWED

Source sequence(s)

AC119427
NM_001406724.1 → NP_001393653.1 troponin T, cardiac muscle isoform 2

Status: REVIEWED

Source sequence(s)

AC119427

Consensus CDS

CCDS30969.1
NM_001406725.1 → NP_001393654.1 troponin T, cardiac muscle isoform 7

Status: REVIEWED

Source sequence(s)

AC119427
NM_001406726.1 → NP_001393655.1 troponin T, cardiac muscle isoform 3

Status: REVIEWED

Source sequence(s)

AC119427
NM_001406727.1 → NP_001393656.1 troponin T, cardiac muscle isoform 3

Status: REVIEWED

Source sequence(s)

AC119427
NM_001406728.1 → NP_001393657.1 troponin T, cardiac muscle isoform 8

Status: REVIEWED

Source sequence(s)

AC119427

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

201359014..201377680 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011509943.3 → XP_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:88 → 226

Troponin; Troponin
XM_011509938.3 → XP_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

Related

ENSP00000236918.8, ENST00000236918.11

Conserved Domains (1) summary

pfam00992
Location:103 → 241

Troponin; Troponin
XM_011509944.3 → XP_011508246.1 troponin T, cardiac muscle isoform X6

UniProtKB/TrEMBL

E7EPW4

Conserved Domains (1) summary

pfam00992
Location:87 → 225

Troponin; Troponin
XM_011509941.3 → XP_011508243.1 troponin T, cardiac muscle isoform X4

Conserved Domains (1) summary

pfam00992
Location:102 → 239

Troponin; Troponin
XM_011509939.2 → XP_011508241.1 troponin T, cardiac muscle isoform X3

UniProtKB/Swiss-Prot

P45379

Conserved Domains (1) summary

pfam00992
Location:102 → 240

Troponin; Troponin
XM_011509940.3 → XP_011508242.1 troponin T, cardiac muscle isoform X2

UniProtKB/Swiss-Prot

P45379

Conserved Domains (1) summary

pfam00992
Location:103 → 240

Troponin; Troponin
XM_047429478.1 → XP_047285434.1 troponin T, cardiac muscle isoform X7
XM_011509946.2 → XP_011508248.1 troponin T, cardiac muscle isoform X7

UniProtKB/TrEMBL

E7EPW4

Conserved Domains (1) summary

pfam00992
Location:34 → 172

Troponin