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Aliases for TNNT2 Gene

Aliases for TNNT2 Gene

  • Troponin T Type 2 (Cardiac) 2 3
  • Cardiomyopathy, Dilated 1D (Autosomal Dominant) 2 3
  • Cardiomyopathy, Hypertrophic 2 2 3
  • Troponin T2, Cardiac 2 3
  • LVNC6 3 6
  • CMD1D 3 6
  • TnTC 3 4
  • RCM3 3 6
  • CMH2 3 6
  • CTnT 3 4
  • Troponin T, Cardiac Muscle 3
  • Cardiac Muscle Troponin T 4
  • CMPD2 3

External Ids for TNNT2 Gene

Previous HGNC Symbols for TNNT2 Gene

  • CMH2
  • CMD1D

Previous GeneCards Identifiers for TNNT2 Gene

  • GC01P199302
  • GC01P197036
  • GC01M197794
  • GC01M198616
  • GC01M198059
  • GC01M199594
  • GC01M201328
  • GC01M172495

Summaries for TNNT2 Gene

Entrez Gene Summary for TNNT2 Gene

  • 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]

GeneCards Summary for TNNT2 Gene

TNNT2 (Troponin T Type 2 (Cardiac)) is a Protein Coding gene. Diseases associated with TNNT2 include cardiomyopathy, familial hypertrophic, 2 and cardiomyopathy, dilated, 1d. Among its related pathways are Cardiac Progenitor Differentiation and Cytoskeletal Signaling. GO annotations related to this gene include actin binding and structural constituent of cytoskeleton. An important paralog of this gene is TNNT3.

UniProtKB/Swiss-Prot for TNNT2 Gene

  • Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity

Gene Wiki entry for TNNT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNNT2 Gene

Genomics for TNNT2 Gene

Regulatory Elements for TNNT2 Gene

Genomic Location for TNNT2 Gene

Start:
201,359,008 bp from pter
End:
201,377,762 bp from pter
Size:
18,755 bases
Orientation:
Minus strand

Genomic View for TNNT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TNNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNNT2 Gene

Proteins for TNNT2 Gene

neXtProt entry for TNNT2 Gene

Proteomics data for TNNT2 Gene at MOPED

Post-translational modifications for TNNT2 Gene

  • Phosphorylation at Thr-213 by PRKCA induces significant reduction in myofilament calcium sensitivity and actomyosin ATPase activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TNNT2 (TNNT2)

No data available for DME Specific Peptides for TNNT2 Gene

Domains for TNNT2 Gene

Protein Domains for TNNT2 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P45379

UniProtKB/Swiss-Prot:

TNNT2_HUMAN :
  • P45379
Family:
  • Belongs to the troponin T family.
genes like me logo Genes that share domains with TNNT2: view

No data available for Gene Families for TNNT2 Gene

Function for TNNT2 Gene

Molecular function for TNNT2 Gene

GENATLAS Biochemistry: troponin T2,component of the troponin complex forming the calcium-sensitive molecular switch that regulates striated muscle contraction in response to modifications in intracellular concentration,cardiac muscle,regulating striated muscle contraction in response to alterations in intracellular calcium concentration,including multiple isoforms,involved in the attachment of the complex to tropomyosin and troponin I
UniProtKB/Swiss-Prot Function: Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity

Gene Ontology (GO) - Molecular Function for TNNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 8205619
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005515 protein binding IPI 25416956
GO:0005523 tropomyosin binding IDA 10850966
GO:0016887 contributes_to ATPase activity IDA 12093807
genes like me logo Genes that share ontologies with TNNT2: view
genes like me logo Genes that share phenotypes with TNNT2: view

Animal Models for TNNT2 Gene

MGI Knock Outs for TNNT2:

Animal Model Products

miRNA for TNNT2 Gene

miRTarBase miRNAs that target TNNT2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for TNNT2 Gene

Localization for TNNT2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TNNT2 Gene COMPARTMENTS Subcellular localization image for TNNT2 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
extracellular 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TNNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005861 troponin complex IDA 12093807
GO:0005865 striated muscle thin filament IDA 12186860
GO:0030016 myofibril --
genes like me logo Genes that share ontologies with TNNT2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TNNT2 Gene

Pathways for TNNT2 Gene

genes like me logo Genes that share pathways with TNNT2: view

Pathways by source for TNNT2 Gene

1 Cell Signaling Technology pathway for TNNT2 Gene
2 Reactome pathways for TNNT2 Gene

Gene Ontology (GO) - Biological Process for TNNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006936 muscle contraction --
GO:0006937 regulation of muscle contraction IEA --
GO:0007507 heart development --
GO:0008016 regulation of heart contraction IMP 15542288
genes like me logo Genes that share ontologies with TNNT2: view

Compounds for TNNT2 Gene

(1) HMDB Compounds for TNNT2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(7) Novoseek inferred chemical compound relationships for TNNT2 Gene

Compound -log(P) Hits PubMed IDs
creatinine 60.9 40
heparin 15.2 4
fatty acid 11.7 2
ptca 11.3 2
lactate 7.86 2
genes like me logo Genes that share compounds with TNNT2: view

Transcripts for TNNT2 Gene

Unigene Clusters for TNNT2 Gene

Troponin T type 2 (cardiac):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TNNT2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TNNT2 Gene

No ASD Table

Relevant External Links for TNNT2 Gene

GeneLoc Exon Structure for
TNNT2
ECgene alternative splicing isoforms for
TNNT2

Expression for TNNT2 Gene

mRNA expression in normal human tissues for TNNT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNNT2 Gene

This gene is overexpressed in Heart - Left Ventricle (31.9) and Heart - Atrial Appendage (19.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TNNT2 Gene

SOURCE GeneReport for Unigene cluster for TNNT2 Gene Hs.533613

mRNA Expression by UniProt/SwissProt for TNNT2 Gene

P45379-TNNT2_HUMAN
Tissue specificity: Heart. The fetal heart shows a greater expression in the atrium than in the ventricle, while the adult heart shows a greater expression in the ventricle than in the atrium. Isoform 6 predominates in normal adult heart. Isoforms 1, 7 and 8 are expressed in fetal heart. Isoform 7 is also expressed in failing adult heart
genes like me logo Genes that share expressions with TNNT2: view

In Situ Assay Products

Orthologs for TNNT2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNNT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNNT2 35
  • 99.41 (n)
  • 99.65 (a)
TNNT2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TNNT2 35
  • 88.21 (n)
  • 95.63 (a)
TNNT2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TNNT2 35
  • 91.56 (n)
  • 95.92 (a)
TNNT2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnnt2 35
  • 89.75 (n)
  • 95.24 (a)
Tnnt2 16
Tnnt2 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TNNT2 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TNNT2 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnnt2 35
  • 90.48 (n)
  • 96.97 (a)
chicken
(Gallus gallus)
Aves TNNT2 35
  • 78.42 (n)
  • 82.59 (a)
TNNT2 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TNNT2 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493699 35
  • 66.81 (n)
  • 72.89 (a)
zebrafish
(Danio rerio)
Actinopterygii tnnt2 35
TNNT2 (2 of 3) 36
  • 58 (a)
OneToMany
tnnt2a 35
  • 72.17 (n)
  • 75.47 (a)
tnnt2a 36
  • 65 (a)
OneToMany
tnnt2c 36
  • 57 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10162 36
  • 49 (a)
ManyToMany
CSA.963 36
  • 52 (a)
ManyToMany
Species with no ortholog for TNNT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TNNT2 Gene

ENSEMBL:
Gene Tree for TNNT2 (if available)
TreeFam:
Gene Tree for TNNT2 (if available)

Paralogs for TNNT2 Gene

Paralogs for TNNT2 Gene

genes like me logo Genes that share paralogs with TNNT2: view

Variants for TNNT2 Gene

Sequence variations from dbSNP and Humsavar for TNNT2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs868407 -- 201,372,213(+) ACACA(C/T)GCCTG intron-variant
rs946638 -- 201,379,134(+) GAGGA(C/G)CACCA upstream-variant-2KB
rs946639 -- 201,379,135(+) AGGAC(C/G)ACCAC upstream-variant-2KB
rs947485 -- 201,376,224(-) TTGCT(C/T)TACTC intron-variant
rs947486 -- 201,376,076(-) TTGCC(C/T)TGCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TNNT2 Gene

Variant ID Type Subtype PubMed ID
nsv467961 CNV Gain 19166990
nsv470776 CNV Gain 18288195
nsv832315 CNV Loss 17160897
nsv832326 CNV Loss 17160897

Relevant External Links for TNNT2 Gene

HapMap Linkage Disequilibrium report
TNNT2
Human Gene Mutation Database (HGMD)
TNNT2
Locus Specific Mutation Databases (LSDB)
TNNT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNNT2 Gene

Disorders for TNNT2 Gene

(3) OMIM Diseases for TNNT2 Gene (191045)

UniProtKB/Swiss-Prot

TNNT2_HUMAN
  • Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:10525521, ECO:0000269 PubMed:11034944, ECO:0000269 PubMed:12707239, ECO:0000269 PubMed:12974739, ECO:0000269 PubMed:15563892, ECO:0000269 PubMed:16199542, ECO:0000269 PubMed:21846512, ECO:0000269 PubMed:7898523, ECO:0000269 PubMed:8205619, ECO:0000269 PubMed:8989109, ECO:0000269 PubMed:9060892, ECO:0000269 PubMed:9140840, ECO:0000269 PubMed:9482583, ECO:0000269 Ref.19}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1D (CMD1D) [MIM:601494]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:11106718, ECO:0000269 PubMed:11684629, ECO:0000269 PubMed:15542288, ECO:0000269 PubMed:15769782, ECO:0000269 PubMed:21846512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial restrictive 3 (RCM3) [MIM:612422]: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. {ECO:0000269 PubMed:16651346}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(24) Novoseek inferred disease relationships for TNNT2 Gene

Disease -log(P) Hits PubMed IDs
death sudden cardiac 61.5 3
dilated cardiomyopathy 61.5 6
death sudden 57.9 4
cardiomyopathy 48.4 3
acute myocardial infarction 48.4 11

Relevant External Links for TNNT2

GeneTests
TNNT2
GeneReviews
TNNT2
Genetic Association Database (GAD)
TNNT2
Human Genome Epidemiology (HuGE) Navigator
TNNT2
genes like me logo Genes that share disorders with TNNT2: view

Publications for TNNT2 Gene

  1. A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy. (PMID: 9482583) Gerull B. … Thierfelder L. (Hum. Mutat. 1998) 2 3 4 23
  2. Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q. (PMID: 8088824) Townsend P.J. … Barton P.J.R. (Genomics 1994) 2 3 4 23
  3. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PMID: 15563892) Song L. … Hui R. (Clin. Chim. Acta 2005) 3 4 23 48
  4. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. (PMID: 15769782) Villard E. … Komajda M. (Eur. Heart J. 2005) 3 4 23 48
  5. Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. (PMID: 9140840) Nakajima-Taniguchi C. … Yamauchi-Takihara K. (J. Mol. Cell. Cardiol. 1997) 3 4 23

Products for TNNT2 Gene

Sources for TNNT2 Gene

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