Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TNNT2 Gene

Aliases for TNNT2 Gene

  • Troponin T2, Cardiac Type 2 3 5
  • Cardiomyopathy, Dilated 1D (Autosomal Dominant) 2 3
  • Cardiomyopathy, Hypertrophic 2 2 3
  • Troponin T Type 2 (Cardiac) 2 3
  • TnTC 3 4
  • CTnT 3 4
  • Truncated Cardiac Troponin T 3
  • Troponin T, Cardiac Muscle 3
  • Cardiac Muscle Troponin T 4
  • CMPD2 3
  • LVNC6 3
  • CMD1D 3
  • RCM3 3
  • CMH2 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 T2, Cardiac Type) is a Protein Coding gene. Diseases associated with TNNT2 include Cardiomyopathy, Dilated, 1D and Cardiomyopathy, Hypertrophic, 2. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Cardiac conduction. GO annotations related to this gene include actin binding and structural constituent of cytoskeleton. An important paralog of this gene is TNNT1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNNT2 Gene

Genomics for TNNT2 Gene

Regulatory Elements for TNNT2 Gene

Enhancers for TNNT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G201435 1.6 Ensembl ENCODE dbSUPER 11.4 -58.2 -58204 0.9 HNRNPUL1 HDGF MLX ARNT ZFP64 SIN3A ARID4B FEZF1 ZNF2 ZBTB7B IPO9-AS1 IPO9 ENSG00000224818 PHLDA3 LAD1 CSRP1 ENSG00000224536 TNNT2 ENSG00000235121 LOC101929367
GH01G201346 1 ENCODE dbSUPER 11.8 +31.2 31224 0.9 GTF2F1 CTCF PKNOX1 ZSCAN4 TEAD4 SIN3A RAD21 TEAD3 CTBP1 GATA3 PKP1 TNNT2 LAD1 ENSG00000229821 IGFN1 TMEM9 GC01M201335 LOC101929326
GH01G201347 0.9 ENCODE dbSUPER 11.9 +29.7 29695 1.2 SCRT1 CTCF ZNF654 MAX ZBTB7B RAD21 ZFHX2 CTBP1 POLR2A PATZ1 TNNT2 LAD1 PKP1 ENSG00000229821 IGFN1 TMEM9 LOC101929326 GC01M201335
GH01G201334 0.8 ENCODE dbSUPER 11.5 +42.5 42483 1.7 RAD51 ESRRA CEBPB CEBPG ATF2 EP300 PKP1 TNNT2 LAD1 IGFN1 TMEM9 GC01M201335 GC01P201285
GH01G201330 0.7 dbSUPER 11.5 +45.5 45451 3.9 KLF1 MAZ NFIB CEBPB NR3C1 CEBPG FOXA1 ZNF121 JUND ZNF341 PKP1 TNNT2 LAD1 IGFN1 TMEM9 GC01M201335 GC01P201285
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TNNT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TNNT2 Gene

Chromosome:
1
Start:
201,359,008 bp from pter
End:
201,377,765 bp from pter
Size:
18,758 bases
Orientation:
Minus strand

Genomic View for TNNT2 Gene

Genes around TNNT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNNT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

No data available for DME Specific Peptides for TNNT2 Gene

Domains & Families for TNNT2 Gene

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

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:0005515 protein binding IPI 25416956
GO:0005523 tropomyosin binding IDA 10850966
GO:0030172 troponin C binding IPI 8205619
GO:0030674 protein binding, bridging IEA --
genes like me logo Genes that share ontologies with TNNT2: view
genes like me logo Genes that share phenotypes with TNNT2: view

Human Phenotype Ontology for TNNT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNNT2 Gene

MGI Knock Outs for TNNT2:

miRNA for TNNT2 Gene

miRTarBase miRNAs that target TNNT2

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for TNNT2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNNT2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for TNNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005861 troponin complex IEA,IDA 12186860
GO:0005865 striated muscle thin filament IDA 12186860
GO:0030016 myofibril IEA --
GO:0030017 sarcomere TAS 16754800
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 & Interactions for TNNT2 Gene

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

Gene Ontology (GO) - Biological Process for TNNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction IEA --
GO:0006937 regulation of muscle contraction IEA --
GO:0008016 regulation of heart contraction IMP 15542288
GO:0030049 muscle filament sliding TAS --
GO:0032780 negative regulation of ATPase activity IDA 10850966
genes like me logo Genes that share ontologies with TNNT2: view

No data available for SIGNOR curated interactions for TNNT2 Gene

Drugs & Compounds for TNNT2 Gene

(4) Drugs for TNNT2 Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
TIRAMSETIV Pharma 0
calcium Nutra 0

(5) Additional Compounds for TNNT2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x31.9) and Heart - Atrial Appendage (x19.6).

Protein differential expression in normal tissues from HIPED for TNNT2 Gene

This gene is overexpressed in Heart (42.5) and Fetal heart (24.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TNNT2 Gene



Protein tissue co-expression partners for TNNT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TNNT2 Gene:

TNNT2

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.

Evidence on tissue expression from TISSUES for TNNT2 Gene

  • Heart(5)
  • Muscle(4.9)
  • Blood(4.5)
  • Nervous system(2.3)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TNNT2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with TNNT2: view

Primer 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 34 35
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia TNNT2 34 35
  • 91.56 (n)
rat
(Rattus norvegicus)
Mammalia Tnnt2 34
  • 90.48 (n)
mouse
(Mus musculus)
Mammalia Tnnt2 34 16 35
  • 89.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TNNT2 35
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TNNT2 34 35
  • 88.21 (n)
oppossum
(Monodelphis domestica)
Mammalia TNNT2 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves TNNT2 34 35
  • 78.42 (n)
lizard
(Anolis carolinensis)
Reptilia TNNT2 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493699 34
  • 66.81 (n)
zebrafish
(Danio rerio)
Actinopterygii tnnt2a 34 35
  • 72.17 (n)
TNNT2 (2 of 3) 35
  • 58 (a)
OneToMany
tnnt2c 35
  • 57 (a)
OneToMany
tnnt2 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.963 35
  • 52 (a)
ManyToMany
CSA.10162 35
  • 49 (a)
ManyToMany
Species where no ortholog for TNNT2 was found in the sources mined by GeneCards:
  • 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
rs121964855 Pathogenic, Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195] 201,365,638(-) CAAGA(A/T)CCCCG reference, missense
rs121964856 Pathogenic, Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195] 201,365,297(-) CCACC(A/G/T)GAAGC intron-variant, reference, missense
rs121964857 Pathogenic, Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195] 201,359,245(-) AGACC(C/T)GCGGG reference, missense
rs121964858 Pathogenic, Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195] 201,365,244(-) CTCAC(A/C/G/T)TTGAG intron-variant, reference, missense
rs121964860 Pathogenic, Cardiomyopathy, dilated 1D (CMD1D) [MIM:601494] 201,361,988(-) TGAGC(A/C/G/T)GGAAA reference, missense

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
nsv548997 CNV gain 21841781
nsv832315 CNV loss 17160897
nsv832326 CNV loss 17160897
nsv947466 CNV duplication 23825009

Variation tolerance for TNNT2 Gene

Residual Variation Intolerance Score: 36.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.37; 70.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TNNT2 Gene

Human Gene Mutation Database (HGMD)
TNNT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNNT2

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

Disorders for TNNT2 Gene

MalaCards: The human disease database

(33) MalaCards diseases for TNNT2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1d
  • left ventricular noncompaction 6
cardiomyopathy, hypertrophic, 2
  • hypertrophic cardiomyopathy 2
cardiomyopathy, familial restrictive, 3
  • rcm3
cardiomyopathy, dilated, 1dd
  • dilated cardiomyopathy 1dd
dilated cardiomyopathy
  • congestive cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards
Search TNNT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TNNT2_HUMAN
  • 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 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, 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.

Relevant External Links for TNNT2

Genetic Association Database (GAD)
TNNT2
Human Genome Epidemiology (HuGE) Navigator
TNNT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TNNT2
genes like me logo Genes that share disorders with TNNT2: view

No data available for Genatlas for TNNT2 Gene

Publications for TNNT2 Gene

  1. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PMID: 15563892) Song L. … Hui R. (Clin. Chim. Acta 2005) 3 4 22 46 64
  2. 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 22 46 64
  3. 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 22 64
  4. 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 22 64
  5. [Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil]. (PMID: 20414521) Marsiglia J.D. … AraA_jo A.Q. (Arq. Bras. Cardiol. 2010) 3 22 46 64

Products for TNNT2 Gene

Sources for TNNT2 Gene

Content
Loading form....