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Aliases & Descriptions for TNNT2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CMD1D 5 CMH2 2 , 5 CMPD2 2 MGC3889 2 OTTHUMP00000033864 2 OTTHUMP00000033867 2 RCM3 2 , 5 TnTC 2 TnTc 3 cTnT 2 , 3
Descriptions Cardiac muscle troponin T 3 cardiomyopathy, dilated 1D (autosomal dominant) 2 cardiomyopathy, hypertrophic 2 1 , 2 troponin T type 2 (cardiac) 2 troponin T type 2, cardiac 2 troponin T, cardiac muscle 2 troponin T2, cardiac 1 , 2
Search outside databases for aliases for TNNT2 genePrevious GC identifers: GC01P199302 GC01P197036 GC01M197794 GC01M198616 GC01M198059
Summaries for TNNT2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for TNNT2 : The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, whichis located on the thin filament of striated muscles and regulates muscle contraction in responseto alterations in intracellular calcium ion concentration. Mutations in this gene have beenassociated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy.Transcripts for this gene undergo alternative splicing that results in many tissue-specificisoforms, however, the full-length nature of some of these variants has not yet been determined.[provided by RefSeq] UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379 Function : Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatorycomplex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity
Gene Wiki entry for TNNT2
Genomic Location for TNNT2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the TNNT2 gene Entrez Gene cytogenetic band: 1q32 Ensembl cytogenetic band: 1q32.1 HGNC cytogenetic band: 1q32 TNNT2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01M199594:
(about GC identifiers )
Start:
199,594,759 bp from pter
End:
199,613,431 bp from pter
Size:
18,673 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000001.9 NT_004487.18 Proteins for TNNT2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379 (See
protein sequence )Recommended Name: Troponin T, cardiac muscle Size : 298 amino acids; 35924 Da
PDB structure from and Proteopedia : 1J1D (3D)
 1J1E (3D)
 
Secondary accessions : A8K3K6 O60214 Q99596 Q99597 Q9UM96Alternative splicing : 10 isoforms : P45379-1 P45379-2 P45379-3 P45379-4 P45379-5 P45379-6 P45379-7 P45379-8 P45379-9 P45379-10 (Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms)
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (4 alternative transcripts):
NP_000355.2 NP_001001430.1 NP_001001431.1 NP_001001432.1 ENSEMBL proteins: ENSP00000350511 ENSP00000236918 ENSP00000356286 ENSP00000356287 ENSP00000353535 ENSP00000356291 ENSP00000356289 ENSP00000356288 ENSP00000356284 Human Recombinant Proteins                OriGene Purified Recombinant Human Proteins (see all 2 ): TNNT2 1 Gene Ontology (GO) cellular component term (links to tree view) :
About this table Antibodies for TNNT2: Assays for TNNT2:
Protein
Domains/ Families for TNNT2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P45379 ProtoNet protein and cluster: P45379
1 Blocks protein family : IPB001978 Troponin UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379 Similarity : Belongs to the troponin T family
Gene Function for TNNT2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_000364 Applied Biosystems Silencer ® siRNAs for TNNT2 Sigma-Aldrich siRNA and siRNA Panels for TNNT2 Sigma-Aldrich shRNA for TNNT2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_000364                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_000364                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_000364  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000364 UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379 Function : Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatorycomplex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity
Genatlas biochemistry entry for TNNT2 :troponin T2,component of the troponin complex forming the calcium-sensitive molecular switch thatregulates striated muscle contraction in response to modifications in intracellularconcentration,cardiac muscle,regulating striated muscle contraction in response to alterations inintracellular calcium concentration,including multiple isoforms,involved in the attachment of thecomplex to tropomyosin and troponin I
7 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Tnnt2) :4 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for TNNT2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for TNNT2 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for TNNT2 5/69 Interacting proteins for TNNT2 (ENSP00000356286 3 ) via UniProtKB, MINT, and/or STRING (see all 69
)About this table 5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
):
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Drugs & Compounds for TNNT2 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for TNNT2 3 Novoseek chemical compound relationships for TNNT2 gene
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Transcripts for TNNT2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
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OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_000364 Sigma-Aldrich siRNA and siRNA Panels for TNNT2 Sigma-Aldrich shRNA for TNNT2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000364 NM_001001430 NM_001001431 NM_001001432
REFSEQ mRNAs for TNNT2 gene (4 alternative transcripts): NM_000364.2 NM_001001430.1 NM_001001431.1 NM_001001432.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000364 NM_001001430 NM_001001431 NM_001001432
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_000364                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_000364                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_000364  
Additional cDNA sequence: AK290621.1 AK309493.1 AL832707.1 AY277394.1 BC002653.2 L40162.1 S64668.1 X74819.1 X79855.1 X79856.1 X79858.1 X79859.1 X79861.1 X83743.1 X83744.1
18 DOTS entries : DT.118095 DT.121454721 DT.100754093 DT.91695044 DT.100655158 DT.40208592 DT.99954344 DT.121454688 DT.95158177 DT.92424285 DT.95158176 DT.102842687 DT.121454692 DT.40208593 DT.87016979 DT.92424281 DT.95158182 DT.121454687
24/147 AceView cDNA sequences (see all 147
):NM_001001431 CA438630 AJ709472 AA362046 AJ709042 NM_000364 X79858 T28266 AJ706904 AY277394 NM_001001432 C05166 C04363 AJ709028 AJ706907 N87772 AI338772 AJ708802 AJ708866 C05043 AI367750 C04915 CF551854 AJ709460
highest scoring ESTs for TNNT2 :AA089987 AA092121 AA093091 AA093216 AA249219 AJ706750 AJ706854 AJ707426 AJ708269 AJ708444
Unigene Cluster for TNNT2: Troponin T type 2 (cardiac) Hs.533613 [show with all ESTs ] Unigene Representative Sequence: AL832707 GeneLoc Exon Structure 9 Ensembl transcripts including schematic representations : ENST00000357848
ENST00000236918
ENST00000367317
ENST00000367318
ENST00000360372
ENST00000367322
ENST00000367320
ENST00000367319
ENST00000367315
Expression for TNNT2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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TNNT2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for TNNT2 1 / 2 / 3
3 probe-sets matching TNNT2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: ATGCATTTTGSOURCE GeneReport for Unigene cluster: Hs.533613 Expression variation in blood from EXPOLDB for TNNT2
UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379 Tissue specificity : Heart. The fetal heart shows a greater expression in the atrium than in theventricle, 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
Orthologs for TNNT2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for TNNT2 gene from 5/7 species (see all 7
)
About this table Species with no ortholog for TNNT2 ENSEMBL Gene Tree for TNNT2 Paralogs for TNNT2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for TNNT2 gene TNNT1 2 TNNT3 2
SNPs/Variants for TNNT2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for TNNT2 (up to first 250kb)
Disorders & Mutations for TNNT2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 191045 disorders : 115195 601494 612422 UniProtKB/Swiss-Prot: TNNT2_HUMAN, P45379
Defects in TNNT2 are the cause of cardiomyopathy familial hypertrophic type 2 (CMH2)[MIM:115195]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized byventricular hypertrophy, which is usually asymmetric and often involves the interventricularseptum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can bereadily provoked by exercise. The disorder has inter- and intrafamilial variability ranging frombenign to malignant forms with high risk of cardiac failure and sudden cardiac death Defects in TNNT2 are the cause of cardiomyopathy dilated type 1D (CMD1D) [MIM:601494].Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolicfunction, resulting in congestive heart failure and arrhythmia. Patients are at risk of prematuredeath Defects in TNNT2 are the cause of cardiomyopathy familial restrictive type 3 (RCM3)[MIM:612422]. Restrictive cardiomyopathy is a heart disorder characterized by impaired filling ofthe ventricles with reduced diastolic volume, in the presence of normal or near normal wallthickness and systolic function
10/22 Novoseek disease relationships for TNNT2 gene (see all 22
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
death sudden cardiac
57.81
1
12881443 (1)
dilated cardiomyopathy
56.19
4
11967535 (1), 11779518 (1), 14654368 (1), 16093482 (1)
death sudden
52.34
4
11857753 (1), 14563299 (1), 11967535 (1), 11779518 (1)
acute myocardial infarction
49.03
14
12649923 (3), 9857757 (1), 17926199 (1), 9028628 (1) (see all 9 )
ventricular hypertrophy
47.88
5
10462276 (2), 17289431 (1), 9714088 (1), 14986170 (1)
heart failure
45.33
6
15819505 (1), 14697983 (1), 17289431 (1), 11967535 (1) (see all 5 )
myocardial infarction
44.68
4
12815787 (1), 12955276 (1), 14662251 (1)
hypertrophy
41.08
2
12881443 (1), 9714088 (1)
cardiac hypertrophy
40.68
2
11857753 (1), 14986170 (1)
myopathy
40.23
7
11026100 (2), 9857757 (1), 9028628 (1), 10094373 (1)
About this table GeneTests: TNNT2 Dilated Cardiomyopathy Human Gene Mutation Database : TNNT2 Genetic Association Database: TNNT2 Human Genome Epidemiology Navigator: TNNT2 (21 documents)
Medical News for TNNT2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for TNNT2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/211 PubMed articles for TNNT2 gene (see all 211
): Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. (PubMed id 15769782) 1, 3, 4, 6 Villard E.... Komajda M. (2005) A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy. (PubMed id 9482583) 1, 2, 3, 4 Gerull B....Thierfelder L. (1998) Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PubMed id 15563892) 1, 3, 4, 6 Song L.... Hui R. (2005) Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q. (PubMed id 8088824) 1, 2, 3, 4 Townsend P.J.... Barton P.J.R. (1994) Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PubMed id 16199542) 1, 3, 4, 6 Ingles J.... Semsarian C. (2005) The role of a common TNNT2 polymorphism in cardiac hypertrophy. (PubMed id 14986170) 1, 3, 6 Komamura K....Miyatake K. (2004) Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. (PubMed id 9140840) 1, 3, 4 Nakajima-Taniguchi C....Yamauchi-Takihara K. (1997) Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy. (PubMed id 8989109) 1, 3, 4 Forissier J.F....Schwartz K. (1996) Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. (PubMed id 11034944) 1, 3, 4 Ho C.Y....Seidman C.E. (2000) Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. (PubMed id 15542288) 1, 3, 4 Mogensen J....McKenna W.J. (2004)
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Genome Databases showing TNNT2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing TNNT2
(According to HUGE )
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Specialized Databases showing TNNT2 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
Familial hypertrophic cardiomyopathy mutation database http://www.angis.org.au/Databases/Heart/heartbreak.html GeneReviews http://www.genetests.org/query?gene=TNNT2
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-- Services for TNNT2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009