Human Gene TNNT2 (ENST00000367315.6) Description and Page Index
  Description: troponin T2, cardiac type (from HGNC TNNT2)
RefSeq Summary (NM_001001430): 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].
Gencode Transcript: ENST00000367315.6
Gencode Gene: ENSG00000118194.20
Transcript (Including UTRs)
   Position: hg38 chr1:201,359,015-201,373,266 Size: 14,252 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg38 chr1:201,359,210-201,373,254 Size: 14,045 Coding Exon Count: 14 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesGeneReviews
Methods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:201,359,015-201,373,266)mRNA (may differ from genome)Protein (291 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: TNNT2
Diseases sorted by gene-association score: cardiomyopathy, dilated, 1d* (1345), cardiomyopathy, hypertrophic, 2* (1224), cardiomyopathy, familial restrictive, 3* (919), tnnt2-related familial restrictive cardiomyopathy* (500), familial isolated restrictive cardiomyopathy* (350), cardiomyopathy* (338), cardiomyopathy, dilated, 1dd* (283), rbm20-related dilated cardiomyopathy* (283), dilated cardiomyopathy* (263), atrial standstill, digenic* (163), tnnt2-related dilated cardiomyopathy* (100), tnnt2-related familial hypertrophic cardiomyopathy* (100), familial isolated dilated cardiomyopathy* (88), left ventricular noncompaction* (47), myocardial stunning (13), progressive familial heart block, type ii (13), acute myocardial infarction (12), cardiomyopathy, familial hypertrophic (11), progressive familial heart block (10), heart disease (10), restrictive cardiomyopathy (9), intermediate coronary syndrome (9), cardiac arrest (9), pericarditis (7), al amyloidosis (7), gas gangrene (7), intermittent claudication (7), pulmonary embolism (6), intrinsic cardiomyopathy (6), ventricular fibrillation, familial, 1 (5), myocardial infarction (4), duchenne muscular dystrophy (3), tetralogy of fallot (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2058.86 RPKM in Heart - Left Ventricle
Total median expression: 3726.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -60.20195-0.309 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  S64668 - troponin T [human, heart, mRNA, 1086 nt].
X74819 - H.sapiens mRNA for cardiac troponin T.
AL832707 - Homo sapiens mRNA; cDNA DKFZp313E1935 (from clone DKFZp313E1935).
AK055533 - Homo sapiens cDNA FLJ30971 fis, clone HEART2000448, moderately similar to TROPONIN T, CARDIAC MUSCLE ISOFORMS.
AY277394 - Homo sapiens troponin T cardiac isoform (HNTN1) mRNA, complete cds.
BC002653 - Homo sapiens troponin T type 2 (cardiac), mRNA (cDNA clone MGC:3889 IMAGE:3612968), complete cds.
AK125236 - Homo sapiens cDNA FLJ43246 fis, clone HEART1000139.
X79857 - H.sapiens HTNT4 mRNA for cardiac troponin T.
JD148826 - Sequence 129850 from Patent EP1572962.
L40162 - Homo sapiens troponin T cardiac isoform mRNA, 3' end of cds.
JD399533 - Sequence 380557 from Patent EP1572962.
AK290621 - Homo sapiens cDNA FLJ77070 complete cds, highly similar to Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 2, mRNA.
JD318837 - Sequence 299861 from Patent EP1572962.
JD364465 - Sequence 345489 from Patent EP1572962.
JD130872 - Sequence 111896 from Patent EP1572962.
JD236042 - Sequence 217066 from Patent EP1572962.
JD338165 - Sequence 319189 from Patent EP1572962.
JD398266 - Sequence 379290 from Patent EP1572962.
JD399736 - Sequence 380760 from Patent EP1572962.
S71125 - troponin T {skipped exon 15} [human, familial hypertrophic cardiomyopathy, family AU, lymphocytes, mRNA Partial Mutant, 63 nt].
HQ447413 - Synthetic construct Homo sapiens clone IMAGE:100070736; CCSB004099_04 troponin T type 2 (cardiac) (TNNT2) gene, encodes complete protein.
KJ892299 - Synthetic construct Homo sapiens clone ccsbBroadEn_01693 TNNT2 gene, encodes complete protein.
KR709931 - Synthetic construct Homo sapiens clone CCSBHm_00007871 TNNT2 (TNNT2) mRNA, encodes complete protein.
KR709932 - Synthetic construct Homo sapiens clone CCSBHm_00007907 TNNT2 (TNNT2) mRNA, encodes complete protein.
S71126 - troponin T {exons 14-15} [human, familial hypertrophic cardiomyopathy, family AU, lymphocytes, mRNA Partial Mutant, 84 nt].
X83743 - Homo sapiens mRNA for cardiac troponin T (adult isoform).
X83744 - Homo sapiens mRNA for cardiac troponin T.
CU678094 - Synthetic construct Homo sapiens gateway clone IMAGE:100018735 5' read TNNT2 mRNA.
AK309493 - Homo sapiens cDNA, FLJ99534.
X79861 - H.sapiens TNT6-1/HTNT1 mRNA for cardiac troponin T.
X79859 - H.sapiens HTNT5-7 mRNA for cardiac troponin T.
X79856 - H.sapiens HTNT5B mRNA for cardiac troponin T.
X79855 - H.sapiens HTNT5A mRNA for cardiac troponin T.
X79858 - H.sapiens HTNT3 mRNA for cardiac troponin T.
JD522012 - Sequence 503036 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04260 - Cardiac muscle contraction
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05414 - Dilated cardiomyopathy

-  Other Names for This Gene
  Alternate Gene Symbols: A0A0A0MRJ4, uc057ohi.1, X74819
UCSC ID: uc057ohi.1
RefSeq Accession: NM_001001430
CCDS: CCDS30968.1, CCDS30969.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TNNT2:
hyper-card (Hypertrophic Cardiomyopathy Overview)
dcm-ov (Dilated Cardiomyopathy Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.