Human Gene TNNT3 (ENST00000278317.11_7) from GENCODE V47lift37
  Description: troponin T3, fast skeletal type, transcript variant 1 (from RefSeq NM_006757.4)
Gencode Transcript: ENST00000278317.11_7
Gencode Gene: ENSG00000130595.20_16
Transcript (Including UTRs)
   Position: hg19 chr11:1,940,933-1,959,932 Size: 19,000 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr11:1,944,105-1,959,722 Size: 15,618 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:1,940,933-1,959,932)mRNA (may differ from genome)Protein (258 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TNNT3_HUMAN
DESCRIPTION: RecName: Full=Troponin T, fast skeletal muscle; Short=TnTf; AltName: Full=Beta-TnTF; AltName: Full=Fast skeletal muscle troponin T; Short=fTnT;
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.
TISSUE SPECIFICITY: In fetal and adult fast skeletal muscles, with a higher level expression in fetal than in adult muscle.
DISEASE: Defects in TNNT3 are a cause of distal arthrogryposis type 2B (DA2B) [MIM:601680]; also known as arthrogryposis multiplex congenita, distal, type 2B (AMCD2B). DA2B is a form of inherited multiple congenital contractures. Affected individuals have vertical talus, ulnar deviation in the hands, severe camptodactyly, and a distinctive face characterized by a triangular shape, prominent nasolabial folds, small mouth and a prominent chin.
SIMILARITY: Belongs to the troponin T family.
SEQUENCE CAUTION: Sequence=AAH50446.1; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNNT3";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TNNT3
Diseases sorted by gene-association score: arthrogryposis, distal, type 2b* (1650), arthrogryposis, distal, type 5* (231), distal arthrogryposis* (224), arthrogryposis multiplex congenita, distal, type 1* (157), tnnt3-related arthrogryposis multiplex congenita, distal, type 2b* (100), clubfoot (8), fissured tongue (8), myopathy of extraocular muscle (6), congenital contractures (6), tongue disease (5), congenital fiber-type disproportion (4)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 943.02 RPKM in Muscle - Skeletal
Total median expression: 1046.57 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
5' UTR -14.9078-0.191 Picture PostScript Text
3' UTR -88.00210-0.419 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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001978 - Troponin

Pfam Domains:
PF00992 - Troponin

SCOP Domains:
90250 - Troponin coil-coiled subunits

ModBase Predicted Comparative 3D Structure on P45378
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005523 tropomyosin binding
GO:0030172 troponin C binding
GO:0031013 troponin I binding
GO:0048306 calcium-dependent protein binding
GO:0003779 actin binding
GO:0030899 calcium-dependent ATPase activity

Biological Process:
GO:0003009 skeletal muscle contraction
GO:0006937 regulation of muscle contraction
GO:0006942 regulation of striated muscle contraction
GO:0030049 muscle filament sliding
GO:0043462 regulation of ATPase activity

Cellular Component:
GO:0005829 cytosol
GO:0005861 troponin complex


-  Descriptions from all associated GenBank mRNAs
  BC062430 - Homo sapiens troponin T type 3 (skeletal, fast), mRNA (cDNA clone IMAGE:4328022), partial cds.
BX640689 - Homo sapiens mRNA; cDNA DKFZp779M2348 (from clone DKFZp779M2348); complete cds.
BC050446 - Homo sapiens troponin T type 3 (skeletal, fast), mRNA (cDNA clone IMAGE:6202013).
BC022275 - Homo sapiens cDNA clone IMAGE:4338276.
AK056968 - Homo sapiens cDNA FLJ32406 fis, clone SKMUS2000416, highly similar to Troponin T, fast skeletal muscle.
BC171727 - Homo sapiens troponin T type 3 (skeletal, fast), mRNA (cDNA clone MGC:177063 IMAGE:9052046), complete cds.
BC117327 - Homo sapiens troponin T type 3 (skeletal, fast), mRNA (cDNA clone MGC:150936 IMAGE:40125878), complete cds.
BC143537 - Homo sapiens troponin T type 3 (skeletal, fast), mRNA (cDNA clone MGC:177064 IMAGE:9052047), complete cds.
BC171728 - Homo sapiens cDNA clone IMAGE:9052048.
M21984 - Human (clone PWHTnT16) skeletal muscle Troponin T mRNA, complete cds.
U14641 - Human fetal troponin T 1 mRNA, partial cds.
U14642 - Human fetal troponin T 3 mRNA, partial cds.
U14643 - Human troponin T1f mRNA, partial cds.
U14644 - Human troponin T 3f mRNA, partial cds.
HQ258127 - Synthetic construct Homo sapiens clone IMAGE:100072436 troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 4 (TNNT3) gene, encodes complete protein.
KJ892300 - Synthetic construct Homo sapiens clone ccsbBroadEn_01694 TNNT3 gene, encodes complete protein.
JN864077 - Homo sapiens clone SP3 troponin T fast skeletal muscle (TNNT3) mRNA, partial cds, alternatively spliced.
JN864078 - Homo sapiens clone SP1 troponin T fast skeletal muscle (TNNT3) mRNA, partial cds, alternatively spliced.
JN864079 - Homo sapiens clone SP5 troponin T fast skeletal muscle (TNNT3) mRNA, partial cds, alternatively spliced.
CR541927 - Homo sapiens full open reading frame cDNA clone RZPDo834F1233D for gene TNNT3, troponin T3, skeletal, fast; complete cds, without stopcodon.
BT019997 - Homo sapiens troponin T3, skeletal, fast mRNA, complete cds.
DQ778624 - Homo sapiens troponin T type 3 mRNA, complete cds, alternatively spliced.
JD277033 - Sequence 258057 from Patent EP1572962.
JD232581 - Sequence 213605 from Patent EP1572962.
JD426235 - Sequence 407259 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P45378 (Reactome details) participates in the following event(s):

R-HSA-390595 Calcium Binds Troponin-C
R-HSA-390597 Release Of ADP From Myosin
R-HSA-390593 ATP Hydrolysis By Myosin
R-HSA-390598 Myosin Binds ATP
R-HSA-390522 Striated Muscle Contraction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: A8MQ76, A8MSW1, B3KPX3, B7WP64, B7ZL26, B7ZVV9, ENST00000278317.1, ENST00000278317.10, ENST00000278317.2, ENST00000278317.3, ENST00000278317.4, ENST00000278317.5, ENST00000278317.6, ENST00000278317.7, ENST00000278317.8, ENST00000278317.9, NM_006757, P45378, Q12975, Q12976, Q12977, Q12978, Q17RG9, Q6FH29, Q6N056, Q86TH6, TNNT3_HUMAN, uc317joj.1, uc317joj.2
UCSC ID: ENST00000278317.11_7
RefSeq Accession: NM_006757.4
Protein: P45378 (aka TNNT3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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