Human Gene TNNI3 (ENST00000344887.10_9) from GENCODE V47lift37
  Description: troponin I3, cardiac type (from RefSeq NM_000363.5)
Gencode Transcript: ENST00000344887.10_9
Gencode Gene: ENSG00000129991.14_16
Transcript (Including UTRs)
   Position: hg19 chr19:55,663,135-55,669,100 Size: 5,966 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr19:55,663,202-55,668,957 Size: 5,756 Coding Exon Count: 8 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:55,663,135-55,669,100)mRNA (may differ from genome)Protein (210 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  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: TNNI3
Diseases sorted by gene-association score: cardiomyopathy, dilated, 2a* (1289), cardiomyopathy, familial restrictive, 1* (1230), cardiomyopathy, dilated, 1ff* (1229), cardiomyopathy, hypertrophic, 7* (1225), tnni3-related familial restrictive cardiomyopathy* (500), restrictive cardiomyopathy* (445), familial isolated restrictive cardiomyopathy* (247), cardiomyopathy, familial hypertrophic* (196), dilated cardiomyopathy* (156), tnni3-related dilated cardiomyopathy* (100), tnni3-related familial hypertrophic cardiomyopathy* (100), familial isolated dilated cardiomyopathy* (80), cardiomyopathy (25), myocardial stunning (16), rheumatic myocarditis (16), epicardium cancer (15), tick paralysis (15), extrinsic cardiomyopathy (12), heart disease (11), acute myocardial infarction (11), toxic myocarditis (11), intermediate coronary syndrome (10), infective endocarditis (10), hypoplastic left heart syndrome (8), gas gangrene (8), coronary stenosis (8), pulmonary embolism (8), pericardium disease (7), endocarditis (7), fabry disease (6), intrinsic cardiomyopathy (6), myocarditis (6), corneal dystrophy, subepithelial mucinous (5), limb ischemia (5), coronary artery vasospasm (5), acute myocarditis (5), pericardium cancer (5), dirofilariasis (4), aortic valve disease 1 (4), duchenne muscular dystrophy (3), myocardial infarction (3), artery disease (2), heart septal defect (1), aortic valve disease 2 (1)
* = 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: 2972.11 RPKM in Heart - Left Ventricle
Total median expression: 4284.17 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 -46.60143-0.326 Picture PostScript Text
3' UTR -16.6067-0.248 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
IPR021666 - Troponin-I_N

Pfam Domains:
PF00992 - Troponin
PF11636 - Troponin I residues 1-32

SCOP Domains:
90250 - Troponin coil-coiled subunits

ModBase Predicted Comparative 3D Structure on Q6FGX2
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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0001570 vasculogenesis
GO:0001980 regulation of systemic arterial blood pressure by ischemic conditions
GO:0006874 cellular calcium ion homeostasis
GO:0006937 regulation of muscle contraction
GO:0006940 regulation of smooth muscle contraction
GO:0006941 striated muscle contraction
GO:0007507 heart development
GO:0060048 cardiac muscle contraction

Cellular Component:
GO:0005737 cytoplasm
GO:0005861 troponin complex
GO:0030016 myofibril
GO:0030017 sarcomere
GO:0043292 contractile fiber


-  Descriptions from all associated GenBank mRNAs
  AK223451 - Homo sapiens mRNA for troponin I, cardiac variant, clone: FCC114E05.
EU747720 - Homo sapiens mutant cardiac troponin I (TNNI3) mRNA, complete cds.
M64247 - Human cardiac troponin I mRNA, complete cds.
X54163 - Human mRNA for cardiac troponin I.
BC096165 - Homo sapiens troponin I type 3 (cardiac), mRNA (cDNA clone MGC:116814 IMAGE:40003354), complete cds.
BC096166 - Homo sapiens troponin I type 3 (cardiac), mRNA (cDNA clone MGC:116815 IMAGE:40003355), complete cds.
BC096167 - Homo sapiens troponin I type 3 (cardiac), mRNA (cDNA clone MGC:116816 IMAGE:40003357), complete cds.
BC099631 - Homo sapiens troponin I type 3 (cardiac), mRNA (cDNA clone MGC:116817 IMAGE:40003359), complete cds.
CR541985 - Homo sapiens full open reading frame cDNA clone RZPDo834H1137D for gene TNNI3, troponin I, cardiac; complete cds, incl. stopcodon.
BT019517 - Homo sapiens troponin I, cardiac mRNA, complete cds.
CR542012 - Homo sapiens full open reading frame cDNA clone RZPDo834H0335D for gene TNNI3, troponin I, cardiac; complete cds, without stopcodon.
KR711761 - Synthetic construct Homo sapiens clone CCSBHm_00030770 TNNI3 (TNNI3) mRNA, encodes complete protein.
KJ892297 - Synthetic construct Homo sapiens clone ccsbBroadEn_01691 TNNI3 gene, encodes complete protein.
KR711762 - Synthetic construct Homo sapiens clone CCSBHm_00030772 TNNI3 (TNNI3) mRNA, encodes complete protein.
KR711763 - Synthetic construct Homo sapiens clone CCSBHm_00030779 TNNI3 (TNNI3) mRNA, encodes complete protein.
KR711764 - Synthetic construct Homo sapiens clone CCSBHm_00030798 TNNI3 (TNNI3) mRNA, encodes complete protein.
EU106579 - Homo sapiens troponin I type 3 cardiac (TNNI3) gene, exon 5 and partial cds.
EU106578 - Homo sapiens troponin I type 3 cardiac (TNNI3) gene, exon 3 and partial cds.
JD254175 - Sequence 235199 from Patent EP1572962.
JD405818 - Sequence 386842 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000344887.1, ENST00000344887.2, ENST00000344887.3, ENST00000344887.4, ENST00000344887.5, ENST00000344887.6, ENST00000344887.7, ENST00000344887.8, ENST00000344887.9, NM_000363, Q6FGX2, Q6FGX2_HUMAN, TNNI3 , uc317xck.1, uc317xck.2
UCSC ID: ENST00000344887.10_9
RefSeq Accession: NM_000363.5
Protein: Q6FGX2

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TNNI3:
dcm-ov (Dilated Cardiomyopathy Overview)
hyper-card (Hypertrophic Cardiomyopathy Overview)

-  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.