Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TNNT2 (troponin T2, cardiac type)

Identity

Alias_namesCMH2
CMD1D
cardiomyopathy, hypertrophic 2
cardiomyopathy, dilated 1D (autosomal dominant)
troponin T type 2 (cardiac)
Alias_symbol (synonym)CMPD2
Other aliasLVNC6
RCM3
TnTC
cTnT
HGNC (Hugo) TNNT2
LocusID (NCBI) 7139
Atlas_Id 50664
Location 1p31.1  [Link to chromosome band 1p31]
Location_base_pair Starts at 201359008 and ends at 201377700 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
TNNT2 (1q32.1) / CPSF7 (11q12.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)TNNT2   11949
LRG (Locus Reference Genomic)LRG_431
Cards
Entrez_Gene (NCBI)TNNT2  7139  troponin T2, cardiac type
AliasesCMD1D; CMH2; CMPD2; LVNC6; 
RCM3; TnTC; cTnT
GeneCards (Weizmann)TNNT2
Ensembl hg19 (Hinxton)ENSG00000118194 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000118194 [Gene_View]  ENSG00000118194 [Sequence]  chr1:201359008-201377700 [Contig_View]  TNNT2 [Vega]
ICGC DataPortalENSG00000118194
TCGA cBioPortalTNNT2
AceView (NCBI)TNNT2
Genatlas (Paris)TNNT2
WikiGenes7139
SOURCE (Princeton)TNNT2
Genetics Home Reference (NIH)TNNT2
Genomic and cartography
GoldenPath hg38 (UCSC)TNNT2  -     chr1:201359008-201377700 -  1p31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TNNT2  -     1p31.1   [Description]    (hg19-Feb_2009)
EnsemblTNNT2 - 1p31.1 [CytoView hg19]  TNNT2 - 1p31.1 [CytoView hg38]
Mapping of homologs : NCBITNNT2 [Mapview hg19]  TNNT2 [Mapview hg38]
OMIM115195   191045   601494   612422   
Gene and transcription
Genbank (Entrez)AA865519 AJ709280 AK055533 AK125236 AK290621
RefSeq transcript (Entrez)NM_000364 NM_001001430 NM_001001431 NM_001001432 NM_001276345 NM_001276346 NM_001276347
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TNNT2
Cluster EST : UnigeneHs.533613 [ NCBI ]
CGAP (NCI)Hs.533613
Alternative Splicing GalleryENSG00000118194
Gene ExpressionTNNT2 [ NCBI-GEO ]   TNNT2 [ EBI - ARRAY_EXPRESS ]   TNNT2 [ SEEK ]   TNNT2 [ MEM ]
Gene Expression Viewer (FireBrowse)TNNT2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7139
GTEX Portal (Tissue expression)TNNT2
Human Protein AtlasENSG00000118194-TNNT2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP45379   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP45379  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP45379
Splice isoforms : SwissVarP45379
PhosPhoSitePlusP45379
Domains : Interpro (EBI)TNNT    Troponin    Troponin_sf   
Domain families : Pfam (Sanger)Troponin (PF00992)   
Domain families : Pfam (NCBI)pfam00992   
Conserved Domain (NCBI)TNNT2
DMDM Disease mutations7139
Blocks (Seattle)TNNT2
PDB (SRS)1J1D    1J1E    4Y99   
PDB (PDBSum)1J1D    1J1E    4Y99   
PDB (IMB)1J1D    1J1E    4Y99   
PDB (RSDB)1J1D    1J1E    4Y99   
Structural Biology KnowledgeBase1J1D    1J1E    4Y99   
SCOP (Structural Classification of Proteins)1J1D    1J1E    4Y99   
CATH (Classification of proteins structures)1J1D    1J1E    4Y99   
SuperfamilyP45379
Human Protein Atlas [tissue]ENSG00000118194-TNNT2 [tissue]
Peptide AtlasP45379
HPRD01844
IPIIPI00021292   IPI00478301   IPI00218306   IPI00218307   IPI00218308   IPI00218309   IPI00471956   IPI00654551   IPI00747844   IPI00218313   IPI01025127   IPI01011661   IPI01011154   IPI01015597   IPI00145107   IPI00641922   IPI01011621   
Protein Interaction databases
DIP (DOE-UCLA)P45379
IntAct (EBI)P45379
FunCoupENSG00000118194
BioGRIDTNNT2
STRING (EMBL)TNNT2
ZODIACTNNT2
Ontologies - Pathways
QuickGOP45379
Ontology : AmiGOskeletal muscle contraction  actin binding  calcium ion binding  protein binding  protein binding  tropomyosin binding  tropomyosin binding  cytosol  troponin complex  troponin complex  striated muscle thin filament  muscle contraction  regulation of heart contraction  sarcomere  muscle filament sliding  muscle filament sliding  troponin C binding  troponin C binding  protein binding, bridging  calcium-dependent ATPase activity  troponin I binding  troponin I binding  negative regulation of ATPase activity  positive regulation of ATPase activity  regulation of muscle filament sliding speed  sarcomere organization  protein heterooligomerization  response to calcium ion  actin crosslink formation  ventricular cardiac muscle tissue morphogenesis  cardiac muscle contraction  cardiac muscle contraction  cardiac myofibril  cardiac Troponin complex  
Ontology : EGO-EBIskeletal muscle contraction  actin binding  calcium ion binding  protein binding  protein binding  tropomyosin binding  tropomyosin binding  cytosol  troponin complex  troponin complex  striated muscle thin filament  muscle contraction  regulation of heart contraction  sarcomere  muscle filament sliding  muscle filament sliding  troponin C binding  troponin C binding  protein binding, bridging  calcium-dependent ATPase activity  troponin I binding  troponin I binding  negative regulation of ATPase activity  positive regulation of ATPase activity  regulation of muscle filament sliding speed  sarcomere organization  protein heterooligomerization  response to calcium ion  actin crosslink formation  ventricular cardiac muscle tissue morphogenesis  cardiac muscle contraction  cardiac muscle contraction  cardiac myofibril  cardiac Troponin complex  
Pathways : KEGGCardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Hypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
NDEx NetworkTNNT2
Atlas of Cancer Signalling NetworkTNNT2
Wikipedia pathwaysTNNT2
Orthology - Evolution
OrthoDB7139
GeneTree (enSembl)ENSG00000118194
Phylogenetic Trees/Animal Genes : TreeFamTNNT2
HOVERGENP45379
HOGENOMP45379
Homologs : HomoloGeneTNNT2
Homology/Alignments : Family Browser (UCSC)TNNT2
Gene fusions - Rearrangements
Fusion : QuiverTNNT2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTNNT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TNNT2
dbVarTNNT2
ClinVarTNNT2
1000_GenomesTNNT2 
Exome Variant ServerTNNT2
ExAC (Exome Aggregation Consortium)ENSG00000118194
GNOMAD BrowserENSG00000118194
Varsome BrowserTNNT2
Genetic variants : HAPMAP7139
Genomic Variants (DGV)TNNT2 [DGVbeta]
DECIPHERTNNT2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTNNT2 
Mutations
ICGC Data PortalTNNT2 
TCGA Data PortalTNNT2 
Broad Tumor PortalTNNT2
OASIS PortalTNNT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTNNT2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTNNT2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch TNNT2
DgiDB (Drug Gene Interaction Database)TNNT2
DoCM (Curated mutations)TNNT2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TNNT2 (select a term)
intoGenTNNT2
Cancer3DTNNT2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM115195    191045    601494    612422   
Orphanet635    11069    10750   
DisGeNETTNNT2
MedgenTNNT2
Genetic Testing Registry TNNT2
NextProtP45379 [Medical]
TSGene7139
GENETestsTNNT2
Target ValidationTNNT2
Huge Navigator TNNT2 [HugePedia]
snp3D : Map Gene to Disease7139
BioCentury BCIQTNNT2
ClinGenTNNT2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7139
Chemical/Pharm GKB GenePA36638
Clinical trialTNNT2
Miscellaneous
canSAR (ICR)TNNT2 (select the gene name)
Probes
Litterature
PubMed373 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTNNT2
EVEXTNNT2
GoPubMedTNNT2
iHOPTNNT2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Aug 16 11:38:09 CEST 2018
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