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TNNT2 (troponin T2, cardiac type)

Identity

Alias (NCBI)CMD1D
CMH2
CMPD2
LVNC6
RCM3
TnTC
cTnT
HGNC (Hugo) TNNT2
HGNC Alias symbCMPD2
HGNC Previous nameCMH2
 CMD1D
HGNC Previous namecardiomyopathy, hypertrophic 2
 cardiomyopathy, dilated 1D (autosomal dominant)
 troponin T type 2 (cardiac)
LocusID (NCBI) 7139
Atlas_Id 50664
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 201359014 and ends at 201377680 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    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]  chr1:201359014-201377680 [Contig_View]  TNNT2 [Vega]
ICGC DataPortalENSG00000118194
TCGA cBioPortalTNNT2
AceView (NCBI)TNNT2
Genatlas (Paris)TNNT2
SOURCE (Princeton)TNNT2
Genetics Home Reference (NIH)TNNT2
Genomic and cartography
GoldenPath hg38 (UCSC)TNNT2  -     chr1:201359014-201377680 -  1q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TNNT2  -     1q32.1   [Description]    (hg19-Feb_2009)
GoldenPathTNNT2 - 1q32.1 [CytoView hg19]  TNNT2 - 1q32.1 [CytoView hg38]
ImmunoBaseENSG00000118194
Genome Data Viewer NCBITNNT2 [Mapview hg19]  
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
Consensus coding sequences : CCDS (NCBI)TNNT2
Gene ExpressionTNNT2 [ NCBI-GEO ]   TNNT2 [ EBI - ARRAY_EXPRESS ]   TNNT2 [ SEEK ]   TNNT2 [ MEM ]
Gene Expression Viewer (FireBrowse)TNNT2 [ Firebrowse - Broad ]
GenevisibleExpression of TNNT2 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
PhosPhoSitePlusP45379
Domains : Interpro (EBI)TNNT    Troponin    Troponin_sf   
Domain families : Pfam (Sanger)Troponin (PF00992)   
Domain families : Pfam (NCBI)pfam00992   
Conserved Domain (NCBI)TNNT2
PDB (RSDB)1J1D    1J1E    4Y99    6KN7    6KN8   
PDB Europe1J1D    1J1E    4Y99    6KN7    6KN8   
PDB (PDBSum)1J1D    1J1E    4Y99    6KN7    6KN8   
PDB (IMB)1J1D    1J1E    4Y99    6KN7    6KN8   
Structural Biology KnowledgeBase1J1D    1J1E    4Y99    6KN7    6KN8   
SCOP (Structural Classification of Proteins)1J1D    1J1E    4Y99    6KN7    6KN8   
CATH (Classification of proteins structures)1J1D    1J1E    4Y99    6KN7    6KN8   
SuperfamilyP45379
AlphaFold pdb e-kbP45379   
Human Protein Atlas [tissue]ENSG00000118194-TNNT2 [tissue]
HPRD01844
Protein Interaction databases
DIP (DOE-UCLA)P45379
IntAct (EBI)P45379
BioGRIDTNNT2
STRING (EMBL)TNNT2
ZODIACTNNT2
Ontologies - Pathways
QuickGOP45379
Ontology : AmiGOactin 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-macromolecule adaptor activity  troponin I binding  troponin I binding  negative regulation of ATPase activity  positive regulation of ATPase activity  regulation of muscle filament sliding speed  protein-containing complex binding  sarcomere organization  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-EBIactin 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-macromolecule adaptor activity  troponin I binding  troponin I binding  negative regulation of ATPase activity  positive regulation of ATPase activity  regulation of muscle filament sliding speed  protein-containing complex binding  sarcomere organization  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
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
MonarchTNNT2
1000_GenomesTNNT2 
Exome Variant ServerTNNT2
GNOMAD BrowserENSG00000118194
Varsome BrowserTNNT2
ACMGTNNT2 variants
VarityP45379
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]  
Somatic Mutations in Cancer : COSMIC3DTNNT2
Mutations and Diseases : HGMDTNNT2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTNNT2
DgiDB (Drug Gene Interaction Database)TNNT2
DoCM (Curated mutations)TNNT2
CIViC (Clinical Interpretations of Variants in Cancer)TNNT2
Cancer3DTNNT2
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]
GENETestsTNNT2
Target ValidationTNNT2
Huge Navigator TNNT2 [HugePedia]
ClinGenTNNT2 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeTNNT2
Protein Interactions : CTDTNNT2
Pharm GKB GenePA36638
PharosP45379
Clinical trialTNNT2
Miscellaneous
canSAR (ICR)TNNT2
HarmonizomeTNNT2
DataMed IndexTNNT2
Probes
Litterature
PubMed422 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTNNT2
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 : Mon Oct 4 15:35:49 CEST 2021

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