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TNNI3 (troponin I3, cardiac type)

Identity

Other namesCMD1FF
CMD2A
CMH7
RCM1
TNNC1
cTnI
HGNC (Hugo) TNNI3
LocusID (NCBI) 7137
Atlas_Id 50254
Location 19q13.42  [Link to chromosome band 19q13]
Location_base_pair Starts at 55663136 and ends at 55669100 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
TNNI3 (19q13.42) / USF2 (19q13.12)TNNI3 (19q13.42) / ZNF607 (19q13.12)TNNI3 19q13.42 / ZNF607 19q13.12

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)TNNI3   11947
Cards
Entrez_Gene (NCBI)TNNI3  7137  troponin I3, cardiac type
AliasesCMD1FF; CMD2A; CMH7; RCM1; 
TNNC1; cTnI
GeneCards (Weizmann)TNNI3
Ensembl hg19 (Hinxton)ENSG00000129991 [Gene_View]  chr19:55663136-55669100 [Contig_View]  TNNI3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000129991 [Gene_View]  chr19:55663136-55669100 [Contig_View]  TNNI3 [Vega]
ICGC DataPortalENSG00000129991
TCGA cBioPortalTNNI3
AceView (NCBI)TNNI3
Genatlas (Paris)TNNI3
WikiGenes7137
SOURCE (Princeton)TNNI3
Genomic and cartography
GoldenPath hg19 (UCSC)TNNI3  -     chr19:55663136-55669100 -  19q13.42   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TNNI3  -     19q13.42   [Description]    (hg38-Dec_2013)
EnsemblTNNI3 - 19q13.42 [CytoView hg19]  TNNI3 - 19q13.42 [CytoView hg38]
Mapping of homologs : NCBITNNI3 [Mapview hg19]  TNNI3 [Mapview hg38]
OMIM115210   191044   611880   613286   613690   
Gene and transcription
Genbank (Entrez)AK223451 BC096165 BC096166 BC096167 BC099631
RefSeq transcript (Entrez)NM_000363
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_007866 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)TNNI3
Cluster EST : UnigeneHs.709179 [ NCBI ]
CGAP (NCI)Hs.709179
Alternative Splicing GalleryENSG00000129991
Gene ExpressionTNNI3 [ NCBI-GEO ]   TNNI3 [ EBI - ARRAY_EXPRESS ]   TNNI3 [ SEEK ]   TNNI3 [ MEM ]
Gene Expression Viewer (FireBrowse)TNNI3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7137
GTEX Portal (Tissue expression)TNNI3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19429 (Uniprot)
NextProtP19429  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP19429
Splice isoforms : SwissVarP19429 (Swissvar)
PhosPhoSitePlusP19429
Domains : Interpro (EBI)Troponin    Troponin-I_N   
Domain families : Pfam (Sanger)Troponin (PF00992)    Troponin-I_N (PF11636)   
Domain families : Pfam (NCBI)pfam00992    pfam11636   
DMDM Disease mutations7137
Blocks (Seattle)TNNI3
PDB (SRS)1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R    2MZP   
PDB (PDBSum)1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R    2MZP   
PDB (IMB)1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R    2MZP   
PDB (RSDB)1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R    2MZP   
Structural Biology KnowledgeBase1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R    2MZP   
SCOP (Structural Classification of Proteins)1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R    2MZP   
CATH (Classification of proteins structures)1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R    2MZP   
SuperfamilyP19429
Human Protein AtlasENSG00000129991
Peptide AtlasP19429
HPRD11769
IPIIPI00244346   
Protein Interaction databases
DIP (DOE-UCLA)P19429
IntAct (EBI)P19429
FunCoupENSG00000129991
BioGRIDTNNI3
STRING (EMBL)TNNI3
ZODIACTNNI3
Ontologies - Pathways
QuickGOP19429
Ontology : AmiGOvasculogenesis  regulation of systemic arterial blood pressure by ischemic conditions  skeletal muscle contraction  actin binding  protein binding  cytosol  troponin complex  cellular calcium ion homeostasis  regulation of smooth muscle contraction  heart development  calcium channel inhibitor activity  protein kinase binding  protein domain specific binding  sarcomere  muscle filament sliding  troponin C binding  troponin T binding  negative regulation of ATPase activity  negative regulation of ATPase activity  metal ion binding  calcium-dependent protein binding  ventricular cardiac muscle tissue morphogenesis  heart contraction  cardiac muscle contraction  regulation of cardiac conduction  
Ontology : EGO-EBIvasculogenesis  regulation of systemic arterial blood pressure by ischemic conditions  skeletal muscle contraction  actin binding  protein binding  cytosol  troponin complex  cellular calcium ion homeostasis  regulation of smooth muscle contraction  heart development  calcium channel inhibitor activity  protein kinase binding  protein domain specific binding  sarcomere  muscle filament sliding  troponin C binding  troponin T binding  negative regulation of ATPase activity  negative regulation of ATPase activity  metal ion binding  calcium-dependent protein binding  ventricular cardiac muscle tissue morphogenesis  heart contraction  cardiac muscle contraction  regulation of cardiac conduction  
Pathways : KEGGCardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Hypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
NDEx NetworkTNNI3
Atlas of Cancer Signalling NetworkTNNI3
Wikipedia pathwaysTNNI3
Orthology - Evolution
OrthoDB7137
GeneTree (enSembl)ENSG00000129991
Phylogenetic Trees/Animal Genes : TreeFamTNNI3
Homologs : HomoloGeneTNNI3
Homology/Alignments : Family Browser (UCSC)TNNI3
Gene fusions - Rearrangements
Fusion: TCGATNNI3 19q13.42 ZNF607 19q13.12 BLCA
Polymorphisms : SNP, variants
NCBI Variation ViewerTNNI3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TNNI3
dbVarTNNI3
ClinVarTNNI3
1000_GenomesTNNI3 
Exome Variant ServerTNNI3
ExAC (Exome Aggregation Consortium)TNNI3 (select the gene name)
Genetic variants : HAPMAP7137
Genomic Variants (DGV)TNNI3 [DGVbeta]
Mutations
ICGC Data PortalTNNI3 
TCGA Data PortalTNNI3 
Broad Tumor PortalTNNI3
OASIS PortalTNNI3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTNNI3 
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 TNNI3
DgiDB (Drug Gene Interaction Database)TNNI3
DoCM (Curated mutations)TNNI3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TNNI3 (select a term)
intoGenTNNI3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)19:55663136-55669100  ENSG00000129991
CONAN: Copy Number AnalysisTNNI3 
Mutations and Diseases : HGMDTNNI3
OMIM115210    191044    611880    613286    613690   
MedgenTNNI3
Genetic Testing Registry TNNI3
NextProtP19429 [Medical]
TSGene7137
GENETestsTNNI3
Huge Navigator TNNI3 [HugePedia]
snp3D : Map Gene to Disease7137
BioCentury BCIQTNNI3
ClinGenTNNI3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7137
Chemical/Pharm GKB GenePA36636
Clinical trialTNNI3
Miscellaneous
canSAR (ICR)TNNI3 (select the gene name)
Probes
Litterature
PubMed276 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTNNI3
EVEXTNNI3
GoPubMedTNNI3
iHOPTNNI3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 19:17:20 CEST 2016

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