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TNNI3 (troponin I3, cardiac type)

Identity

Alias (NCBI)CMD1FF
CMD2A
CMH7
RCM1
TNNC1
cTnI
HGNC (Hugo) TNNI3
HGNC Alias symbTNNC1
CMH7
HGNC Previous nameCMD2A
HGNC Previous namecardiomyopathy, dilated 2A (autosomal recessive)
 troponin I type 3 (cardiac)
 troponin I type 3
LocusID (NCBI) 7137
Atlas_Id 50254
Location 19q13.42  [Link to chromosome band 19q13]
Location_base_pair Starts at 55151768 and ends at 55157732 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)
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

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  TNNI3/ZNF607 (19q13)


External links

Nomenclature
HGNC (Hugo)TNNI3   11947
LRG (Locus Reference Genomic)LRG_432
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]
Ensembl hg38 (Hinxton)ENSG00000129991 [Gene_View]  ENSG00000129991 [Sequence]  chr19:55151768-55157732 [Contig_View]  TNNI3 [Vega]
ICGC DataPortalENSG00000129991
TCGA cBioPortalTNNI3
AceView (NCBI)TNNI3
Genatlas (Paris)TNNI3
WikiGenes7137
SOURCE (Princeton)TNNI3
Genetics Home Reference (NIH)TNNI3
Genomic and cartography
GoldenPath hg38 (UCSC)TNNI3  -     chr19:55151768-55157732 -  19q13.42   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TNNI3  -     19q13.42   [Description]    (hg19-Feb_2009)
GoldenPathTNNI3 - 19q13.42 [CytoView hg19]  TNNI3 - 19q13.42 [CytoView hg38]
ImmunoBaseENSG00000129991
genome Data Viewer NCBITNNI3 [Mapview hg19]  
OMIM115210   191044   611880   613286   613690   
Gene and transcription
Genbank (Entrez)AK223451 BC096165 BC096166 BC096167 BC099631
RefSeq transcript (Entrez)NM_000363
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TNNI3
Alternative Splicing GalleryENSG00000129991
Gene ExpressionTNNI3 [ NCBI-GEO ]   TNNI3 [ EBI - ARRAY_EXPRESS ]   TNNI3 [ SEEK ]   TNNI3 [ MEM ]
Gene Expression Viewer (FireBrowse)TNNI3 [ Firebrowse - Broad ]
GenevisibleExpression of TNNI3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7137
GTEX Portal (Tissue expression)TNNI3
Human Protein AtlasENSG00000129991-TNNI3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19429   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP19429  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP19429
Splice isoforms : SwissVarP19429
PhosPhoSitePlusP19429
Domains : Interpro (EBI)Troponin    Troponin-I_N    Troponin_sf   
Domain families : Pfam (Sanger)Troponin (PF00992)    Troponin-I_N (PF11636)   
Domain families : Pfam (NCBI)pfam00992    pfam11636   
Conserved Domain (NCBI)TNNI3
DMDM Disease mutations7137
Blocks (Seattle)TNNI3
PDB (RSDB)1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R    2MZP    2N7L    4Y99    5VLN    5W88    5WCL    6KN7    6KN8    6MV3   
PDB Europe1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R    2MZP    2N7L    4Y99    5VLN    5W88    5WCL    6KN7    6KN8    6MV3   
PDB (PDBSum)1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R    2MZP    2N7L    4Y99    5VLN    5W88    5WCL    6KN7    6KN8    6MV3   
PDB (IMB)1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R    2MZP    2N7L    4Y99    5VLN    5W88    5WCL    6KN7    6KN8    6MV3   
Structural Biology KnowledgeBase1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R    2MZP    2N7L    4Y99    5VLN    5W88    5WCL    6KN7    6KN8    6MV3   
SCOP (Structural Classification of Proteins)1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R    2MZP    2N7L    4Y99    5VLN    5W88    5WCL    6KN7    6KN8    6MV3   
CATH (Classification of proteins structures)1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R    2MZP    2N7L    4Y99    5VLN    5W88    5WCL    6KN7    6KN8    6MV3   
SuperfamilyP19429
Human Protein Atlas [tissue]ENSG00000129991-TNNI3 [tissue]
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  troponin complex  cellular calcium ion homeostasis  muscle contraction  regulation of smooth muscle contraction  heart development  regulation of cardiac muscle contraction by calcium ion signaling  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  actin filament binding  ventricular cardiac muscle tissue morphogenesis  heart contraction  cardiac muscle contraction  cardiac muscle contraction  cardiac myofibril  cardiac Troponin complex  
Ontology : EGO-EBIvasculogenesis  regulation of systemic arterial blood pressure by ischemic conditions  skeletal muscle contraction  actin binding  protein binding  cytosol  troponin complex  troponin complex  cellular calcium ion homeostasis  muscle contraction  regulation of smooth muscle contraction  heart development  regulation of cardiac muscle contraction by calcium ion signaling  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  actin filament binding  ventricular cardiac muscle tissue morphogenesis  heart contraction  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 NetworkTNNI3
Atlas of Cancer Signalling NetworkTNNI3
Wikipedia pathwaysTNNI3
Orthology - Evolution
OrthoDB7137
GeneTree (enSembl)ENSG00000129991
Phylogenetic Trees/Animal Genes : TreeFamTNNI3
HOGENOMP19429
Homologs : HomoloGeneTNNI3
Homology/Alignments : Family Browser (UCSC)TNNI3
Gene fusions - Rearrangements
Fusion : MitelmanTNNI3/ZNF607 [19q13.42/19q13.12]  
Fusion PortalTNNI3 19q13.42 ZNF607 19q13.12 BLCA
Fusion : QuiverTNNI3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTNNI3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TNNI3
dbVarTNNI3
ClinVarTNNI3
MonarchTNNI3
1000_GenomesTNNI3 
Exome Variant ServerTNNI3
GNOMAD BrowserENSG00000129991
Varsome BrowserTNNI3
Genetic variants : HAPMAP7137
Genomic Variants (DGV)TNNI3 [DGVbeta]
DECIPHERTNNI3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTNNI3 
Mutations
ICGC Data PortalTNNI3 
TCGA Data PortalTNNI3 
Broad Tumor PortalTNNI3
OASIS PortalTNNI3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTNNI3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTNNI3
Mutations and Diseases : HGMDTNNI3
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
Cancer3DTNNI3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM115210    191044    611880    613286    613690   
Orphanet635    11069   
DisGeNETTNNI3
MedgenTNNI3
Genetic Testing Registry TNNI3
NextProtP19429 [Medical]
TSGene7137
GENETestsTNNI3
Target ValidationTNNI3
Huge Navigator TNNI3 [HugePedia]
snp3D : Map Gene to Disease7137
BioCentury BCIQTNNI3
ClinGenTNNI3 (curated)
Clinical trials, drugs, therapy
Protein Interactions : CTD7137
Pharm GKB GenePA36636
Clinical trialTNNI3
Miscellaneous
canSAR (ICR)TNNI3 (select the gene name)
HarmonizomeTNNI3
DataMed IndexTNNI3
Probes
Litterature
PubMed337 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTNNI3
EVEXTNNI3
GoPubMedTNNI3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 14 14:36:44 CEST 2020

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