Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TNNI3 (troponin I type 3 (cardiac))

Identity

Other namesCMD1FF
CMD2A
CMH7
RCM1
TNNC1
cTnI
HGNC (Hugo) TNNI3
LocusID (NCBI) 7137
Location 19q13.42
Location_base_pair Starts at 55663136 and ends at 55669100 bp from pter ( according to hg19-Feb_2009)
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 I type 3 (cardiac)
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
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)AC_000151 NC_000019 NC_018930 NG_007866 NT_011109 NW_001838498 NW_004929415
Consensus coding sequences : CCDS (NCBI)TNNI3
Cluster EST : UnigeneHs.709179 [ NCBI ]
CGAP (NCI)Hs.709179
Alternative Splicing : Fast-db (Paris)GSHG0016123
Alternative Splicing GalleryENSG00000129991
Gene ExpressionTNNI3 [ NCBI-GEO ]     TNNI3 [ SEEK ]   TNNI3 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19429 (Uniprot)
NextProtP19429  [Medical]
With graphics : InterProP19429
Splice isoforms : SwissVarP19429 (Swissvar)
Domains : Interpro (EBI)Troponin    Troponin-I_N   
Related proteins : CluSTrP19429
Domain families : Pfam (Sanger)Troponin (PF00992)    Troponin-I_N (PF11636)   
Domain families : Pfam (NCBI)pfam00992    pfam11636   
DMDM Disease mutations7137
Blocks (Seattle)P19429
PDB (SRS)1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R   
PDB (PDBSum)1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R   
PDB (IMB)1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R   
PDB (RSDB)1J1D    1J1E    1LXF    1MXL    1OZS    2KGB    2KRD    2L1R   
Human Protein AtlasENSG00000129991
Peptide AtlasP19429
HPRD11769
IPIIPI00244346   
Protein Interaction databases
DIP (DOE-UCLA)P19429
IntAct (EBI)P19429
FunCoupENSG00000129991
BioGRIDTNNI3
IntegromeDBTNNI3
STRING (EMBL)TNNI3
Ontologies - Pathways
QuickGOP19429
Ontology : AmiGOvasculogenesis  regulation of systemic arterial blood pressure by ischemic conditions  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  
Ontology : EGO-EBIvasculogenesis  regulation of systemic arterial blood pressure by ischemic conditions  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  
Pathways : KEGGCardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Hypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
Protein Interaction DatabaseTNNI3
DoCM (Curated mutations)TNNI3
Wikipedia pathwaysTNNI3
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerTNNI3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TNNI3
dbVarTNNI3
ClinVarTNNI3
1000_GenomesTNNI3 
Exome Variant ServerTNNI3
SNP (GeneSNP Utah)TNNI3
SNP : HGBaseTNNI3
Genetic variants : HAPMAPTNNI3
Genomic VariantsTNNI3  TNNI3 [DGVbeta]
Mutations
ICGC Data PortalENSG00000129991 
Somatic Mutations in Cancer : COSMICTNNI3 
CONAN: Copy Number AnalysisTNNI3 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)19:55663136-55669100
Mutations and Diseases : HGMDTNNI3
OMIM115210    191044    611880    613286    613690   
MedgenTNNI3
NextProtP19429 [Medical]
GENETestsTNNI3
Disease Genetic AssociationTNNI3
Huge Navigator TNNI3 [HugePedia]  TNNI3 [HugeCancerGEM]
snp3D : Map Gene to Disease7137
DGIdb (Drug Gene Interaction db)TNNI3
General knowledge
Homologs : HomoloGeneTNNI3
Homology/Alignments : Family Browser (UCSC)TNNI3
Phylogenetic Trees/Animal Genes : TreeFamTNNI3
Chemical/Protein Interactions : CTD7137
Chemical/Pharm GKB GenePA36636
Clinical trialTNNI3
Cancer Resource (Charite)ENSG00000129991
Other databases
Probes
Litterature
PubMed224 Pubmed reference(s) in Entrez
CoreMineTNNI3
GoPubMedTNNI3
iHOPTNNI3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 02:01:27 CET 2014

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