Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TNNI2 (troponin I2, fast skeletal type)

Identity

Alias_namesAMCD2B
troponin I, skeletal, fast
arthrogryposis multiplex congenita, distal, type 2B
troponin I type 2 (skeletal, fast)
Alias_symbol (synonym)FSSV
DA2B
Other aliasfsTnI
HGNC (Hugo) TNNI2
LocusID (NCBI) 7136
Atlas_Id 47647
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 1839003 and ends at 1841680 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)
SYT8 (11p15.5) / TNNI2 (11p15.5)

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) [ 2 ]
  SYT8/TNNI2 (11p15)
t(11;22)(p15;q12) CCDC117/TNNI2

External links

Nomenclature
HGNC (Hugo)TNNI2   11946
LRG (Locus Reference Genomic)LRG_851
Cards
Entrez_Gene (NCBI)TNNI2  7136  troponin I2, fast skeletal type
AliasesAMCD2B; DA2B; FSSV; fsTnI
GeneCards (Weizmann)TNNI2
Ensembl hg19 (Hinxton)ENSG00000130598 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130598 [Gene_View]  ENSG00000130598 [Sequence]  chr11:1839003-1841680 [Contig_View]  TNNI2 [Vega]
ICGC DataPortalENSG00000130598
TCGA cBioPortalTNNI2
AceView (NCBI)TNNI2
Genatlas (Paris)TNNI2
WikiGenes7136
SOURCE (Princeton)TNNI2
Genetics Home Reference (NIH)TNNI2
Genomic and cartography
GoldenPath hg38 (UCSC)TNNI2  -     chr11:1839003-1841680 +  11p15.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TNNI2  -     11p15.5   [Description]    (hg19-Feb_2009)
EnsemblTNNI2 - 11p15.5 [CytoView hg19]  TNNI2 - 11p15.5 [CytoView hg38]
Mapping of homologs : NCBITNNI2 [Mapview hg19]  TNNI2 [Mapview hg38]
OMIM191043   601680   
Gene and transcription
Genbank (Entrez)AW984315 BC032148 BI833431 BP233165 BQ926240
RefSeq transcript (Entrez)NM_001145829 NM_001145841 NM_003282
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TNNI2
Cluster EST : UnigeneHs.523403 [ NCBI ]
CGAP (NCI)Hs.523403
Alternative Splicing GalleryENSG00000130598
Gene ExpressionTNNI2 [ NCBI-GEO ]   TNNI2 [ EBI - ARRAY_EXPRESS ]   TNNI2 [ SEEK ]   TNNI2 [ MEM ]
Gene Expression Viewer (FireBrowse)TNNI2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7136
GTEX Portal (Tissue expression)TNNI2
Human Protein AtlasENSG00000130598-TNNI2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48788   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48788  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48788
Splice isoforms : SwissVarP48788
PhosPhoSitePlusP48788
Domains : Interpro (EBI)Troponin    Troponin_sf   
Domain families : Pfam (Sanger)Troponin (PF00992)   
Domain families : Pfam (NCBI)pfam00992   
Conserved Domain (NCBI)TNNI2
DMDM Disease mutations7136
Blocks (Seattle)TNNI2
PDB (SRS)2MKP   
PDB (PDBSum)2MKP   
PDB (IMB)2MKP   
PDB (RSDB)2MKP   
Structural Biology KnowledgeBase2MKP   
SCOP (Structural Classification of Proteins)2MKP   
CATH (Classification of proteins structures)2MKP   
SuperfamilyP48788
Human Protein Atlas [tissue]ENSG00000130598-TNNI2 [tissue]
Peptide AtlasP48788
HPRD01843
IPIIPI00216236   IPI00657955   
Protein Interaction databases
DIP (DOE-UCLA)P48788
IntAct (EBI)P48788
FunCoupENSG00000130598
BioGRIDTNNI2
STRING (EMBL)TNNI2
ZODIACTNNI2
Ontologies - Pathways
QuickGOP48788
Ontology : AmiGOskeletal muscle contraction  skeletal muscle contraction  actin binding  protein binding  nucleus  cytosol  troponin complex  troponin complex  muscle contraction  regulation of muscle contraction  muscle filament sliding  troponin T binding  positive regulation of transcription, DNA-templated  cardiac muscle contraction  
Ontology : EGO-EBIskeletal muscle contraction  skeletal muscle contraction  actin binding  protein binding  nucleus  cytosol  troponin complex  troponin complex  muscle contraction  regulation of muscle contraction  muscle filament sliding  troponin T binding  positive regulation of transcription, DNA-templated  cardiac muscle contraction  
NDEx NetworkTNNI2
Atlas of Cancer Signalling NetworkTNNI2
Wikipedia pathwaysTNNI2
Orthology - Evolution
OrthoDB7136
GeneTree (enSembl)ENSG00000130598
Phylogenetic Trees/Animal Genes : TreeFamTNNI2
HOVERGENP48788
HOGENOMP48788
Homologs : HomoloGeneTNNI2
Homology/Alignments : Family Browser (UCSC)TNNI2
Gene fusions - Rearrangements
Fusion : QuiverTNNI2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTNNI2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TNNI2
dbVarTNNI2
ClinVarTNNI2
1000_GenomesTNNI2 
Exome Variant ServerTNNI2
ExAC (Exome Aggregation Consortium)ENSG00000130598
GNOMAD BrowserENSG00000130598
Varsome BrowserTNNI2
Genetic variants : HAPMAP7136
Genomic Variants (DGV)TNNI2 [DGVbeta]
DECIPHERTNNI2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTNNI2 
Mutations
ICGC Data PortalTNNI2 
TCGA Data PortalTNNI2 
Broad Tumor PortalTNNI2
OASIS PortalTNNI2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTNNI2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTNNI2
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
BioMutasearch TNNI2
DgiDB (Drug Gene Interaction Database)TNNI2
DoCM (Curated mutations)TNNI2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TNNI2 (select a term)
intoGenTNNI2
Cancer3DTNNI2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM191043    601680   
Orphanet421    422   
DisGeNETTNNI2
MedgenTNNI2
Genetic Testing Registry TNNI2
NextProtP48788 [Medical]
TSGene7136
GENETestsTNNI2
Target ValidationTNNI2
Huge Navigator TNNI2 [HugePedia]
snp3D : Map Gene to Disease7136
BioCentury BCIQTNNI2
ClinGenTNNI2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7136
Chemical/Pharm GKB GenePA36635
Clinical trialTNNI2
Miscellaneous
canSAR (ICR)TNNI2 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTNNI2
EVEXTNNI2
GoPubMedTNNI2
iHOPTNNI2
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 Aug 27 11:58:24 CEST 2018
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