Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TNNI2 (troponin I2, fast skeletal type)

Identity

Alias (NCBI)AMCD2B
DA2B
DA2B1
FSSV
fsTnI
HGNC (Hugo) TNNI2
HGNC Alias symbFSSV
DA2B
HGNC Alias nametroponin I, fast-twitch skeletal muscle isoform
 troponin I fast twitch 2
HGNC Previous nameAMCD2B
HGNC Previous nametroponin I, skeletal, fast
 arthrogryposis multiplex congenita, distal, type 2B
 troponin I type 2 (skeletal, fast)
LocusID (NCBI) 7136
Atlas_Id 47647
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 1838981 and ends at 1841678 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

 

External links

 

Nomenclature
HGNC (Hugo)TNNI2   11946
LRG (Locus Reference Genomic)LRG_851
Cards
Entrez_Gene (NCBI)TNNI2    troponin I2, fast skeletal type
AliasesAMCD2B; DA2B; DA2B1; FSSV; 
fsTnI
GeneCards (Weizmann)TNNI2
Ensembl hg19 (Hinxton)ENSG00000130598 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130598 [Gene_View]  ENSG00000130598 [Sequence]  chr11:1838981-1841678 [Contig_View]  TNNI2 [Vega]
ICGC DataPortalENSG00000130598
TCGA cBioPortalTNNI2
AceView (NCBI)TNNI2
Genatlas (Paris)TNNI2
SOURCE (Princeton)TNNI2
Genetics Home Reference (NIH)TNNI2
Genomic and cartography
GoldenPath hg38 (UCSC)TNNI2  -     chr11:1838981-1841678 +  11p15.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TNNI2  -     11p15.5   [Description]    (hg19-Feb_2009)
GoldenPathTNNI2 - 11p15.5 [CytoView hg19]  TNNI2 - 11p15.5 [CytoView hg38]
ImmunoBaseENSG00000130598
Genome Data Viewer NCBITNNI2 [Mapview hg19]  
OMIM191043   601680   
Gene and transcription
Genbank (Entrez)AW984315 BC032148 BI833431 BP233165 BQ926240
RefSeq transcript (Entrez)NM_001145829 NM_001145841 NM_003282
Consensus coding sequences : CCDS (NCBI)TNNI2
Gene ExpressionTNNI2 [ NCBI-GEO ]   TNNI2 [ EBI - ARRAY_EXPRESS ]   TNNI2 [ SEEK ]   TNNI2 [ MEM ]
Gene Expression Viewer (FireBrowse)TNNI2 [ Firebrowse - Broad ]
GenevisibleExpression of TNNI2 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
PhosPhoSitePlusP48788
Domains : Interpro (EBI)Troponin    Troponin_sf   
Domain families : Pfam (Sanger)Troponin (PF00992)   
Domain families : Pfam (NCBI)pfam00992   
Conserved Domain (NCBI)TNNI2
PDB (RSDB)2MKP   
PDB Europe2MKP   
PDB (PDBSum)2MKP   
PDB (IMB)2MKP   
Structural Biology KnowledgeBase2MKP   
SCOP (Structural Classification of Proteins)2MKP   
CATH (Classification of proteins structures)2MKP   
SuperfamilyP48788
AlphaFold pdb e-kbP48788   
Human Protein Atlas [tissue]ENSG00000130598-TNNI2 [tissue]
HPRD01843
Protein Interaction databases
DIP (DOE-UCLA)P48788
IntAct (EBI)P48788
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
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
MonarchTNNI2
1000_GenomesTNNI2 
Exome Variant ServerTNNI2
GNOMAD BrowserENSG00000130598
Varsome BrowserTNNI2
ACMGTNNI2 variants
VarityP48788
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]  
Somatic Mutations in Cancer : COSMIC3DTNNI2
Mutations and Diseases : HGMDTNNI2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTNNI2
DgiDB (Drug Gene Interaction Database)TNNI2
DoCM (Curated mutations)TNNI2
CIViC (Clinical Interpretations of Variants in Cancer)TNNI2
Cancer3DTNNI2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM191043    601680   
Orphanet421    422   
DisGeNETTNNI2
MedgenTNNI2
Genetic Testing Registry TNNI2
NextProtP48788 [Medical]
GENETestsTNNI2
Target ValidationTNNI2
Huge Navigator TNNI2 [HugePedia]
ClinGenTNNI2
Clinical trials, drugs, therapy
MyCancerGenomeTNNI2
Protein Interactions : CTDTNNI2
Pharm GKB GenePA36635
PharosP48788
Clinical trialTNNI2
Miscellaneous
canSAR (ICR)TNNI2
HarmonizomeTNNI2
DataMed IndexTNNI2
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTNNI2
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 15:35:48 CEST 2021
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