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TNNC2 (troponin C2, fast skeletal type)

Identity

Alias (NCBI)CFAP85
FAP85
HGNC (Hugo) TNNC2
HGNC Previous nametroponin C type 2 (fast)
LocusID (NCBI) 7125
Atlas_Id 75037
Location 20q13.12  [Link to chromosome band 20q13]
Location_base_pair Starts at 45823216 and ends at 45827314 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)
EFCAB8 () / TNNC2 (20q13.12)MAP4 (3p21.31) / TNNC2 (20q13.12)TNNC2 (20q13.12) / HSPB1 (7q11.23)
TNNC2 (20q13.12) / PRMT2 (21q22.3)TNNC2 (20q13.12) / TNNC2 (20q13.12)

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 ]
  t(20;20)(q11;q13) EFCAB8/TNNC2

External links

Nomenclature
HGNC (Hugo)TNNC2   11944
Cards
Entrez_Gene (NCBI)TNNC2    troponin C2, fast skeletal type
AliasesCFAP85; FAP85
GeneCards (Weizmann)TNNC2
Ensembl hg19 (Hinxton)ENSG00000101470 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101470 [Gene_View]  ENSG00000101470 [Sequence]  chr20:45823216-45827314 [Contig_View]  TNNC2 [Vega]
ICGC DataPortalENSG00000101470
TCGA cBioPortalTNNC2
AceView (NCBI)TNNC2
Genatlas (Paris)TNNC2
SOURCE (Princeton)TNNC2
Genetics Home Reference (NIH)TNNC2
Genomic and cartography
GoldenPath hg38 (UCSC)TNNC2  -     chr20:45823216-45827314 -  20q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TNNC2  -     20q13.12   [Description]    (hg19-Feb_2009)
GoldenPathTNNC2 - 20q13.12 [CytoView hg19]  TNNC2 - 20q13.12 [CytoView hg38]
ImmunoBaseENSG00000101470
genome Data Viewer NCBITNNC2 [Mapview hg19]  
OMIM191039   
Gene and transcription
Genbank (Entrez)AI080746 AK291323 AK300665 BC005323 BU854061
RefSeq transcript (Entrez)NM_003279
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TNNC2
Alternative Splicing GalleryENSG00000101470
Gene ExpressionTNNC2 [ NCBI-GEO ]   TNNC2 [ EBI - ARRAY_EXPRESS ]   TNNC2 [ SEEK ]   TNNC2 [ MEM ]
Gene Expression Viewer (FireBrowse)TNNC2 [ Firebrowse - Broad ]
GenevisibleExpression of TNNC2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7125
GTEX Portal (Tissue expression)TNNC2
Human Protein AtlasENSG00000101470-TNNC2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02585   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP02585  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02585
Splice isoforms : SwissVarP02585
PhosPhoSitePlusP02585
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)TNNC2
Blocks (Seattle)TNNC2
SuperfamilyP02585
Human Protein Atlas [tissue]ENSG00000101470-TNNC2 [tissue]
Peptide AtlasP02585
HPRD08929
IPIIPI00219796   IPI00646205   
Protein Interaction databases
DIP (DOE-UCLA)P02585
IntAct (EBI)P02585
BioGRIDTNNC2
STRING (EMBL)TNNC2
ZODIACTNNC2
Ontologies - Pathways
QuickGOP02585
Ontology : AmiGOskeletal muscle contraction  skeletal muscle contraction  actin binding  calcium ion binding  protein binding  cytosol  troponin complex  troponin complex  regulation of muscle contraction  muscle filament sliding  calcium-dependent protein binding  actin filament binding  
Ontology : EGO-EBIskeletal muscle contraction  skeletal muscle contraction  actin binding  calcium ion binding  protein binding  cytosol  troponin complex  troponin complex  regulation of muscle contraction  muscle filament sliding  calcium-dependent protein binding  actin filament binding  
Pathways : KEGGCalcium signaling pathway   
NDEx NetworkTNNC2
Atlas of Cancer Signalling NetworkTNNC2
Wikipedia pathwaysTNNC2
Orthology - Evolution
OrthoDB7125
GeneTree (enSembl)ENSG00000101470
Phylogenetic Trees/Animal Genes : TreeFamTNNC2
HOGENOMP02585
Homologs : HomoloGeneTNNC2
Homology/Alignments : Family Browser (UCSC)TNNC2
Gene fusions - Rearrangements
Fusion : QuiverTNNC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTNNC2 [hg38]
dbVarTNNC2
ClinVarTNNC2
MonarchTNNC2
1000_GenomesTNNC2 
Exome Variant ServerTNNC2
GNOMAD BrowserENSG00000101470
Varsome BrowserTNNC2
Genomic Variants (DGV)TNNC2 [DGVbeta]
DECIPHERTNNC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTNNC2 
Mutations
ICGC Data PortalTNNC2 
TCGA Data PortalTNNC2 
Broad Tumor PortalTNNC2
OASIS PortalTNNC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTNNC2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTNNC2
Mutations and Diseases : HGMDTNNC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TNNC2
DgiDB (Drug Gene Interaction Database)TNNC2
DoCM (Curated mutations)TNNC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TNNC2 (select a term)
intoGenTNNC2
Cancer3DTNNC2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM191039   
Orphanet
DisGeNETTNNC2
MedgenTNNC2
Genetic Testing Registry TNNC2
NextProtP02585 [Medical]
GENETestsTNNC2
Target ValidationTNNC2
Huge Navigator TNNC2 [HugePedia]
ClinGenTNNC2
Clinical trials, drugs, therapy
MyCancerGenomeTNNC2
Protein Interactions : CTD
Pharm GKB GenePA36633
Clinical trialTNNC2
Miscellaneous
canSAR (ICR)TNNC2 (select the gene name)
HarmonizomeTNNC2
DataMed IndexTNNC2
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTNNC2
EVEXTNNC2
GoPubMedTNNC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 17:32:43 CET 2020
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