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TK2 (thymidine kinase 2, mitochondrial)

Identity

Alias_symbol (synonym)SCA31
HGNC (Hugo) TK2
LocusID (NCBI) 7084
Atlas_Id 42577
Location 16q21  [Link to chromosome band 16q21]
Location_base_pair Starts at 66541906 and ends at 66584194 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
TK2 (16q21) / EXOC3L1 (16q22.1)TK2 16q21 / EXOC3L1 16q22.1

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(4;22)(q12;q11) BCR/PDGFRA


External links

Nomenclature
HGNC (Hugo)TK2   11831
Cards
Entrez_Gene (NCBI)TK2  7084  thymidine kinase 2, mitochondrial
AliasesMTDPS2; MTTK; SCA31
GeneCards (Weizmann)TK2
Ensembl hg19 (Hinxton)ENSG00000166548 [Gene_View]  chr16:66541906-66584194 [Contig_View]  TK2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000166548 [Gene_View]  chr16:66541906-66584194 [Contig_View]  TK2 [Vega]
ICGC DataPortalENSG00000166548
TCGA cBioPortalTK2
AceView (NCBI)TK2
Genatlas (Paris)TK2
WikiGenes7084
SOURCE (Princeton)TK2
Genetics Home Reference (NIH)TK2
Genomic and cartography
GoldenPath hg19 (UCSC)TK2  -     chr16:66541906-66584194 -  16q21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TK2  -     16q21   [Description]    (hg38-Dec_2013)
EnsemblTK2 - 16q21 [CytoView hg19]  TK2 - 16q21 [CytoView hg38]
Mapping of homologs : NCBITK2 [Mapview hg19]  TK2 [Mapview hg38]
OMIM188250   609560   
Gene and transcription
Genbank (Entrez)AF521891 AK026021 AK026041 AK294627 AK295808
RefSeq transcript (Entrez)NM_001172643 NM_001172644 NM_001172645 NM_001271934 NM_001271935 NM_001272050 NM_004614
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_016862 NT_010498 NW_004929402
Consensus coding sequences : CCDS (NCBI)TK2
Cluster EST : UnigeneHs.512619 [ NCBI ]
CGAP (NCI)Hs.512619
Alternative Splicing GalleryENSG00000166548
Gene ExpressionTK2 [ NCBI-GEO ]   TK2 [ EBI - ARRAY_EXPRESS ]   TK2 [ SEEK ]   TK2 [ MEM ]
Gene Expression Viewer (FireBrowse)TK2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7084
GTEX Portal (Tissue expression)TK2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00142   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00142  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00142
Splice isoforms : SwissVarO00142
Catalytic activity : Enzyme2.7.1.21 [ Enzyme-Expasy ]   2.7.1.212.7.1.21 [ IntEnz-EBI ]   2.7.1.21 [ BRENDA ]   2.7.1.21 [ KEGG ]   
PhosPhoSitePlusO00142
Domains : Interpro (EBI)DCK/DGK    DNK_dom    P-loop_NTPase   
Domain families : Pfam (Sanger)dNK (PF01712)   
Domain families : Pfam (NCBI)pfam01712   
Conserved Domain (NCBI)TK2
DMDM Disease mutations7084
Blocks (Seattle)TK2
SuperfamilyO00142
Human Protein AtlasENSG00000166548
Peptide AtlasO00142
HPRD01770
IPIIPI00215650   IPI00337439   IPI00955983   IPI00939299   IPI00983297   
Protein Interaction databases
DIP (DOE-UCLA)O00142
IntAct (EBI)O00142
FunCoupENSG00000166548
BioGRIDTK2
STRING (EMBL)TK2
ZODIACTK2
Ontologies - Pathways
QuickGOO00142
Ontology : AmiGOdeoxycytidine kinase activity  thymidine kinase activity  ATP binding  mitochondrial matrix  nucleobase-containing compound metabolic process  deoxyribonucleoside monophosphate biosynthetic process  nucleotide biosynthetic process  nucleotide biosynthetic process  phosphorylation  nucleoside kinase activity  pyrimidine nucleoside salvage  deoxycytidine metabolic process  thymidine metabolic process  DNA biosynthetic process  
Ontology : EGO-EBIdeoxycytidine kinase activity  thymidine kinase activity  ATP binding  mitochondrial matrix  nucleobase-containing compound metabolic process  deoxyribonucleoside monophosphate biosynthetic process  nucleotide biosynthetic process  nucleotide biosynthetic process  phosphorylation  nucleoside kinase activity  pyrimidine nucleoside salvage  deoxycytidine metabolic process  thymidine metabolic process  DNA biosynthetic process  
Pathways : KEGGPyrimidine metabolism    Drug metabolism - other enzymes   
NDEx NetworkTK2
Atlas of Cancer Signalling NetworkTK2
Wikipedia pathwaysTK2
Orthology - Evolution
OrthoDB7084
GeneTree (enSembl)ENSG00000166548
Phylogenetic Trees/Animal Genes : TreeFamTK2
HOVERGENO00142
HOGENOMO00142
Homologs : HomoloGeneTK2
Homology/Alignments : Family Browser (UCSC)TK2
Gene fusions - Rearrangements
Fusion : MitelmanTK2/EXOC3L1 [16q21/16q22.1]  
Fusion: TCGATK2 16q21 EXOC3L1 16q22.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTK2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TK2
dbVarTK2
ClinVarTK2
1000_GenomesTK2 
Exome Variant ServerTK2
ExAC (Exome Aggregation Consortium)TK2 (select the gene name)
Genetic variants : HAPMAP7084
Genomic Variants (DGV)TK2 [DGVbeta]
DECIPHER (Syndromes)16:66541906-66584194  ENSG00000166548
CONAN: Copy Number AnalysisTK2 
Mutations
ICGC Data PortalTK2 
TCGA Data PortalTK2 
Broad Tumor PortalTK2
OASIS PortalTK2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTK2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTK2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch TK2
DgiDB (Drug Gene Interaction Database)TK2
DoCM (Curated mutations)TK2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TK2 (select a term)
intoGenTK2
Cancer3DTK2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM188250    609560   
Orphanet19795    19793   
MedgenTK2
Genetic Testing Registry TK2
NextProtO00142 [Medical]
TSGene7084
GENETestsTK2
Huge Navigator TK2 [HugePedia]
snp3D : Map Gene to Disease7084
BioCentury BCIQTK2
ClinGenTK2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7084
Chemical/Pharm GKB GenePA36535
Clinical trialTK2
Miscellaneous
canSAR (ICR)TK2 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTK2
EVEXTK2
GoPubMedTK2
iHOPTK2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:53:50 CET 2016

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