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CKMT2 (creatine kinase, mitochondrial 2)

Identity

Alias_namescreatine kinase
Alias_symbol (synonym)SMTCK
Other alias
HGNC (Hugo) CKMT2
LocusID (NCBI) 1160
Atlas_Id 40090
Location 5q14.1  [Link to chromosome band 5q14]
Location_base_pair Starts at 81233320 and ends at 81266398 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CKMT2 (5q14.1) / ZCCHC9 (5q14.1)

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

 


External links

Nomenclature
HGNC (Hugo)CKMT2   1996
Cards
Entrez_Gene (NCBI)CKMT2  1160  creatine kinase, mitochondrial 2
AliasesSMTCK
GeneCards (Weizmann)CKMT2
Ensembl hg19 (Hinxton)ENSG00000131730 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131730 [Gene_View]  chr5:81233320-81266398 [Contig_View]  CKMT2 [Vega]
ICGC DataPortalENSG00000131730
TCGA cBioPortalCKMT2
AceView (NCBI)CKMT2
Genatlas (Paris)CKMT2
WikiGenes1160
SOURCE (Princeton)CKMT2
Genetics Home Reference (NIH)CKMT2
Genomic and cartography
GoldenPath hg38 (UCSC)CKMT2  -     chr5:81233320-81266398 +  5q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CKMT2  -     5q14.1   [Description]    (hg19-Feb_2009)
EnsemblCKMT2 - 5q14.1 [CytoView hg19]  CKMT2 - 5q14.1 [CytoView hg38]
Mapping of homologs : NCBICKMT2 [Mapview hg19]  CKMT2 [Mapview hg38]
OMIM123295   
Gene and transcription
Genbank (Entrez)AK122769 AK313293 AW300490 BC029140 CR450315
RefSeq transcript (Entrez)NM_001099735 NM_001099736 NM_001825
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CKMT2
Cluster EST : UnigeneHs.80691 [ NCBI ]
CGAP (NCI)Hs.80691
Alternative Splicing GalleryENSG00000131730
Gene ExpressionCKMT2 [ NCBI-GEO ]   CKMT2 [ EBI - ARRAY_EXPRESS ]   CKMT2 [ SEEK ]   CKMT2 [ MEM ]
Gene Expression Viewer (FireBrowse)CKMT2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1160
GTEX Portal (Tissue expression)CKMT2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17540   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP17540  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17540
Splice isoforms : SwissVarP17540
Catalytic activity : Enzyme2.7.3.2 [ Enzyme-Expasy ]   2.7.3.22.7.3.2 [ IntEnz-EBI ]   2.7.3.2 [ BRENDA ]   2.7.3.2 [ KEGG ]   
PhosPhoSitePlusP17540
Domaine pattern : Prosite (Expaxy)PHOSPHAGEN_KINASE (PS00112)    PHOSPHAGEN_KINASE_C (PS51510)    PHOSPHAGEN_KINASE_N (PS51509)   
Domains : Interpro (EBI)ATP-guanido_PTrfase    ATP-guanido_PTrfase_AS    ATP-guanido_PTrfase_cat    ATP-guanido_PTrfase_N    Gln_synth/guanido_kin_cat_dom   
Domain families : Pfam (Sanger)ATP-gua_Ptrans (PF00217)    ATP-gua_PtransN (PF02807)   
Domain families : Pfam (NCBI)pfam00217    pfam02807   
Conserved Domain (NCBI)CKMT2
DMDM Disease mutations1160
Blocks (Seattle)CKMT2
PDB (SRS)4Z9M   
PDB (PDBSum)4Z9M   
PDB (IMB)4Z9M   
PDB (RSDB)4Z9M   
Structural Biology KnowledgeBase4Z9M   
SCOP (Structural Classification of Proteins)4Z9M   
CATH (Classification of proteins structures)4Z9M   
SuperfamilyP17540
Human Protein AtlasENSG00000131730
Peptide AtlasP17540
HPRD00425
IPIIPI00015141   IPI00966163   IPI00965216   
Protein Interaction databases
DIP (DOE-UCLA)P17540
IntAct (EBI)P17540
FunCoupENSG00000131730
BioGRIDCKMT2
STRING (EMBL)CKMT2
ZODIACCKMT2
Ontologies - Pathways
QuickGOP17540
Ontology : AmiGOcreatine kinase activity  ATP binding  mitochondrion  mitochondrial inner membrane  creatine metabolic process  muscle contraction  phosphorylation  
Ontology : EGO-EBIcreatine kinase activity  ATP binding  mitochondrion  mitochondrial inner membrane  creatine metabolic process  muscle contraction  phosphorylation  
Pathways : KEGGArginine and proline metabolism   
NDEx NetworkCKMT2
Atlas of Cancer Signalling NetworkCKMT2
Wikipedia pathwaysCKMT2
Orthology - Evolution
OrthoDB1160
GeneTree (enSembl)ENSG00000131730
Phylogenetic Trees/Animal Genes : TreeFamCKMT2
HOVERGENP17540
HOGENOMP17540
Homologs : HomoloGeneCKMT2
Homology/Alignments : Family Browser (UCSC)CKMT2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCKMT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CKMT2
dbVarCKMT2
ClinVarCKMT2
1000_GenomesCKMT2 
Exome Variant ServerCKMT2
ExAC (Exome Aggregation Consortium)CKMT2 (select the gene name)
Genetic variants : HAPMAP1160
Genomic Variants (DGV)CKMT2 [DGVbeta]
DECIPHERCKMT2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCKMT2 
Mutations
ICGC Data PortalCKMT2 
TCGA Data PortalCKMT2 
Broad Tumor PortalCKMT2
OASIS PortalCKMT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCKMT2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCKMT2
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 CKMT2
DgiDB (Drug Gene Interaction Database)CKMT2
DoCM (Curated mutations)CKMT2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CKMT2 (select a term)
intoGenCKMT2
Cancer3DCKMT2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123295   
Orphanet
MedgenCKMT2
Genetic Testing Registry CKMT2
NextProtP17540 [Medical]
TSGene1160
GENETestsCKMT2
Target ValidationCKMT2
Huge Navigator CKMT2 [HugePedia]
snp3D : Map Gene to Disease1160
BioCentury BCIQCKMT2
ClinGenCKMT2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1160
Chemical/Pharm GKB GenePA26534
Clinical trialCKMT2
Miscellaneous
canSAR (ICR)CKMT2 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCKMT2
EVEXCKMT2
GoPubMedCKMT2
iHOPCKMT2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:28:34 CEST 2017

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