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CKB (creatine kinase B)

Identity

Alias_namesCKBB
creatine kinase
Other aliasB-CK
BCK
HEL-211
HEL-S-29
HGNC (Hugo) CKB
LocusID (NCBI) 1152
Atlas_Id 46284
Location 14q32.33  [Link to chromosome band 14q32]
Location_base_pair Starts at 103519658 and ends at 103522859 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
B4GALT5 (20q13.13) / CKB (14q32.32)CKB (14q32.32) / CKB (14q32.32)CKB (14q32.32) / LSM14B (20q13.33)
CKB (14q32.32) / SCN2A (2q24.3)FNBP1 (9q34.11) / CKB (14q32.32)KIF26A (14q32.33) / CKB (14q32.32)
PCNP (3q12.3) / CKB (14q32.32)PSAP (10q22.1) / CKB (14q32.32)SORBS2 (4q35.1) / CKB (14q32.32)
STT3A (11q24.2) / CKB (14q32.32)CKB 14q32.32 / SCN2A 2q24.3

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)CKB   1991
Cards
Entrez_Gene (NCBI)CKB  1152  creatine kinase B
AliasesB-CK; BCK; CKBB; HEL-211; 
HEL-S-29
GeneCards (Weizmann)CKB
Ensembl hg19 (Hinxton)ENSG00000166165 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166165 [Gene_View]  chr14:103519658-103522859 [Contig_View]  CKB [Vega]
ICGC DataPortalENSG00000166165
TCGA cBioPortalCKB
AceView (NCBI)CKB
Genatlas (Paris)CKB
WikiGenes1152
SOURCE (Princeton)CKB
Genetics Home Reference (NIH)CKB
Genomic and cartography
GoldenPath hg38 (UCSC)CKB  -     chr14:103519658-103522859 -  14q32.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CKB  -     14q32.33   [Description]    (hg19-Feb_2009)
EnsemblCKB - 14q32.33 [CytoView hg19]  CKB - 14q32.33 [CytoView hg38]
Mapping of homologs : NCBICKB [Mapview hg19]  CKB [Mapview hg38]
OMIM123280   
Gene and transcription
Genbank (Entrez)AK290101 AK298198 AK312282 BC001190 BC004914
RefSeq transcript (Entrez)NM_001823
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CKB
Cluster EST : UnigeneHs.173724 [ NCBI ]
CGAP (NCI)Hs.173724
Alternative Splicing GalleryENSG00000166165
Gene ExpressionCKB [ NCBI-GEO ]   CKB [ EBI - ARRAY_EXPRESS ]   CKB [ SEEK ]   CKB [ MEM ]
Gene Expression Viewer (FireBrowse)CKB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1152
GTEX Portal (Tissue expression)CKB
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12277   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12277  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12277
Splice isoforms : SwissVarP12277
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 ]   
PhosPhoSitePlusP12277
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)CKB
DMDM Disease mutations1152
Blocks (Seattle)CKB
PDB (SRS)3B6R    3DRB    3DRE   
PDB (PDBSum)3B6R    3DRB    3DRE   
PDB (IMB)3B6R    3DRB    3DRE   
PDB (RSDB)3B6R    3DRB    3DRE   
Structural Biology KnowledgeBase3B6R    3DRB    3DRE   
SCOP (Structural Classification of Proteins)3B6R    3DRB    3DRE   
CATH (Classification of proteins structures)3B6R    3DRB    3DRE   
SuperfamilyP12277
Human Protein AtlasENSG00000166165
Peptide AtlasP12277
HPRD00423
IPIIPI00022977   IPI00908811   IPI01026277   IPI01024846   IPI01025062   IPI01026498   IPI01024702   IPI01025412   
Protein Interaction databases
DIP (DOE-UCLA)P12277
IntAct (EBI)P12277
FunCoupENSG00000166165
BioGRIDCKB
STRING (EMBL)CKB
ZODIACCKB
Ontologies - Pathways
QuickGOP12277
Ontology : AmiGOcreatine kinase activity  creatine kinase activity  protein binding  ATP binding  extracellular space  nucleus  mitochondrion  cytosol  cytosol  creatine metabolic process  phosphorylation  cerebellum development  substantia nigra development  dendrite  cellular chloride ion homeostasis  ubiquitin protein ligase binding  neuronal cell body  myelin sheath  extracellular exosome  
Ontology : EGO-EBIcreatine kinase activity  creatine kinase activity  protein binding  ATP binding  extracellular space  nucleus  mitochondrion  cytosol  cytosol  creatine metabolic process  phosphorylation  cerebellum development  substantia nigra development  dendrite  cellular chloride ion homeostasis  ubiquitin protein ligase binding  neuronal cell body  myelin sheath  extracellular exosome  
Pathways : KEGGArginine and proline metabolism   
NDEx NetworkCKB
Atlas of Cancer Signalling NetworkCKB
Wikipedia pathwaysCKB
Orthology - Evolution
OrthoDB1152
GeneTree (enSembl)ENSG00000166165
Phylogenetic Trees/Animal Genes : TreeFamCKB
HOVERGENP12277
HOGENOMP12277
Homologs : HomoloGeneCKB
Homology/Alignments : Family Browser (UCSC)CKB
Gene fusions - Rearrangements
Fusion : MitelmanCKB/SCN2A [14q32.32/2q24.3]  
Fusion : MitelmanKIF26A/CKB [14q32.33/14q32.32]  [inv(14)(q32q32)]  
Fusion: TCGACKB 14q32.32 SCN2A 2q24.3 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCKB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CKB
dbVarCKB
ClinVarCKB
1000_GenomesCKB 
Exome Variant ServerCKB
ExAC (Exome Aggregation Consortium)CKB (select the gene name)
Genetic variants : HAPMAP1152
Genomic Variants (DGV)CKB [DGVbeta]
DECIPHERCKB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCKB 
Mutations
ICGC Data PortalCKB 
TCGA Data PortalCKB 
Broad Tumor PortalCKB
OASIS PortalCKB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCKB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCKB
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 CKB
DgiDB (Drug Gene Interaction Database)CKB
DoCM (Curated mutations)CKB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CKB (select a term)
intoGenCKB
Cancer3DCKB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123280   
Orphanet
MedgenCKB
Genetic Testing Registry CKB
NextProtP12277 [Medical]
TSGene1152
GENETestsCKB
Target ValidationCKB
Huge Navigator CKB [HugePedia]
snp3D : Map Gene to Disease1152
BioCentury BCIQCKB
ClinGenCKB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1152
Chemical/Pharm GKB GenePA26528
Clinical trialCKB
Miscellaneous
canSAR (ICR)CKB (select the gene name)
Probes
Litterature
PubMed105 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCKB
EVEXCKB
GoPubMedCKB
iHOPCKB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:28:32 CEST 2017

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