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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CKB Gene

protein-coding   GIFtS: 67
GCID: GC14M103986

creatine kinase, brain


(Previous symbol: CKBB)
 Explore 62 diseases affiliated with
CKB via our new
 Human Malady Compendium 
Biological research products
for CKB
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Creatine Kinase, Brain1 2     EC 2.7.3.23 8
CKBB1 2 3 5     Creatine Kinase B-Type2
Creatine Kinase B Chain2 3     Creatine Kinase-B2
B-CK2 3     EC 2.7.38

External Ids:    HGNC: 19911   Entrez Gene: 11522   Ensembl: ENSG000001661657   OMIM: 1232805   UniProtKB: P122773   

Export aliases for CKB gene to outside databases

Previous GC identifers: GC14M101377 GC14M097801 GC14M101976 GC14M103055


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CKB:
The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly
catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a
homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The
encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been
characterized. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: KCRB_HUMAN, P12277
Function: Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate).
Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy
demands, such as skeletal muscle, heart, brain and spermatozoa




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CKB gene promoter:
         Max1   USF1   AP-2alpha isoform 3   USF-1:USF-2   AP-2alpha isoform 2   SRY   USF-1   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCKB promoter sequence
   Search SABiosciences Chromatin IP Primers for CKB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CKB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32   Ensembl cytogenetic band:  14q32.32   HGNC cytogenetic band: 14q32.32

CKB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CKB gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M103986:  view genomic region     (about GC identifiers)

Start:
103,985,996 bp from pter      End:
103,989,448 bp from pter
Size:
3,453 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KCRB_HUMAN, P12277 (See protein sequence)
Recommended Name: Creatine kinase B-type  
Size: 381 amino acids; 42644 Da
Subunit: Dimer of identical or non-identical chains. With MM being the major form in skeletal muscle and myocardium, MB
existing in myocardium, and BB existing in many tissues, especially brain
Subcellular location: Cytoplasm
3 PDB 3D structures from and Proteopedia for CKB:
3B6R (3D)        3DRB (3D)        3DRE (3D)    
Secondary accessions: A8K236 B2R5R4 Q2LE07 Q6FG40 Q9UC66

Explore the universe of human proteins at neXtProt for CKB: NX_P12277

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P12277

  • 4/28 DME Specific Peptides for CKB (P12277) (see all 28)
     CPSNLGT  NEEDHLR  GGDDLDP  SEVELVQ 

    CKB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001814.2  
    ENSEMBL proteins: 
     ENSP00000299198   ENSP00000451680   ENSP00000450676   ENSP00000451426   ENSP00000451686  
     ENSP00000451904   ENSP00000451611  
    Reactome Protein details: P12277
    Human Recombinant Protein Products: 
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    Uscn Proteins for CKB

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--


    CKB for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CKB for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR000749 ATP-guanido_PTrfase
     IPR014746 Gln_synth/guanido_kin_cat_dom
     IPR022413 ATP-guanido_PTrfase_N
     IPR022415 ATP-guanido_PTrfase_AS
     IPR022414 ATP-guanido_PTrfase_cat

    Graphical View of Domain Structure for InterPro Entry P12277

    ProtoNet protein and cluster: P12277

    1 Blocks protein family: IPB000749 ATP:guanido phosphotransferase

    UniProtKB/Swiss-Prot: KCRB_HUMAN, P12277
    Similarity: Belongs to the ATP:guanido phosphotransferase family
    Similarity: Contains 1 phosphagen kinase C-terminal domain
    Similarity: Contains 1 phosphagen kinase N-terminal domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: KCRB_HUMAN, P12277
    Function: Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate).
    Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy
    demands, such as skeletal muscle, heart, brain and spermatozoa
    Catalytic activity: ATP + creatine = ADP + phosphocreatine

         Genatlas biochemistry entry for CKB:
    creatine kinase,brain

    Enzyme Numbers (IUBMB): EC 2.7.3.21 2 EC 2.7.32

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate CKB:
    hsa-miR-3926 hsa-miR-3613-3p hsa-miR-205* hsa-miR-618 hsa-miR-139-5p hsa-miR-1258
    SwitchGear 3'UTR luciferase reporter plasmidCKB 3' UTR sequence
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004111creatine kinase activity IEA--
    GO:0005515protein binding IPI19060904
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----


    CKB for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CKB:
     Decreased 12E8 tau but not tot 

    Animal Models:
         Mouse knock-out Ckbtm1Bew for CKB
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ckb):
     behavior/neurological  growth/size  nervous system 

    CKB for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    2Arginine and proline metabolism
    Arginine and proline metabolism1.00
    Urea cycle and metabolism of amino groups0.36
    3creatine-phosphate biosynthesis
    creatine-phosphate biosynthesis1.00
    Creatine metabolism0.38
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for CKB 
        creatine-phosphate biosynthesis
    Urea cycle and metabolism of amino groups

    3        Reactome Pathways for CKB
        Creatine metabolism
    Metabolism
    Metabolism of amino acids and derivatives


    2         Kegg Pathways  (Kegg details for CKB):
        Arginine and proline metabolism
    Metabolic pathways


    CKB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CKB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/70 Interacting proteins for CKB (P122771, 2, 3 ENSP000002991984) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFKB1P198382, 3, ENSP000002265744MINT-48546 I2D: score=1 STRING: ENSP00000226574
    TAB1Q157502, 3MINT-8260064 I2D: score=2 
    CGBP012333I2D: score=1 
    CGB5P012333I2D: score=1 
    CGB7P012333I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006600creatine metabolic process TAS--
    GO:0007420brain development IEA--
    GO:0030644cellular chloride ion homeostasis IEA--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--


    CKB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CKB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CKB

    4 HMDB Compounds for CKB    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Creatine((amino(imino)methyl)(methyl)amino)acetate (see all 17)57-00-1--
    PhosphocreatineCreatine phosphate (see all 15)67-07-2--

    1 DrugBank Compound for CKB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Creatine(alpha-Methylguanido)acetic acid (see all 6)57-00-1targetligand17036164 17148442 16875703 1731757

    10/29 Novoseek chemical compound relationships for CKB gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 85.8 294 19337362 (6), 11804344 (4), 9547297 (4), 7781040 (3) (see all 99)
    tamoxifen methiodide 85.1 2 11384866 (1), 9010344 (1)
    phosphocreatine 60.9 9 8923416 (3), 20520825 (2), 1531784 (1), 8940627 (1)
    raloxifene 32.1 2 11384866 (1), 9010344 (1)
    atp 31.5 11 19333390 (2), 17029789 (1), 15892163 (1), 1950416 (1) (see all 7)
    lactate 29.6 18 1541099 (2), 8634377 (2), 7841274 (2), 17934974 (1) (see all 10)
    tamoxifen 26.3 2 11384866 (1), 9010344 (1)
    isocitrate 23.8 2 8567810 (1), 16912971 (1)
    aspartate 21.8 5 7841727 (1), 18552983 (1), 1601350 (1), 8634377 (1) (see all 5)
    percoll 16.5 1 8833742 (1)

    Search CenterWatch for drugs/clinical trials and news about CKB / KCRB 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CKB gene: 
    NM_001823.4  

    Unigene Cluster for CKB:

    Creatine kinase, brain
    Hs.173724  [show with all ESTs]
    Unigene Representative Sequence: BC040666
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000348956(uc001ynf.2) ENST00000554989 ENST00000554282 ENST00000553528
    ENST00000553652 ENST00000553610 ENST00000555039 ENST00000555366 ENST00000557569
    ENST00000554426 ENST00000553878 ENST00000557287 ENST00000555659 ENST00000554705
    ENST00000555770 ENST00000557530 ENST00000553994

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    hsa-miR-3926 hsa-miR-3613-3p hsa-miR-205* hsa-miR-618 hsa-miR-139-5p hsa-miR-1258
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    Additional cDNA sequence: 

    AK290101.1 AK298198.1 AK312282.1 BC001190.1 BC004914.2 BC008323.1 BC010002.2 BC019259.1 
    BC019281.1 BC040666.2 BC111085.1 CR542268.1 L47647.1 M16364.1 M16451.1 

    24/53 DOTS entries (see all 53):

    DT.100688053  DT.100856085  DT.97795378  DT.40291664  DT.100656447  DT.100679969  DT.91799070  DT.100772203 
    DT.40310087  DT.120747593  DT.102837438  DT.91670517  DT.95302733  DT.95309524  DT.87017656  DT.100641046 
    DT.120747483  DT.120747499  DT.91765918  DT.95309516  DT.100679979  DT.91982828  DT.97864534  DT.100846484 

    24/1026 AceView cDNA sequences (see all 1026):

    CR602935 NM_001823 CB268254 BM684665 AU104790 BU932063 BQ943624 CR604078 
    AU104802 BQ924133 CR594482 BG570286 BI333755 F04008 CB154849 BM662176 
    CR620989 BQ638225 BM920629 CB156444 BP347556 BM690883 CD674612 AA338423 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CKB (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c
    SP1:                          -                 -                 -     -     -           -                                 
    SP2:                                            -                 -     -     -           -     -                           
    SP3:              -           -                 -                                                                           
    SP4:                                                                                      -                                 
    SP5:                          -                 -                                                                           


    ECgene alternative splicing isoforms for CKB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CKB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACCCCTGAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    CKB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeHindgutHindgut Endoderm CellsEndoderm
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    OvaryOvigerous CordOvarian Somatic CellsOvary
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BrainHypothalamusBrain
    BrainMedulla OblongataBrain
    Gut TubeHindgutGut Tube
    Gut TubeMidgutGut Tube
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)
    Sox17-GFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage

    See CKB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CKB

    SOURCE GeneReport for Unigene cluster: Hs.173724
        SABiosciences Expression via Pathway-Focused PCR Arrays including CKB: 
              Estrogen Receptor Signaling in human mouse rat
              Amino Acid Metabolism I in human mouse rat

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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CKB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CKB gene from 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CKB1 creatine kinase, brain 79.44(n)
    90.55(a)
      396248  NM_205310.1  NP_990641.1 
    lizard
    (Anolis carolinensis)
    Reptilia CKB6
    --
    (see all 3)
    --
    91(a)
    82(a)
    (see all 3)
    1 ↔ 1
    possible ortholog
    (see all 3)
    GL343232.1(119641-137426)
    GL343267.1(1341512-1341911)
    zebrafish
    (Danio rerio)
    Actinopterygii AY055849.12   -- 79.33(n)   140744  AY055849.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Argk3 phosphorylation arginine kinase 38(a)
    (best of 3)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea F32B5.13 phosphotransferase 40(a)
    (best of 4)
      I(2700421-2702083)   --


    ENSEMBL Gene Tree for CKB (if available)
    TreeFam Gene Tree for CKB (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CKB gene
    CKM2  CKMT1B2  CKMT22  CKMT1A2  
    4 SIMAP similar genes for CKB using alignment to 7 protein entries:     KCRB_HUMAN (see all proteins):
    CKM    CKMT1B    CKMT1A    CKMT2

    CKB for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CKB
    PGOHUM00000261881


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/101 NCBI SNPs in CKB are shown (see all 101    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs344715671,2
    C,F,H,--103985632(-) TCCAAC/TTGGCT 1 -- ds50018Minor allele frequency- T:0.00NS NA 686
    rs360891681,2
    C,F,--103985726(-) TGGCAC/TGTTCC 1 -- ds50017Minor allele frequency- T:0.04NS WA 296
    rs775424271,2
    --103985771(+) TCAGGC/TCTGGA 1 -- ds50011Minor allele frequency- T:0.01EA 120
    rs356832151,2
    C,F,--103985795(-) CATGGG/AAGAGA 1 -- ds50017Minor allele frequency- A:0.04NS WA 310
    rs1469548541,2
    --103985812(+) CCTGCA/GCAGCC 1 -- ds50010--------
    rs342447281,2
    C,F,--103985819(-) TCTATC/TGGGCT 1 -- ds50016Minor allele frequency- T:0.04NS WA 308
    rs353584071,2
    C,F,--103985868(-) CCACTC/GTGTTC 1 -- ds50016Minor allele frequency- G:0.01NS NA 310
    rs753557221,2
    C--103985901(+) TCTCAC/GAGAAG 1 -- ds50010--------
    rs1118670521,2
    C--103986003(+) GACGCT/AGGCAG 1 -- ut311Minor allele frequency- A:0.00CSA 1
    rs1129745591,2
    C--103986155(+) CAGGCT/AATAAG 1 -- ut311Minor allele frequency- A:0.00CSA 1

    HapMap Linkage Disequilibrium report for CKB (103985996 - 103989448 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CKB
         1 CNV: 66717
    Human Gene Mutation Database (HGMD): CKB

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CKB for disorders           About GeneDecksing

    OMIM gene information: 123280    OMIM disorders: --

    20/62 diseases for CKB (see all 62):    About MalaCards
    age related macular degeneration    myocardial infarction    traumatic brain injury    duchenne muscular dystrophy
    acute myocardial infarction    brain injury    macular degeneration    urolithiasis
    muscular dystrophy    brain ischemia    bacterial meningitis    myotonic dystrophy
    giant cell tumor    head injury    acute lymphoblastic leukemia    meningitis
    dilated cardiomyopathy    lymphoblastic leukemia    maculopathy    epithelial ovarian cancer

    1 disease from the University of Copenhagen DISEASES database for CKB:
    Myocardial infarction

    10/43 Novoseek disease relationships for CKB gene (see all 43)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fetal acidosis 54.7 1 7823262 (1)
    bowel infarction 42.4 1 1935497 (1)
    encephalopathies hypoxic-ischemic 39.2 2 12736385 (1)
    anoxic encephalopathy 37.3 1 8509798 (1)
    acute myocardial infarction 33.3 7 8120516 (3), 1511070 (1), 2096250 (1)
    meningitis bacterial 33.3 1 7841727 (1)
    brain ischemia 29.7 1 8509798 (1)
    asphyxia 28.7 7 10732307 (4), 12736385 (2), 2303153 (1)
    small cell lung cancer 27.1 5 1645850 (1), 1645171 (1), 7657349 (1), 1766488 (1)
    involvement cns 24.6 3 8402452 (3)

    Genetic Association Database (GAD): CKB
    Human Genome Epidemiology (HuGE) Navigator: CKB (20 documents)

    Export disorders for CKB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CKB gene, integrated from 9 sources (see all 255):
    (articles sorted by number of sources associating them with CKB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ankyrin repeat and suppressors of cytokine signaling box protein asb-9 targets creatine kinase B for degradation. (PubMed id 17148442)1, 7, 9 Debrincat M.A....Hilton D.J. (2007)
    2. Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. (PubMed id 16384981)1, 4, 9 Haines J.L....Pericak-Vance M.A. (2006)
    3. Structural studies of human brain-type creatine kinase complexed with the ADP-Mg2+-NO3- -creatine transition-state analogue complex. (PubMed id 18977227)1, 2 Bong S.M....Hwang K.Y. (2008)
    4. Brain-type creatine kinase BB-CK interacts with the Golgi Matrix Protein GM130 in early prophase. (PubMed id 17036164)1, 7 Burklen T.S....Wallimann T. (2007)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Determination of the catalytic site of creatine kinase by site- directed mutagenesis. (PubMed id 8186255)1, 2 Lin L.... Ma T.S. (1994)
    7. Complete nucleotide sequence of the human creatine kinase B gene. (PubMed id 2771648)1, 2 Mariman E.C.M.... Wieringa B. (1989)
    8. Isolation of a functional human gene for brain creatine kinase. (PubMed id 2828370)1, 2 Daouk G.H.... Schimmel P. (1988)
    9. Human creatine kinase-B complementary DNA. Nucleotide sequence, gene expression in lung cancer, and chromosomal assignment to two distinct loci. (PubMed id 2883200)1, 2 Kaye F.J.... Sausville E.A. (1987)
    10. Structure and expression of the human creatine kinase B gene. (PubMed id 3692484)1, 2 Mariman E.C.M....Wieringa B. (1987)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1152 HGNC: 1991 AceView: CKB Ensembl:ENSG00000166165 euGenes: HUgn1152
    ECgene: CKB Kegg: 1152 H-InvDB: CKB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CKB Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ckb/
    Wikipedia http://en.wikipedia.org/wiki/Creatine_kinase
    Wikipedia http://en.wikipedia.org/wiki/CKB_(gene)

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CKB gene:
    Search GeneIP for patents involving CKB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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