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CKM Gene

protein-coding   GIFtS: 68
GCID: GC19M045809

Creatine Kinase, Muscle


(Previous symbol: CKMM)
  See CKM-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Creatine Kinase, Muscle1 2     EC 2.7.3.23 8
CKMM1 2 3 5     Creatine Kinase M-Type2
Creatine Kinase M Chain2 3     EC 2.7.38
M-CK2 3     

External Ids:    HGNC: 19941   Entrez Gene: 11582   Ensembl: ENSG000001048797   OMIM: 1233105   UniProtKB: P067323   

Export aliases for CKM gene to outside databases

Previous GC identifers: GC19M046454 GC19M046200 GC19M050485 GC19M050501 GC19M042241


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CKM Gene:
The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum
marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP
and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other
tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the
ATP:guanido phosphotransferase protein family. (provided by RefSeq, Jul 2008)

GeneCards Summary for CKM Gene:
CKM (creatine kinase, muscle) is a protein-coding gene. Diseases associated with CKM include mcleod syndrome, and neuroacanthocytosis. GO annotations related to this gene include creatine kinase activity. An important paralog of this gene is CKB.

UniProtKB/Swiss-Prot: KCRM_HUMAN, P06732
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

Gene Wiki entry for CKM Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CKM gene promoter:
         USF1   USF-1   MyoD   Pax-4a   Arnt   Roaz   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCKM promoter sequence
   Search Chromatin IP Primers for CKM

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CKM


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

Entrez Gene cytogenetic band: 19q13.32   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.32

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M045809:  view genomic region     (about GC identifiers)

Start:
45,809,671 bp from pter      End:
45,826,235 bp from pter
Size:
16,565 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KCRM_HUMAN, P06732 (See protein sequence)
Recommended Name: Creatine kinase M-type  
Size: 381 amino acids; 43101 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
1 PDB 3D structure from and Proteopedia for CKM:
1I0E (3D)    
Secondary accessions: Q96QL9

Explore the universe of human proteins at neXtProt for CKM: NX_P06732

Explore proteomics data for CKM at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CKM (P06732) (see all 26)
     CPSNLGT  NEEDHLR  GGDDLDP  AGDEESY 


    See CKM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001815.2  
    ENSEMBL proteins: 
     ENSP00000221476  
    Reactome Protein details: P06732

    CKM Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CKM

     
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    antibodies-online proteins for CKM (46 products) 

     
    antibodies-online peptides for CKM

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    antibodies-online kits for CKM (51 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     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 P06732

    ProtoNet protein and cluster: P06732

    1 Blocks protein domain: IPB000749 ATP:guanido phosphotransferase

    UniProtKB/Swiss-Prot: KCRM_HUMAN, P06732
    Similarity: Belongs to the ATP:guanido phosphotransferase family
    Similarity: Contains 1 phosphagen kinase C-terminal domain
    Similarity: Contains 1 phosphagen kinase N-terminal domain


    Find genes that share domains with CKM           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCRM_HUMAN, P06732
    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 CKM:
    creatine kinase,muscle

         Enzyme Numbers (IUBMB): EC 2.7.3.21 2 EC 2.7.32

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004111creatine kinase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----
    GO:0016772transferase activity, transferring phosphorus-containing groups ----
         
    Find genes that share ontologies with CKM           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CKM:
     Increased viability after born 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ckm):
     cardiovascular system  cellular  growth/size/body  homeostasis/metabolism  muscle 

    Find genes that share phenotypes with CKM           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CKM: Ckmtm1Bew Ckmtm2Bew

       genOway: Develop your customized and physiologically relevant rodent model for CKM

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    hsa-miR-3140-3p hsa-miR-663 hsa-miR-1908
    SwitchGear 3'UTR luciferase reporter plasmidCKM 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for CKM 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KCRM_HUMAN, P06732: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton2
    mitochondrion2
    nucleus2
    plasma membrane2
    extracellular1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    Find genes that share ontologies with CKM           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CKM About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Creatine metabolism0.00
    creatine-phosphate biosynthesis0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Arginine and proline metabolism
    Arginine and proline metabolism
    Urea cycle and metabolism of amino groups0.00
    4Regulation of retinoblastoma protein
    Regulation of retinoblastoma protein
    5AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway


    Find genes that share SuperPaths with CKM           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CKM
        AMPK Enzyme Complex Pathway

    3 BioSystems Pathways for CKM
        creatine-phosphate biosynthesis
    Regulation of retinoblastoma protein
    Urea cycle and metabolism of amino groups


    1 Reactome Pathway for CKM
        Creatine metabolism

    1 PharmGKB Pathway for CKM
        Abacavir Pathway, Pharmacokinetics/Pharmacodynamics

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

        Pathway & Disease-focused RT2 Profiler PCR Array including CKM: 
              Cardiotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CKM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CKM (P067323 ENSP000002214764) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM63Q969Q13, ENSP000003633904I2D: score=2 STRING: ENSP00000363390
    CKBP122773, ENSP000002991984I2D: score=1 STRING: ENSP00000299198
    TRIM54Q9BYV23, ENSP000002960984I2D: score=1 STRING: ENSP00000296098
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    MYOM2P542963, ENSP000002621134I2D: score=1 STRING: ENSP00000262113
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006600creatine metabolic process TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0046314phosphocreatine biosynthetic process IEA--

    Find genes that share ontologies with CKM           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CKM (KCRM)

    4 HMDB Compounds for CKM    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--

    4 DrugBank Compounds for CKM    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (Diaminomethyl-Methyl-Amino)-Acetic Acid-- --target--17139284 17016423 10592235
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423 10592235
    Creatine
    • (alpha-Methylguanido)acetic acid
    • Creatine (8CI)
    • Creatine, hydrate
    • Methylguanidoacetic acid
    • N-Amidinosarcosine
    • N-Methyl-N-guanylglycine
    (see top 1)
    57-00-1targetligand17000714 1731757 17389266
    D-Arginine-- 157-06-2target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for CKM gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 84.5 273 19327508 (5), 9808283 (5), 1690725 (3), 9756613 (3) (see all 99)
    phosphocreatine 39.7 2 18979206 (1)
    glycogen 18.9 5 18560415 (2), 15922959 (1)
    percoll 14.9 1 8833742 (1)
    atp 12 4 9516180 (1), 1950416 (1), 18979206 (1)
    pyruvate 9.82 1 9740064 (1)
    chloramphenicol 5.5 1 1690725 (1)
    calcium 3.94 1 15389566 (1)
    oxygen 0 1 11708401 (1)
    nitric oxide 0 1 8617220 (1)



    Find genes that share compounds with CKM           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CKM gene: 
    NM_001824.4  

    Unigene Cluster for CKM:

    Creatine kinase, muscle
    Hs.334347  [show with all ESTs]
    Unigene Representative Sequence: NM_001824
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000221476(uc002pbd.3)
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCKM 3' UTR sequence
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    Additional mRNA sequence: 

    AK129878.1 AK300730.1 AK313281.1 BC007462.1 BT006793.1 M14780.1 M16440.1 

    16 DOTS entries:

    DT.86999432  DT.91755914  DT.100820874  DT.121502341  DT.102828559  DT.100820873  DT.121502345  DT.100820875 
    DT.121502338  DT.91755923  DT.100820876  DT.100820872  DT.100820877  DT.87000155  DT.95369564  DT.100031850 

    Selected AceView cDNA sequences (see all 987):

    BQ941643 AJ573003 F21295 F24524 F15639 F29199 F33674 F25434 
    AL599011 F26757 F28905 F30035 F29802 F30037 F30227 F26050 
    AJ573041 F15513 F27276 F27175 CF552199 F34400 F18094 F22753 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CKM    About this scheme

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


    ECgene alternative splicing isoforms for CKM

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CKM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCCCCGCCC
    CKM Expression
    About this image


    CKM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Thyroid (Endocrine System)
     
     Testis (Reproductive System)
    CKM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CKM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.334347
        Pathway & Disease-focused RT2 Profiler PCR Array including CKM: 
              Cardiotoxicity in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CKM

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CKM gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ckm1 , 5 creatine kinase, muscle1, 5 90.29(n)1
    96.59(a)1
      7 (9.67 cM)5
    127151  NM_007710.21  NP_031736.11 
     194110945 
    chicken
    (Gallus gallus)
    Aves CKM1 creatine kinase, muscle 81.45(n)
    90.29(a)
      396507  NM_205507.1  NP_990838.1 
    lizard
    (Anolis carolinensis)
    Reptilia CKM6
    creatine kinase, muscle
    93(a)
    1 ↔ 1
    GL344965.1(1198-12130)
    African clawed frog
    (Xenopus laevis)
    Amphibia ckm-prov2 creatine kinase, muscle 80.36(n)    BC042249.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ckm2 creatine kinase, muscle 82.81(n)   30095  BC056706.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Argk3 phosphorylation arginine kinase 39(a)
    (best of 3)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea ZC434.83 arginine kinase 39(a)
    (best of 4)
      I(10356154-10357374)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CKM gene
    CKB2  CKMT1B2  CKMT22  CKMT1A2  
    4 SIMAP similar genes for CKM using alignment to 1 protein entry:     KCRM_HUMAN:
    CKB    CKMT2    CKMT1B    CKMT1A

    Find genes that share paralogs with CKM           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CKM (see all 535)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs81119891,2
    C,F,A,H--45809208(+) AGCCAT/CGGCAG 1 -- int129Minor allele frequency- C:0.34NS EA NA WA CSA 3084
    rs178756311,2
    C,F--45809265(-) GTCCCG/ATCTGA 1 -- int12Minor allele frequency- A:0.01NS 80
    rs1896109641,2
    --45809333(+) CTCAAA/CACTGG 1 -- int10--------
    rs178756301,2
    C,F--45809344(-) CCCAAC/TGGTCT 1 -- int14Minor allele frequency- T:0.07NS WA 200
    rs1816688081,2
    --45809554(+) AACTTA/TGCCTC 1 -- int10--------
    rs1118437491,2
    C--45809672(+) AAGCTT/AAGGCC 1 -- ut311Minor allele frequency- A:0.00CSA 1
    rs753793651,2
    F--45809685(+) CAATGC/TTTTTA 1 -- ut311Minor allele frequency- T:0.01NA 120
    rs1861891121,2
    --45809697(+) TTATCA/GCTTTG 1 -- ut310--------
    rs178756291,2
    C,F,H--45809750(-) TCTAGT/CTAATG 1 -- ut31 ese314Minor allele frequency- C:0.03NS NA WA 1526
    rs178756281,2
    C,F--45809886(-) CTCTCT/CCCACC 1 -- ut31 ese34Minor allele frequency- C:0.05NS WA 210

    HapMap Linkage Disequilibrium report for CKM (45809671 - 45826235 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CKM:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660204CNV Deletion23128226
    nsv912147CNV Loss21882294
    nsv833845CNV Loss17160897
    nsv912151CNV Loss21882294
    nsv912145CNV Loss21882294
    nsv833844CNV Loss17160897
    dgv3951n71CNV Loss21882294
    nsv912146CNV Loss21882294
    dgv3952n71CNV Gain21882294
    nsv912150CNV Gain21882294

    Human Gene Mutation Database (HGMD): CKM
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CKM
    DNA2.0 Custom Variant and Variant Library Synthesis for CKM

    (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.)
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    OMIM gene information: 123310    OMIM disorders: --

    4 diseases for CKM:    
    About MalaCards
    mcleod syndrome    neuroacanthocytosis    hemophilia b    myocardial infarction

    2 diseases from the University of Copenhagen DISEASES database for CKM:
    Myocardial infarction     Myopathy

    Find genes that share disorders with CKM           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CKM gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myotonic dystrophy 75.8 19 2016086 (2), 2320244 (1), 1971149 (1), 2300239 (1) (see all 14)
    muscular dystrophies 53.9 2 12609502 (1), 11287429 (1)
    muscular dystrophy duchenne 37 1 9274724 (1)
    rhabdomyolysis 22.1 1 9522498 (1)
    ureteral stone 19.6 2 1921018 (1), 1413305 (1)
    acute myocardial infarction 14.4 1 7656437 (1)
    urolithiasis 14.1 2 1921018 (1), 1413305 (1)
    myositis 9.45 1 1370861 (1)
    renal stone 7.03 2 1921018 (1), 1413305 (1)
    necrosis 3.86 1 8617220 (1)

    Genetic Association Database (GAD): CKM
    Human Genome Epidemiology (HuGE) Navigator: CKM (13 documents)

    Export disorders for CKM 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)
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    PubMed articles for CKM gene, integrated from 10 sources (see all 250):
    (articles sorted by number of sources associating them with CKM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Muscle-specific creatine kinase gene polymorphism and running economy responses to an 18-week 5000-m training programme. (PubMed id 17000714)1, 4, 7, 9 Zhou D.Q....Wen L. (Br J Sports Med 2006)
    2. Is there an association between ACE and CKMM polymorphisms and cycling performance status during 3-week races? (PubMed id 16037885)1, 4, 9 LucA-a A....Earnest C.P. (Int J Sports Med 2005)
    3. Muscle creatine kinase isoenzyme expression in adult human brain. (PubMed id 1690725)1, 2, 9 Hamburg R.J.... Perryman M.B. (J. Biol. Chem. 1990)
    4. Does the polygenic profile determine the potential for becoming a world-class athlete? Insights from the sport of rowing. (PubMed id 19422651)1, 4, 9 Santiago C....Lucia A. (amp 2010)
    5. [An A/G polymorphism in muscle-specific creatine kinase gene in Han population in Northern China]. (PubMed id 16120572)1, 4, 9 Zhou D.Q....Gong L. (Yi Chuan 2005)
    6. The caregene study: muscle-specific creatine kinase gene and aerobic power in coronary artery disease. (PubMed id 16079652)1, 4, 9 Defoor J....Vanhees L. (amp 2005)
    7. Crystallization and preliminary X-ray analysis of human muscle creatine kinase. (PubMed id 10089465)1, 2, 9 Tang L.... Lin Z.J. (Acta Crystallogr. D 1999)
    8. Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PubMed id 20588308)1, 4 Silva L.K....Teixeira M.G. (Eur. J. Hum. Genet. 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. World-class performance in lightweight rowing: is it genetically influenced? A comparison with cyclists, runners and non-athletes. (PubMed id 18801770)1, 4 Muniesa C.A....Lucia A. (Br J Sports Med 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1158 HGNC: 1994 AceView: CKM Ensembl:ENSG00000104879 euGenes: HUgn1158
    ECgene: CKM Kegg: 1158 H-InvDB: CKM

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CKM Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Creatine_kinase
    SeattleSNPshttp://pga.gs.washington.edu/data/ckm/
    Wikipedia http://en.wikipedia.org/wiki/CKM_(gene)

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

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



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