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

CKM Gene

protein-coding   GIFtS: 69
GCID: GC19M045809

Creatine Kinase, Muscle


(Previous symbol: CKMM)
  See 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)
About This Section

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

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 subvalvular aortic stenosis, and mcleod syndrome, and among its related super-pathways are Metabolic pathways and Creatine metabolism. GO annotations related to this gene include creatine kinase activity and ATP binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CKM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P06732

  • 4/26 DME Specific Peptides for CKM (P06732) (see all 26)
     CPSNLGT  NEEDHLR  GGDDLDP  AGDEESY 

    CKM Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CKM Protein Expression
    REFSEQ proteins: NP_001815.2  
    ENSEMBL proteins: 
     ENSP00000221476  
    Reactome Protein details: P06732
    Human Recombinant Protein Products for CKM: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for CKM
    OriGene MassSpec for CKM 
    OriGene Custom Protein Services for CKM
    GenScript Custom Purified and Recombinant Proteins Services for CKM
    Novus Biologicals CKM Proteins
    Novus Biologicals CKM Lysates
    Sino Biological Recombinant Protein for CKM
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for CKM
    Cloud-Clone Corp. Proteins for CKM 

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

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

    CKM for ontologies           About GeneDecksing



    CKM Antibody Products: 
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    Abcam antibodies for CKM
    Cloud-Clone Corp. Antibodies for CKM 
    ThermoFisher Antibodies for CKM
    LSBio Antibodies in human, mouse, rat for CKM 

    Assay Products for CKM: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CKM
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CKM 
    Cloud-Clone Corp. CLIAs for CKM


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     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 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


    CKM for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 ----
         
    CKM for ontologies           About GeneDecksing


    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  homeostasis/metabolism  muscle 

    CKM for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CKM 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CKM

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CKM 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CKM 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CKM
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate CKM:
    hsa-miR-3140-3p hsa-miR-663 hsa-miR-1908
    SwitchGear 3'UTR luciferase reporter plasmidCKM 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of CKM

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector: CKM (NM_001824)
    Sino Biological Human cDNA Clone for CKM
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CKM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CKM
    Sirion Biotech Customized lentivirus for stable overexpression of CKM 
                         Customized lentivirus expression plasmids for stable overexpression of CKM 

    Cell Line
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    Search LifeMap BioReagents cell lines for CKM
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CKM


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CKM About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2creatine-phosphate biosynthesis
    creatine-phosphate biosynthesis0.38
    Creatine metabolism0.38
    3Arginine and proline metabolism
    Arginine and proline metabolism0.35
    Urea cycle and metabolism of amino groups0.35
    4Regulation of retinoblastoma protein
    Regulation of retinoblastoma protein
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN 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


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

    1 PharmGKB Pathway for CKM
        Abacavir Pathway, Pharmacokinetics/Pharmacodynamics

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


    CKM for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CKM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/18 Interacting proteins for CKM (P067323 ENSP000002214764) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    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 (GO ID links to tree view):    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--

    CKM for ontologies           About GeneDecksing



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

    CKM for compounds           About GeneDecksing

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

    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 (see all 6)57-00-1targetligand17000714 1731757 17389266
    D-Arginine-- 157-06-2target--17139284 17016423 10592235

    10/23 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)

    Search CenterWatch for drugs/clinical trials and news about CKM / KCRM

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate CKM:
    hsa-miR-3140-3p hsa-miR-663 hsa-miR-1908
    SwitchGear 3'UTR luciferase reporter plasmidCKM 3' UTR sequence
    Inhib. RNA
    Products:
         
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    GenScript: all cDNA clones in your preferred vector: CKM (NM_001824)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CKM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CKM
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CKM

    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 

    987 AceView cDNA sequences (see top 24):

    BP334221 F31933 F18053 F29376 F30387 F20425 F31171 F31444 
    CA398119 F22796 AJ572902 F29239 F30182 F30046 F30805 AA295833 
    F29176 F16746 F15513 F33674 F33305 F30227 AJ573041 CD612932 
    F26050 F30037 F29802 F36319 F21295 F15920 F30006 F28206 
    NM_001824 BQ941643 BX379289 F18082 F27388 F25691 AL601227 F16665 
    F20544 F24170 CR601202 F25797 F28465 AJ572912 F29753 F27215 
    M16440 F28111 CF551995 F28753 C04321 BF126218 F18252 F29854 
    F31475 F15736 F19300 F31990 F22067 F24125 F26899 F26890 
    BX280458 F15831 F15631 F31033 F31055 F28905 F20289 F24524 
    F29227 F30035 AL598094 F22533 BM874705 F25856 F36374 F27971 
    C05600 F26757 F25434 F20737 AL599004 F36280 AA346181 C04711 
    CF552199 F18094 C05040 AL599011 F35273 CA398120 F18258 F29199 
    F15639 AJ573003 F30865 F34400 F27276 F22753 F31964 F27175 
    BI835773 F28462 F22727 F28142 BF574429 BF791290 AK129878 F24123 
    F19627 F33403 F34291 AJ572867 AA176402 C05415 CD612925 F34175 
    F33083 F32739 F27582 F16193 CF552465 F31572 BF672809 CD612934 
    F35270 F24644 F15739 BF672275 BF790990 F27427 F21711 F33640 
    F37367 BF790462 F28211 F26663 BF837993 F34673 AJ572975 F27703 
    AA346226 F35445 F35507 F27037 F24208 AA111993 BF790610 F19406 
    CF552732 F33360 F25236 F32000 C04070 AA196120 F28149 F25068 
    F37377 F20700 F29061 T66895 F00064 F26649 AJ573978 AL597795 
    BF694839 F18997 F22717 F24047 BQ327364 BF671612 AJ708459 CD612930 
    F29654 F26987 AA346292 F30436 CD612922 AA192277 F28091 BQ960378 
    F15987 F24227 F31810 BF576743 AA128476 F36095 F26979 F25730 
    F29244 F23345 F26826 BC007462 AL694109 F27086 F24467 F24463 
    F33593 AL695050 BF672090 BV205119 F20200 BX503012 AL598560 BX502560 
    F33858 BF790538 F24743 F32609 F28196 AJ572992 CD612899 F26019 
    F31252 CD612893 F31256 AJ573012 C04020 F17745 F19631 C05161 
    T28699 F34745 AI090503 F24122 F22716 AA196019 F32942 F28118 
    F33361 F33125 F33349 AA321919 F28848 BF126099 F31631 BP335010 
    BF574616 F32150 CD612897 F24957 F27588 BF670376 AJ573040 CD612920 
    F34146 F33702 BU631311 F29217 F28835 F28499 F32990 F33846 
    BE968679 F25792 F29060 F28383 C05347 BF576269 F20261 F35917 
    BQ922516 F22008 F36585 AA180017 F21300 BM673090 F26347 F25429 
    AA722990 BX507442 F25791 F33839 F27460 F22749 CD612903 F26753 
    AL695520 F31145 F26764 AA295080 F26546 F28722 AA112038 R57150 
    F19658 F22790 F34391 F32111 F27761 F25643 F35856 CD612906 
    F19272 F25995 AJ572995 F19244 F19185 AL601405 F24798 AL598744 
    C05385 F30451 F18821 F30328 F17683 F24621 AJ573013 F34854 
    AJ572230 AJ573086 F21987 F33012 F25879 F19526 F27791 F26476 
    BF790859 BI838060 F32160 F19352 BX499963 F28063 F30658 CD612921 
    F19299 F27126 F27111 CD612900 BM450483 AA196364 C05416 F35023 
    F27670 F33708 AA346248 F33233 F34381 F19361 F25327 BI827111 
    AJ710991 F22427 CF552932 F21329 F28830 F35094 F30550 AA176850 
    BF576277 F30000 F33026 F28964 AJ572985 N80871 F24321 AA192843 
    F36196 AA176743 CF552868 CD612926 C05434 C04845 CD612927 F19383 
    F34090 F28574 F26514 F21815 F15619 AJ572936 F32459 F24341 
    F26760 F33855 F28584 AA112793 F27061 F18265 CF551853 AA346038 
    F36269 F25957 F36323 AA197239 F33013 F26858 AJ573063 F17733 
    BF673021 F19287 F28912 AA345796 AJ572380 F32241 C03055 F37114 
    F21850 F24251 AA317642 F33340 C05531 C04866 F27868 AA478924 
    F35840 F26991 F32337 AJ572058 AJ707932 AJ572979 AA179247 F37505 
    F33840 F28607 AJ572965 AA778263 BF828738 AL598846 AA112949 F33696 
    F19355 BT006793 F36202 CD612914 BF576701 BF825640 BQ327362 F34187 
    F24075 F34916 AA086448 AA482944 F35220 F25705 F21232 F17153 
    AA196642 F25577 R57855 F32376 F36144 F27819 BF671505 AJ573028 
    BF790602 AA196032 F00063 CD612905 F19016 F17908 AA196653 AA025714 
    F19358 F26495 F31979 F33662 F32596 AJ573231 F34199 F16297 
    F00544 F26020 AJ571825 AA197130 BF692925 F35879 F25362 F16109 
    F25258 F26920 F37576 AA192228 T66871 F37031 F26278 CD612912 
    AA111913 F30970 C04088 F26303 F23359 AA086426 F25961 F20382 
    F29600 AA179112 F27604 BF673124 CD612929 BF574783 AA179027 BF671988 
    BF575414 F36099 AI246425 C05338 F33529 BF574808 BF575533 F32769 
    F26783 AA112826 F26997 CD612923 F32714 F33008 F35116 F33010 
    C04977 BF672956 F22108 F29510 F37207 F21572 CD612904 F27642 
    AA176412 F33673 F19559 AL601414 F32858 M14780 F28785 AA176521 
    F34081 F34192 AA195940 F32948 C04226 F35847 F28069 F34891 
    F28280 AJ708728 F30943 F26585 F32824 F22403 F19230 AJ709315 
    AA346049 F36603 F28657 AA112836 F35849 AA085825 F33587 F29956 
    F21460 F01338 AA085649 F00890 F17689 F33082 F35593 F24146 
    CD612913 F28100 F01084 CF551898 AL598215 AA086278 F26747 F33625 
    F19741 BF671480 BF670716 BF840531 F33879 F22440 AA478804 AA346224 
    F29255 F28213 F33356 F33374 BF670657 F01097 BF574963 F25975 
    C05320 F36022 BF840529 F26674 F01081 F34281 AA085819 BF789876 
    F00509 BF673038 AA192899 AA195969 AL695151 CD612931 F19618 C04158 
    F34774 AA100433 BF576902 R57936 AA197163 F16122 CD612898 F33162 
    CD612911 F35424 AI370852 BF576327 F35255 F16147 F24082 F19613 
    T11926 CD612894 AA193208 AA196571 F17888 AA192226 AA086421 F20698 
    F24384 BF574667 BX500039 AW984091 BX502020 F32590 F35929 AA086313 
    F32660 F32924 F28083 AJ710543 F31734 BF126251 F22326 CA390685 
    AA086327 CD612915 AJ708058 F27097 CD612916 F24568 F21198 AA214139 
    F33565 C05325 AA192310 F35397 F33352 AI193581 F34879 F22230 
    AA346060 AA197158 F25074 AA196846 F32085 F35281 BF671277 BF693033 
    F25398 C04155 AI192691 F29596 BF770930 F37660 F28553 C03023 
    F20236 AA192328 AJ346330 F19677 F37467 F25452 AA346031 AJ573886 
    AA011006 BF770927 F33072 AA086420 F16171 F27464 BF825628 AA977460 
    F32659 BX379288 F33847 AA192710 AA197131 F29785 F37499 W04731 
    AJ710554 AA195962 CD612919 AA197250 F37893 AA314046 AA178904 F29388 
    AA196547 BQ327365 C04654 AA176789 F24440 F20284 AA197164 F27865 
    AA196037 F17916 AA178935 F30749 BF790451 F21325 C05559 F19047 
    F32773 F17120 AA346252 F18872 AA192688 AA176488 F24058 F28962 
    F36584 AA086442 AA975727 AA193195 AA010901 C02813 F32304 F30180 
    F33444 AA192648 F27493 C03963 AA243705 F33583 F00667 AA178866 
    F01269 AJ710542 F33092 AA701473 BF670665 F34847 CD612902 F32961 
    F24061 AJ572490 F20497 BF576576 F22452 F32422 AJ572983 BF575857 
    F35316 F28278 F00898 F25343 F33390 F01275 AA192575 BF790232 
    F21657 BF825637 F25888 AJ709811 CD612928 F31740 AW449250 AA194342 
    AA179111 F22155 BF574218 CD612918 F27914 AA112832 F33294 BF789870 
    BF825330 AA196065 AA112731 AA179122 AA193246 BF670793 F00563 C03543 
    F26914 F22755 AA178921 F36209 AA194460 T11640 F27918 AA176673 
    F35091 F19629 F29080 AA196021 C02780 BF825636 F27253 F33129 
    CD612907 AA193547 AA214010 AJ572997 F29494 AA093112 F37926 AJ572837 
    AA176838 AA194449 AA196366 F22126 AA099639 AA086376 F33180 AA086352 
    AA100320 BF825612 AA176949 BF827504 F35087 F30905 AA112790 C03406 
    AI264868 F26329 AA112810 C03389 BF672738 BF574917 AJ572688 BF827950 
    AA093767 F00616 F19449 C02700 T19650 AA216193 AA182851 AA112721 
    F18848 BF575942 F28984 AA196113 BF790314 AA442525 F32417 F33922 
    F28037 AA086249 CD612901 F32931 F29284 AW950722 CD612933 F24456 
    AJ574115 C02718 AA176427 F24017 AA197207 AA194375 BF693206 F32812 
    AA086244 C03079 CD612908 AI016302 AA193010 F34852 C03536 AA099769 
    AA448333 AA192264 AI292300 F25480 R57025 AA180980 BF789878 AA179819 
    AA192812 AA178919 F28603 F35144 BF836257 F24178 BF825644 AI183675 
    BF575922 F22784 F36425 F34055 F25062 C04266 F29276 BF770915 
    AA086453 F24018 F01305 AA192615 C05317 AA196534 CD612924 AA181375 
    AA196097 F25122 C03730 AA196681 W07604 BF825627 C02640 F01290 
    AA180803 AA180464 AU099591 AI278015 BF575016 BF825639 F30736 AA086303 
    AJ572968 AA179894 N86694 CD612909 AA192922 F17203 AA179056 AA112732 
    BF694409 AA196847 BF843371 AA176349 AA193009 AA178978 BF825633 AA213955 
    AA197249 AA211749 F32454 AA113000 BF670751 F32015 AA179972 AA181469 
    F27479 AA197077 AA192845 BF769618 BG990872 BE968852 BQ327369 AA192585 
    CD612896 BG991741 AA214018 BF838919 BF791044 C03123 AA194783 T66896 
    AA182902 BQ327702 AI193243 CD612917 BF695155 AA192319 AA193072 AA100565 
    BF671253 AA112948 BM706602 CD612895 F36308 AA085814 AA196089 CD612910 
    AA196868 AA196581 AA102243 

    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™, 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

    CKM expression in normal human tissues (normalized intensities)      CKM embryonic expression: see
    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 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             brain/midbrain   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             heart muscle ; myocytes   
             heart/ventricle   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             skeletal muscle ; myocytes   
             cavities and their linings/intraembryonic coelom/diaphragm   
     
     Blood (Muscoskeletal System)    fully expand to see all 2 entries
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
             mouse/organ system/cardiovascular system   

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

    SOURCE GeneReport for Unigene cluster: Hs.334347
        SABiosciences Expression via Pathway-Focused PCR Array including CKM: 
              Cardiotoxicity in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for CKM
    OriGene qSTAR qPCR primer pairs in human, mouse for CKM
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CKM
    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CKM gene from 5/14 species (see all 14)    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
    Uncharacterized protein
    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 


    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)
    About This Section
    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

    CKM for paralogs           About GeneDecksing



    (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) 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

    10/535 SNPs in CKM are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 123310    OMIM disorders: --

    20/36 diseases for CKM (see all 36):    About MalaCards
    subvalvular aortic stenosis    mcleod syndrome    myocardial infarction    hemophilia b
    varicocele    hemophilia    myotonic dystrophy    duchenne muscular dystrophy
    ischemic heart disease    neuromuscular disease    acute myocardial infarction    glucose intolerance
    dengue hemorrhagic fever    myocarditis    glycogen storage disease    myositis
    muscular dystrophy    hemorrhagic fever    cblc    epididymitis

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

    CKM for disorders           About GeneDecksing

    10/15 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)
    About This Section

    PubMed articles for CKM gene, integrated from 9 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. (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 Lucia A....Earnest C.P. (2005)
    3. Muscle creatine kinase isoenzyme expression in adult human brain. (PubMed id 1690725)1, 2, 9 Hamburg R.J.... Perryman M.B. (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. (2009)
    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. (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. (2005)
    7. Crystallization and preliminary X-ray analysis of human muscle creatine kinase. (PubMed id 10089465)1, 2, 9 Tang L.... Lin Z.J. (1999)
    8. Dengue hemorrhagic fever is associated with polymorph isms in JAK1. (PubMed id 20588308)1, 4 Silva L.K....Teixeira M.G. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)

    (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: 1158 HGNC: 1994 AceView: CKM Ensembl:ENSG00000104879 euGenes: HUgn1158
    ECgene: CKM Kegg: 1158 H-InvDB: CKM

    (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 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.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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