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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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, 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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    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

     
    Search eBioscience for Proteins for CKM 

    CKM Antibody Products:

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    Abcam antibodies for CKM (P06732, P12277)
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CKM
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    Search eBioscience for ELISAs for CKM 


    (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, inGenious Targeting Laboratory, 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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CKM
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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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    3 qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat CKM

    Gene Editing
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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
    Addgene plasmids for CKM 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CKM


    (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 (see all 6)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
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CKM
      QuantiTect SYBR Green Assays in human, mouse, rat CKM
      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):

    BQ941643 AJ573003 F21295 F24524 F15639 F29199 F33674 F25434 
    AL599011 F26757 F28905 F30035 F29802 F30037 F30227 F26050 
    AJ573041 F15513 F27276 F27175 CF552199 F34400 F18094 F22753 
    F15920 F31033 C04711 F28465 AJ572912 F29753 F27215 M16440 
    F28111 CF551995 F28753 C04321 BF126218 F18252 F29854 F31475 
    F15736 F19300 F31990 F22067 F24125 F26899 F26890 BX280458 
    F15831 F15631 BP334221 F31933 F18053 F29376 F30387 F20425 
    F31171 F31444 CA398119 F22796 AJ572902 F29239 F30182 F30046 
    F30805 AA295833 CD612932 F30865 F29176 F36319 F16665 F36374 
    AL599004 F20737 F27971 C05600 C05040 AL598094 F35273 AA346181 
    F36280 F31964 F16746 F31055 F20289 F27388 AL601227 F20544 
    F24170 NM_001824 BX379289 F18082 F25691 F25797 F28206 F22533 
    BM874705 F25856 F18258 CA398120 F33305 F29227 F30006 CR601202 
    C04845 F25730 BI838060 F24227 BF828738 AA192843 F32241 F19299 
    BC007462 F17733 AA112793 AA179247 F28574 F26826 CD612921 F28964 
    AA346292 AA317642 BX499963 F36323 BF790610 F15619 F36269 F28063 
    F19352 F31810 F26858 AJ572936 F33855 CF552868 F33013 F32459 
    CD612926 F29244 N80871 F24321 AL597795 AJ573978 F26649 F00064 
    T66895 F29061 AJ572965 F27061 F35445 AA346226 AJ572975 AA778263 
    F28607 AA111993 F37505 BF790859 F27037 BF837993 AL694109 F35507 
    BT006793 CD612897 F26979 F36095 AA128476 F19355 AA112949 F33696 
    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 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 F18265 AA196364 BQ327364 F20700 CD612930 F36202 F24047 
    F32000 F18997 AL598846 F37377 F23345 F33840 F26987 F29654 
    F25068 AA196120 F28149 F27126 C04070 CD612900 F27111 F32150 
    AJ573012 AA321919 F28118 F28848 T28699 F34745 F31631 F32609 
    F26019 F24122 BX503012 AA345796 AJ572380 F24251 F37114 F21850 
    C04866 F25957 F30550 AA197239 AA346038 C05531 F30000 AA478924 
    BF673021 F26991 CF551853 CD612927 F27868 F26760 F24341 F33340 
    F36196 F34090 AJ572985 F19287 F15987 F26514 AJ573063 F19383 
    BQ960378 AA176743 F32337 C03055 C05434 F30658 F21815 BF574616 
    F33026 F22717 AA192277 F27703 BF694839 F24208 BM450483 CD612922 
    BF576743 F32160 F30436 CD612899 F28091 BV205119 BX502560 F33349 
    AL695050 CD612893 F19631 C05161 F33361 F24463 C04020 BF790538 
    BF126099 F33593 F24743 AA196019 F31256 F22716 AJ572992 BP335010 
    BF672090 F33858 F32942 AI090503 F33125 F20200 AL598560 F28196 
    F31252 C05416 F35023 F27670 F33708 AA346248 F33233 F34381 
    F19361 F25327 BI827111 AJ710991 F22427 CF552932 F21329 F28830 
    F35094 AA176850 F35840 F28912 BF576277 F33360 BF671612 CF552732 
    F25236 F19406 F34673 AJ572058 AJ707932 AJ572979 F27086 F24467 
    F28584 F17745 AJ708459 AA197163 AJ708058 F29255 CD612931 AA478804 
    F33162 AA086327 BF673038 CA390685 R57936 F24384 F17908 CD612915 
    AA346224 F35255 AA192899 AA086421 F22440 BF574667 AL695151 AA100433 
    T66871 AA192228 F37576 F26920 F25258 F16109 F25362 F35879 
    BF692925 F34199 F26020 F00544 F16297 F27097 F32596 F33879 
    C05325 F19016 F33662 F31979 AA025714 F19358 F16147 AJ573231 
    BF840531 CD612916 F24082 AA193208 T11926 AA196653 F23359 F26303 
    C04088 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 CD612914 BF576701 
    BF825640 BQ327362 F34187 F24075 F34916 AA086448 AA482944 F35220 
    F25705 F21232 F17153 AA196642 F25577 R57855 F32376 F36144 
    F27819 BF671505 AJ573028 BF790602 AA196032 BF671988 F00063 CD612905 
    AA112826 F37031 AJ571825 AA214139 F26278 F33565 CD612912 AA197130 
    F33374 F37207 F33008 F35116 BF574783 F20382 AA086313 F35929 
    F32924 F17888 F22326 AA192226 F31734 CD612898 F34774 F20698 
    F16122 BX502020 AI370852 F32660 AA196571 F35424 F33356 AA195969 
    AJ710543 BF576902 F28083 CD612911 BF126251 BX500039 AW984091 BF576327 
    F19613 CD612923 F26495 F24568 AA111913 CD612894 BF670657 F22108 
    AA179112 F27604 F36099 F32769 F26783 BF575533 C05338 F29510 
    F33010 BF672956 C04977 BF575414 BF574808 F21572 F26997 F25961 
    F32714 AA179027 CD612929 F29600 F33529 F01097 BF574963 F25975 
    C05320 F36022 BF840529 F26674 F01081 F34281 AA085819 BF789876 
    F00509 F32590 C04158 F19618 F28213 F30970 F21198 BF673124 
    AA086426 AI246425 F25343 BF825637 AA243705 F32961 F22452 F31740 
    CD612928 F20497 F27493 AJ572490 F32422 AA346031 F25452 F37467 
    F29596 BF574218 F28553 BF770930 F22155 F20236 F37660 AA192310 
    C03023 AA086420 AA194342 F33072 AI192691 BF789870 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 F35397 
    F33352 AI193581 F34879 F22230 AA346060 AA197158 F25074 AA196846 
    F32085 F35281 BF671277 BF693033 F25398 C04155 F33294 F19677 
    F28278 AA011006 AA112832 F37499 AJ710554 AA178904 BF790232 F21657 
    F00898 F34847 CD612902 F01275 AJ709811 AJ572983 F35316 F24061 
    BF576576 F33390 AA701473 F33583 BF670665 BF575857 C03963 F25888 
    AA179111 CD612918 AJ573886 F16171 AA197131 F29388 AA197250 F29785 
    F33847 AA314046 AA196547 AA192710 AA195962 BX379288 F37893 AA977460 
    W04731 CD612919 F00667 AA178866 F01269 AJ710542 F33092 AA192575 
    AA192328 AJ346330 BF770927 AW449250 F27464 F32659 BF825628 F27914 
    AA178921 BF790314 F32931 AW950722 C02780 F33129 BF827950 F27253 
    CD612901 F00616 F29284 AA196021 T11640 F24456 F32417 F27918 
    AJ574115 F22126 AA099639 AA086376 F33180 AA086352 AA100320 BF825612 
    AA176949 BF827504 F35087 F30905 AA112790 C03406 AI264868 F26329 
    AA112810 C03389 BF672738 BF574917 AJ572688 BF825330 AA196065 AA112731 
    AA179122 AA193246 BF670793 F00563 C03543 F26914 F22755 F29080 
    F35091 AA176673 AA093767 F19629 F29494 F37926 AA193547 F18848 
    AA182851 AA112721 F33922 F28037 AA086249 F28984 BF575942 AA196113 
    AA442525 AA216193 F36209 AA194460 BF825636 AJ572837 AA194449 AA196366 
    AJ572997 AA093112 AA176838 AA214010 F19449 C02700 T19650 CD612933 
    CD612907 BF825644 AA086453 AI183675 F25062 F34055 C04266 F01305 
    BF693206 AA197207 AA086244 R57025 AA180980 BF789878 AA179819 AA192812 
    AA178919 F35144 BF836257 F24178 C02718 AA176427 F32812 F28603 
    AA194375 F24017 F25480 F34852 BF770915 F24018 F29276 F36425 
    AI292300 C03536 AA448333 AA192264 CD612908 AA193010 C03079 AA099769 
    AI016302 BF575922 F22784 AA211749 BF575016 BE968852 AA181469 AA113000 
    F32454 AA197077 AI278015 AA179972 AA192845 F01290 C02640 BF825627 
    AA192585 BF769618 CD612909 AA192922 F17203 AA179056 AA112732 BF694409 
    AA196847 BF843371 AA176349 AA193009 AA178978 BF825633 AA213955 AA192615 
    C05317 AA196534 CD612924 AA181375 AA196097 F25122 C03730 AA180464 
    W07604 AA180803 BQ327369 AU099591 AA086303 BF825639 BG990872 F27479 
    AA197249 BF670751 AA179894 AJ572968 N86694 F30736 F32015 AA196681 
    T66896 AA194783 C03123 AA192319 AA193072 BQ327702 AI193243 CD612896 
    BG991741 AA214018 BF838919 BF791044 BF695155 CD612917 AA182902 AA196581 
    AA085814 BF671253 AA102243 BM706602 CD612895 F36308 AA100565 AA112948 
    CD612910 AA196868 AA196089 

    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)
    About This Section

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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

    Primer
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    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

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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)
    About This Section

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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)
    About This Section

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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)
    About This Section

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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.)
    About This Section

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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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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