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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)
  36 related diseases
at
MalaCards
 

Aliases
for CKM gene

(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


Summaries
for CKM gene

(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


Genomic Views
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 plasmid: CKM 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

Proteins
for CKM gene

(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 
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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 

    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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    LSBio Antibodies in human, mouse, rat for CKM 

    Assay Products for CKM: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CKM 
    Cloud-Clone Corp. CLIAs for CKM

    Protein Domains /
    Families
    for CKM gene

    (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


    Function
    for CKM gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, 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:
         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

    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 plasmid: CKM 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CKM
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of CKM
                         Customized adenovirus for potent knockdown of CKM

    Clone
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    OriGene ORF clones in mouse, rat for CKM
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CKM

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


    Pathways & Interactions
    for CKM gene

    (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 some 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



    Drugs & Compounds
    for CKM gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, 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

    Transcripts
    for CKM gene

    (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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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 plasmid: CKM 3' UTR sequence
    Inhib. RNA
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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 

    24/987 AceView cDNA sequences (see all 987):

    BP334221 F31933 F18053 F29376 F30387 F20425 F31171 F31444 
    CA398119 F22796 AJ572902 F29239 F30182 F30046 F30805 AA295833 
    F29176 F16746 F15513 F33674 F33305 F30227 AJ573041 CD612932 

    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

    Expression
    for CKM gene

    (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 
     5/12 selected tissues (see all 12) 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
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    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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    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
    for CKM gene

    (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
    for CKM gene

    (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



    Genomic Variants
    for CKM gene

    (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
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CKM
    DNA2.0 Custom Variant and Variant Library Synthesis for CKM

    Disorders / Diseases
    for CKM gene

    (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
    CKM for disorders           About GeneDecksing

    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

    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

    Publications
    for CKM gene

    (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)

    External Searches for CKM gene

    (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)

    Genome Databases showing CKM gene

    (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

    Other Databases showing CKM gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CKM gene

    (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)

    Intellectual Property
    for 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



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    About This Section

     
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