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

CKMT2 Gene

protein-coding   GIFtS: 66
GCID: GC05P080564

Creatine Kinase, Mitochondrial 2 (Sarcomeric)

  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, Mitochondrial 2 (Sarcomeric)1 2     SMTCK2
Basic-Type Mitochondrial Creatine Kinase2 3     Creatine Kinase S-Type, Mitochondrial2
Sarcomeric Mitochondrial Creatine Kinase2 3     mib-CK2
S-MtCK2 3     Mib-CK3
EC 2.7.3.23 8     EC 2.7.38

External Ids:    HGNC: 19961   Entrez Gene: 11602   Ensembl: ENSG000001317307   OMIM: 1232955   UniProtKB: P175403   

Export aliases for CKMT2 gene to outside databases

Previous GC identifers: GC05P079351 GC05P080767 GC05P080567 GC05P080613 GC05P075738


(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 CKMT2 Gene:
Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to
the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes,
sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two
different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase
isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous
mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among
some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of
these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found
for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for CKMT2 Gene: 
CKMT2 (creatine kinase, mitochondrial 2 (sarcomeric)) is a protein-coding gene. Diseases associated with CKMT2 include prostate rhabdomyosarcoma, and myopathy, 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: KCRS_HUMAN, P17540
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 CKMT2 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_000005.9  NT_006713.15  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CKMT2 gene promoter:
         p53   GATA-3   AP-1   AML1a   Sp1   Lmo2   Nkx2-5   GATA-2   GATA-1   Pax-3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCKMT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CKMT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CKMT2


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

Entrez Gene cytogenetic band: 5q13.3   Ensembl cytogenetic band:  5q14.1   HGNC cytogenetic band: 5q14.1

CKMT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CKMT2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P080564:  view genomic region     (about GC identifiers)

Start:
80,529,104 bp from pter      End:
80,562,217 bp from pter
Size:
33,114 bases      Orientation:
plus 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: KCRS_HUMAN, P17540 (See protein sequence)
Recommended Name: Creatine kinase S-type, mitochondrial precursor  
Size: 419 amino acids; 47504 Da
Subunit: Exists as an octamer composed of four CKMT2 homodimers
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side
Miscellaneous: Mitochondrial creatine kinase binds cardiolipin
1 PDB 3D structure from and Proteopedia for CKMT2:
2GL6 (3D)    
Secondary accessions: Q6ICS8 Q8N1E1

Explore the universe of human proteins at neXtProt for CKMT2: NX_P17540

Explore proteomics data for CKMT2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P17540

  • 4/26 DME Specific Peptides for CKMT2 (P17540) (see all 26)
     CPSNLGT  FADLFDP  NERLGYI  SEVELVQ 

    CKMT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CKMT2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001093205.1  NP_001093206.1  NP_001816.2  

    ENSEMBL proteins: 
     ENSP00000254035   ENSP00000423264   ENSP00000404203   ENSP00000427635   ENSP00000410289  
    Reactome Protein details: P17540
    Human Recombinant Protein Products for CKMT2: 
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    Cloud-Clone Corp. Proteins for CKMT2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS2324105
    GO:0005743mitochondrial inner membrane TAS--

    CKMT2 for ontologies           About GeneDecksing



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    (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 P17540

    ProtoNet protein and cluster: P17540

    1 Blocks protein domain: IPB000749 ATP:guanido phosphotransferase

    UniProtKB/Swiss-Prot: KCRS_HUMAN, P17540
    Similarity: Belongs to the ATP:guanido phosphotransferase family
    Similarity: Contains 1 phosphagen kinase C-terminal domain
    Similarity: Contains 1 phosphagen kinase N-terminal domain


    CKMT2 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: KCRS_HUMAN, P17540
    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 CKMT2:
    creatine kinase,mitochondrial 2 (sarcomeric)

         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 ----
         
    CKMT2 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ckmt2):
     cardiovascular system  growth/size  muscle 

    CKMT2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ckmt2tm1Bew for CKMT2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CKMT2 
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    (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 CKMT2 About                                                                                                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
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CKMT2
        creatine-phosphate biosynthesis


    3        Reactome Pathways for CKMT2
        Creatine metabolism
    Metabolism
    Metabolism of amino acids and derivatives


    2         Kegg Pathways  (Kegg details for CKMT2):
        Arginine and proline metabolism
    Metabolic pathways


    CKMT2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CKMT2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/9 Interacting proteins for CKMT2 (P175402, 3 ENSP000002540354) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OLFML3Q9NRN52, 3MINT-63516 I2D: score=5 
    UNC119Q134322, 3MINT-63515 I2D: score=5 
    LRIF1Q5T3J32, 3MINT-63517 I2D: score=4 
    PSMD4P550363I2D: score=1 
    RIF1Q5UIP03I2D: score=1 
    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:0006936muscle contraction TAS2324105
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    CKMT2 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

    CKMT2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CKMT2 (KCRS)

    4 HMDB Compounds for CKMT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Creatine((amino(imino)methyl)(methyl)amino)acetate (see all 17)57-00-1--
    PhosphocreatineCreatine phosphate (see all 15)67-07-2--

    1 DrugBank Compound for CKMT2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Creatine(alpha-Methylguanido)acetic acid (see all 6)57-00-1targetligand8399219 10567223 17139284 17016423 9642223 1731757

    5 Novoseek inferred chemical compound relationships for CKMT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiolipin 72.9 3 11768757 (1), 15044463 (1)
    creatinine 69.6 48 10462222 (4), 9312135 (2), 17935690 (2), 8276398 (2) (see all 21)
    peroxynitrite 37.7 7 12401781 (3), 9642223 (1)
    atp 28.1 3 10462222 (1), 11154064 (1)
    phospholipid 14.9 2 11154064 (1), 15044463 (1)

    Search CenterWatch for drugs/clinical trials and news about CKMT2 / KCRS

    (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 CKMT2 gene (3 alternative transcripts): 
    NM_001099735.1  NM_001099736.1  NM_001825.2  

    Unigene Cluster for CKMT2:

    Creatine kinase, mitochondrial 2 (sarcomeric)
    Hs.80691  [show with all ESTs]
    Unigene Representative Sequence: NM_001825
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254035(uc003khd.4) ENST00000511719 ENST00000513094 ENST00000515615
    ENST00000424301(uc003khc.4) ENST00000505060 ENST00000515238 ENST00000505704
    ENST00000505135 ENST00000514086 ENST00000505850 ENST00000437669(uc010jaq.3)

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    Additional mRNA sequence: 

    AK122769.1 AK130230.1 AK313293.1 BC029140.1 CR450315.1 J05401.1 

    10 DOTS entries:

    DT.91663486  DT.116185  DT.40117024  DT.100759472  DT.97810100  DT.100776056  DT.91796976  DT.86852820 
    DT.95322980  DT.95368579 

    24/102 AceView cDNA sequences (see all 102):

    AJ709067 CR450315 F26207 AA634512 BI835512 AK122769 F31576 AK130230 
    AI052385 F27266 CB046401 W31846 AW243349 AI266454 BC029140 BX500049 
    AJ711094 F20506 AA972407 AI928368 BF790521 AA179145 AL565104 CF457374 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CKMT2 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                          -                       -                                             
    SP2:              -           -                       -                                             
    SP3:              -           -     -                 -                                             
    SP4:              -           -                       -                                             
    SP5:              -           -                                                                     


    ECgene alternative splicing isoforms for CKMT2

    (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

    CKMT2 expression in normal human tissues (normalized intensities)      CKMT2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGAATGAGC
    CKMT2 Expression
    About this image


    CKMT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Oral Cavity (Gastrointestinal Tract)
             Tongue   
     
     Heart (Cardiovascular System)
     
     Kidney (Urinary System)
     
     Skeletal Muscle (Muscoskeletal System)

    See CKMT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CKMT2

    SOURCE GeneReport for Unigene cluster: Hs.80691

    UniProtKB/Swiss-Prot: KCRS_HUMAN, P17540
    Tissue specificity: Sarcomere-specific. Found only in heart and skeletal muscles

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

    This gene was present in the common ancestor of animals.

    Orthologs for CKMT2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ckmt21 , 5 creatine kinase, mitochondrial 21, 5 88.86(n)1
    95.94(a)1
      13 (47.43 cM)5
    767221  NM_198415.21  NP_940807.11 
     918533875 
    chicken
    (Gallus gallus)
    Aves CKMT21 creatine kinase, mitochondrial 2 (sarcomeric) 78.12(n)
    87.11(a)
      396508  NM_001167744.1  NP_001161216.1 
    lizard
    (Anolis carolinensis)
    Reptilia CKMT26
    creatine kinase, mitochondrial 2 (sarcomeric)
    86(a)
    1 ↔ 1
    2(17440355-17478109)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc730592 hypothetical protein MGC73059 78.65(n)   393670  BC059437.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG51443 arginine kinase 40(a)
    (best of 3)
      66F2   --
    worm
    (Caenorhabditis elegans)
    Secernentea F32B5.13 phosphotransferase 39(a)
    (best of 4)
      I(2700421-2702083)   --


    ENSEMBL Gene Tree for CKMT2 (if available)
    TreeFam Gene Tree for CKMT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CKMT2 gene
    CKB2  CKM2  CKMT1B2  CKMT1A2  
    4 SIMAP similar genes for CKMT2 using alignment to 3 protein entries:     KCRS_HUMAN (see all proteins):
    CKM    CKMT1A    CKMT1B    CKB

    CKMT2 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

    10/118 SNPs in CKMT2 are shown (see all 118)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1467945611,2
    --80527195(+) TTCTAC/TGAAGT 3 -- us2k10--------
    rs1122452141,2
    F--80527324(+) GGAACC/GCAGGT 3 -- us2k12Minor allele frequency- G:0.05CSA WA 119
    rs37769801,2
    C,F,H--80527477(+) TGATAT/CGGCAG 3 -- us2k131Minor allele frequency- C:0.17NS EA NA WA CSA 3082
    rs1841752711,2
    --80527610(+) TGACAA/GGGATG 3 -- us2k10--------
    rs1489208001,2
    --80527670(+) TAGAGA/CTTTCA 3 -- us2k10--------
    rs1437300661,2
    C--80527757(+) ACAATA/GACCCA 3 -- us2k10--------
    rs771069371,2
    F--80527864(+) AATTGG/CGGAGG 3 -- us2k11Minor allele frequency- C:0.04WA 118
    rs1875289501,2
    --80528093(+) TGGGTC/GTTGAC 3 -- us2k10--------
    rs47038271,2
    C,F,H--80528135(+) GTCCCA/CATCTT 3 -- us2k118Minor allele frequency- C:0.17NS EA WA NA CSA 2220
    rs1157072381,2
    C,F--80528255(+) GGGTCG/ATGTTT 3 -- us2k11Minor allele frequency- A:0.02WA 118

    HapMap Linkage Disequilibrium report for CKMT2 (80529104 - 80562217 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CKMT2: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CKMT2
    DNA2.0 Custom Variant and Variant Library Synthesis for CKMT2

    (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: 123295    OMIM disorders: --

    9 diseases for CKMT2:    About MalaCards
    prostate rhabdomyosarcoma    myopathy    acute myeloid leukemia    rhabdomyosarcoma
    myeloid leukemia    myocardial infarction    sarcoma    leukemia
    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for CKMT2:
    Myocardial infarction     Prostate rhabdomyosarcoma

    CKMT2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for CKMT2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mitochondrial myopathies 57.3 3 11317279 (1), 7808456 (1)

    Genetic Association Database (GAD): CKMT2
    Human Genome Epidemiology (HuGE) Navigator: CKMT2 (1 document)

    Export disorders for CKMT2 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 CKMT2 gene, integrated from 9 sources (see all 45):
    (articles sorted by number of sources associating them with CKMT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Separate nuclear genes encode sarcomere-specific and ubiquitous human mitochondrial creatine kinase isoenzymes. (PubMed id 2324105)1, 2, 3 Haas R.C. and Strauss A.W. (1990)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Isolation and characterization of the gene and cDNA encoding human mitochondrial creatine kinase. (PubMed id 2914937)1, 2 Haas R.C....Strauss A.W. (1989)
    5. Elements regulating cardiomyocyte expression of the human sarcomeric mitochondrial creatine kinase gene in transgenic mice. (PubMed id 9312135)1, 9 Qin W....Strauss A.W. (1997)
    6. Differential effects of peroxynitrite on human mitochondrial creatine kinase isoenzymes. Inactivation, octamer destabilization, and identification of involved residues. (PubMed id 12401781)1, 9 Wendt S....Wallimann T. (2003)
    7. C-terminal lysines determine phospholipid interaction of sarcomeric mitochondrial creatine kinase. (PubMed id 15044463)1, 9 Schlattner U....Wallimann T. (2004)
    8. Oxidative myocytes of heart and skeletal muscle express abundant sarcomeric mitochondrial creatine kinase. (PubMed id 10462222)1, 9 Qin W....Strauss A.W. (1999)
    9. Expression of the mitochondrial creatine kinase genes. (PubMed id 7808456)1, 9 Payne R.M. and Strauss A.W. (1994)
    10. The gene for creatine kinase, mitochondrial 2 (sarcomeric; CKMT2), maps to chromosome 5q13.3. (PubMed id 8276398)1, 9 Richard I....Beckmann J.S. (1993)

    (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: 1160 HGNC: 1996 AceView: CKMT2 Ensembl:ENSG00000131730 euGenes: HUgn1160
    ECgene: CKMT2 Kegg: 1160 H-InvDB: CKMT2

    (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 CKMT2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CKMT2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CKMT2 gene:
    Search GeneIP for patents involving CKMT2

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



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