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 si... See more...

Aliases for CKM Gene

Aliases for CKM Gene

  • Creatine Kinase, M-Type 2 3 5
  • Creatine Phosphokinase M-Type 3 4
  • Creatine Kinase, Muscle 2 3
  • Creatine Kinase M Chain 3 4
  • Creatine Kinase M-Type 3 4
  • EC 2.7.3.2 4 51
  • CPK-M 3 4
  • CKMM 3 4
  • M-CK 3 4
  • EC 2.7.3 51
  • CKM 5

External Ids for CKM Gene

Previous HGNC Symbols for CKM Gene

  • CKMM

Previous GeneCards Identifiers for CKM Gene

  • GC19M046454
  • GC19M046200
  • GC19M050485
  • GC19M050501
  • GC19M045809
  • GC19M042241

Summaries for CKM Gene

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, M-Type) is a Protein Coding gene. Diseases associated with CKM include Mcleod Syndrome and Myotonic Dystrophy. Among its related pathways are Abacavir Pathway, Pharmacokinetics/Pharmacodynamics and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and creatine kinase activity. An important paralog of this gene is CKB.

UniProtKB/Swiss-Prot Summary for CKM Gene

  • 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CKM Gene

Genomics for CKM Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CKM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J045320 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 610.8 +0.2 226 4.7 ZBTB33 KDM1A ZIC2 PKNOX1 PATZ1 EGR1 HDAC2 ESRRA POLR2A ZNF623 CKM KLC3 MARK4 ERCC2 DMPK RTN2 PPM1N POLR1G RF00017-3004 EXOC3L2
GH19J045133 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.4 +186.1 186074 6.4 SP1 POLR2A BACH1 ZNF143 RELA TCF12 IKZF2 TRIM22 EED SIN3A ENSG00000267044 DMPK PPP1R37 RELB CKM CLASRP NKPD1 piR-53819-005 MARK4
GH19J045231 Promoter/Enhancer 0.7 EPDnew Ensembl ENCODE 11.1 +90.8 90791 1.2 EXOC3L2 CKM ERCC2 POLR1G PPP1R13L RELB CLASRP LOC100420902 lnc-BLOC1S3-1 TRAPPC6A
GH19J045344 Enhancer 0.5 Ensembl 12.2 -22.2 -22226 0.6 ZFHX2 ZNF687 ZNF184 KLF1 MNT ERCC2 KLC3 CKM POLR1G PPP1R13L EXOC3L2 ENSG00000268460 lnc-MARK4-2 lnc-ERCC2-1
GH19J045326 Enhancer 1.1 ENCODE dbSUPER 0.7 -3.5 -3501 0.6 SP1 PRDM10 SIX5 KDM1A RCOR2 FOS MTA2 ZNF143 ZIC2 PKNOX1 IRF2BP1 ZNF180 ZNF112 CEACAM19 ZNF285 SNRPD2 ENSG00000267114 CCDC61 ERCC2 CKM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CKM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CKM

Top Transcription factor binding sites by QIAGEN in the CKM gene promoter:
  • Arnt
  • MyoD
  • Pax-4a
  • Roaz
  • USF-1
  • USF1

Genomic Locations for CKM Gene

Genomic Locations for CKM Gene
chr19:45,306,413-45,322,875
(GRCh38/hg38)
Size:
16,463 bases
Orientation:
Minus strand
chr19:45,809,671-45,826,235
(GRCh37/hg19)
Size:
16,565 bases
Orientation:
Minus strand

Genomic View for CKM Gene

Genes around CKM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CKM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CKM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CKM Gene

Proteins for CKM Gene

  • Protein details for CKM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06732-KCRM_HUMAN
    Recommended name:
    Creatine kinase M-type
    Protein Accession:
    P06732
    Secondary Accessions:
    • Q96QL9

    Protein attributes for CKM Gene

    Size:
    381 amino acids
    Molecular mass:
    43101 Da
    Quaternary structure:
    • Dimer of identical or non-identical chains, which can be either B (brain type) or M (muscle type). With MM being the major form in skeletal muscle and myocardium, MB existing in myocardium, and BB existing in many tissues, especially brain.

    Three dimensional structures from OCA and Proteopedia for CKM Gene

neXtProt entry for CKM Gene

Selected DME Specific Peptides for CKM Gene

P06732:
  • DNPGHPFI
  • KIEEIFKKAGHPFMW
  • RLQKRGTGGVDT
  • VAGDEESY
  • DRLGSSEV
  • KGGNMKEVFRRFCVGL
  • RVISMEK
  • LIDDHFLFDKPVSPLL
  • DARGIWHN
  • GGDDLDP
  • NEEDHLR
  • DRHGGYKP
  • VVDGVKLMVEMEK
  • GMARDWPDARGIWHN
  • FLVWVNEEDH
  • QQQLIDDHFLF
  • HNNHMAK
  • DARGIWHNDNK
  • DDVIQTGVDNPGHP
  • NEEDHLRVI
  • CPSNLGT
  • LTCPSNLGTGLR
  • AGDEESY
  • PDLSKHNN
  • LPPHCSRGERR
  • YVLSSRVRTGRSI

Post-translational modifications for CKM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CKM Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for CKM Gene

Gene Families for CKM Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CKM Gene

Suggested Antigen Peptide Sequences for CKM Gene

GenScript: Design optimal peptide antigens:
  • M-CK (KCRM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P06732

UniProtKB/Swiss-Prot:

KCRM_HUMAN :
  • Belongs to the ATP:guanido phosphotransferase family.
Family:
  • Belongs to the ATP:guanido phosphotransferase family.
genes like me logo Genes that share domains with CKM: view

Function for CKM Gene

Molecular function for CKM Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + creatine = ADP + H(+) + N-phosphocreatine; Xref=Rhea:RHEA:17157, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57947, ChEBI:CHEBI:58092, ChEBI:CHEBI:456216; EC=2.7.3.2; Evidence={ECO:0000255|PROSITE-ProRule:PRU10029};.
GENATLAS Biochemistry:
creatine kinase,muscle

Enzyme Numbers (IUBMB) for CKM Gene

Phenotypes From GWAS Catalog for CKM Gene

Gene Ontology (GO) - Molecular Function for CKM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004111 creatine kinase activity TAS,IBA 21873635
GO:0005515 protein binding IPI 12972258
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CKM: view
genes like me logo Genes that share phenotypes with CKM: view

Animal Models for CKM Gene

MGI Knock Outs for CKM:
  • Ckm Ckm<tm1Bew>

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CKM Gene

Localization for CKM Gene

Subcellular locations from UniProtKB/Swiss-Prot for CKM Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CKM gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CKM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA,IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CKM: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CKM Gene

Pathways & Interactions for CKM Gene

genes like me logo Genes that share pathways with CKM: view

Pathways by source for CKM Gene

Gene Ontology (GO) - Biological Process for CKM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006600 creatine metabolic process TAS --
GO:0016310 phosphorylation IEA --
GO:0046314 phosphocreatine biosynthetic process IBA 21873635
genes like me logo Genes that share ontologies with CKM: view

No data available for SIGNOR curated interactions for CKM Gene

Drugs & Compounds for CKM Gene

(18) Drugs for CKM Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Creatine Approved, Investigational Nutra Target, ligand 176
Acyclovir Approved Pharma Enzyme, substrate 117
Tenofovir disoproxil Approved, Investigational Pharma Enzyme, substrate, inducer 0
(Diaminomethyl-Methyl-Amino)-Acetic Acid Experimental Pharma Target 0
D-Arginine Experimental Pharma Target 0

(11) Additional Compounds for CKM Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with CKM: view

Transcripts for CKM Gene

mRNA/cDNA for CKM Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for CKM Gene

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

Relevant External Links for CKM Gene

GeneLoc Exon Structure for
CKM

Expression for CKM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CKM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CKM Gene

This gene is overexpressed in Muscle - Skeletal (x41.3) and Heart - Left Ventricle (x6.9).

Protein differential expression in normal tissues from HIPED for CKM Gene

This gene is overexpressed in Tonsil (41.3), Heart (14.2), and Oral epithelium (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CKM Gene



Protein tissue co-expression partners for CKM Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CKM

SOURCE GeneReport for Unigene cluster for CKM Gene:

Hs.334347

Evidence on tissue expression from TISSUES for CKM Gene

  • Heart(5)
  • Muscle(5)
  • Nervous system(4.6)
  • Liver(4.5)
  • Thyroid gland(3.1)
  • Stomach(2.8)
  • Blood(2.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with CKM: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CKM Gene

Orthologs for CKM Gene

This gene was present in the common ancestor of animals.

Orthologs for CKM Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CKM 30 31
  • 99.39 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CKM 31
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CKM 30 31
  • 91.95 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CKM 30 31
  • 91.6 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ckm 30 17 31
  • 90.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ckm 30
  • 89.5 (n)
Oppossum
(Monodelphis domestica)
Mammalia CKM 31
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CKM 30
  • 81.45 (n)
Lizard
(Anolis carolinensis)
Reptilia CKM 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ckm 30
  • 78.92 (n)
MGC75682 30
African clawed frog
(Xenopus laevis)
Amphibia ckm-prov 30
Zebrafish
(Danio rerio)
Actinopterygii ckmb 31
  • 85 (a)
OneToMany
ckma 30 31
  • 80.66 (n)
OneToMany
ckm 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG5144 31 32
  • 36 (a)
ManyToMany
Argk 31 32
  • 27 (a)
ManyToMany
CG4546 31 32
  • 26 (a)
ManyToMany
CG30274 31
  • 18 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea ZC434.8 31 32
  • 40 (a)
ManyToMany
F44G3.2 31 32
  • 37 (a)
ManyToMany
F46H5.3 31
  • 37 (a)
ManyToMany
W10C8.5 31 32
  • 36 (a)
ManyToMany
F32B5.1 31 32
  • 34 (a)
ManyToMany
F11G11.13 31
  • 32 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6164 31
  • 68 (a)
ManyToMany
-- 31
  • 66 (a)
ManyToMany
Species where no ortholog for CKM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CKM Gene

ENSEMBL:
Gene Tree for CKM (if available)
TreeFam:
Gene Tree for CKM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CKM: view image

Paralogs for CKM Gene

Paralogs for CKM Gene

(4) SIMAP similar genes for CKM Gene using alignment to 1 proteins:

  • KCRM_HUMAN
genes like me logo Genes that share paralogs with CKM: view

Variants for CKM Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CKM Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
710253 Conflicting Interpretations: not provided 45,308,434(-) C/G MISSENSE_VARIANT
721646 Benign: not provided 45,315,606(-) C/T INTRON_VARIANT
784717 Likely Benign: not provided 45,306,752(-) A/G STOP_LOST
808597 Uncertain Significance: not provided 45,315,567(-) G/C MISSENSE_VARIANT
rs11559024 - p.Glu83Gly

Additional dbSNP identifiers (rs#s) for CKM Gene

Structural Variations from Database of Genomic Variants (DGV) for CKM Gene

Variant ID Type Subtype PubMed ID
esv2660204 CNV deletion 23128226
nsv1063547 CNV gain 25217958
nsv579866 CNV gain 21841781
nsv833844 CNV loss 17160897
nsv833845 CNV loss 17160897

Variation tolerance for CKM Gene

Residual Variation Intolerance Score: 27.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.57; 30.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CKM Gene

Human Gene Mutation Database (HGMD)
CKM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CKM

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CKM Gene

Disorders for CKM Gene

MalaCards: The human disease database

(15) MalaCards diseases for CKM Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mcleod syndrome
  • mclds
myotonic dystrophy
  • myotonic dystrophy 1
hemophilia b
  • hemb
myocardial infarction
  • myocardial infarction, susceptibility to
acute myocardial infarction
- elite association - COSMIC cancer census association via MalaCards
Search CKM in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CKM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CKM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CKM Gene

Publications for CKM Gene

  1. Muscle-specific creatine kinase gene polymorphism and running economy responses to an 18-week 5000-m training programme. (PMID: 17000714) Zhou DQ … Wen L (British journal of sports medicine 2006) 3 23 26 41
  2. Does the polygenic profile determine the potential for becoming a world-class athlete? Insights from the sport of rowing. (PMID: 19422651) Santiago C … Lucia A (Scandinavian journal of medicine & science in sports 2010) 3 23 41
  3. Is there an association between ACE and CKMM polymorphisms and cycling performance status during 3-week races? (PMID: 16037885) Lucía A … Earnest CP (International journal of sports medicine 2005) 3 23 41
  4. [An A/G polymorphism in muscle-specific creatine kinase gene in Han population in Northern China]. (PMID: 16120572) Zhou DQ … Gong L (Yi chuan = Hereditas 2005) 3 23 41
  5. The caregene study: muscle-specific creatine kinase gene and aerobic power in coronary artery disease. (PMID: 16079652) Defoor J … Vanhees L (European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology, Working Groups on Epidemiology & Prevention and Cardiac Rehabilitation and Exercise Physiology 2005) 3 23 41

Products for CKM Gene

Sources for CKM Gene