Free for academic non-profit institutions. Other users need a Commercial license
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
External Ids for CKM Gene
- HGNC: 1994
- Entrez Gene: 1158
- Ensembl: ENSG00000104879
- OMIM: 123310
- UniProtKB: P06732
Previous HGNC Symbols for CKM Gene
- CKMM
Previous GeneCards Identifiers for CKM Gene
- GC19M046454
- GC19M046200
- GC19M050485
- GC19M050501
- GC19M045809
- GC19M042241
Summaries 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.
Additional gene information for CKM Gene
- HGNC(1994)
- Entrez Gene(1158)
- Ensembl(ENSG00000104879)
- OMIM(123310)
- UniProtKB(P06732)
- Open Targets Platform(ENSG00000104879)
- Monarch Initiative
- Search for CKM at DataMed
- Search for CKM at HumanCyc
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
- 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:
-
- 19q13.32 by HGNC
- 19q13.32 by Entrez Gene
- 19q13.32 by Ensembl
CKM Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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
Other Protein References for CKM Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences CKM / Creatine Kinase MM Antibody (LS-B9333) and CKM / Creatine Kinase MM Antibody (LS-B11194)
- G Biosciences Immunotag™ M-CK Antibody
- RayBiotech Rabbit Anti-Human CKM
- NSJ Bioreagents CKM Antibody / Creatine Kinase M
- Creative Diagnostics Anti-CK-MM monoclonal antibody, clone A027-17186
-
Creative Biolabs
- Recombinant Anti-human CKM Antibody
- Recombinant Human Anti-human CKM Antibody
- Mouse Anti-CKM Recombinant Antibody (1E3)
- Mouse Anti-CKM Recombinant Antibody (123125)
- Mouse Anti-CKM Recombinant Antibody (CBYY-C3002)
- Mouse Anti-CKM Recombinant Antibody (5K1)
- Mouse Anti-CKM Recombinant Antibody (5G11)
- Mouse Anti-CKM Recombinant Antibody (M9910207)
- Mouse Anti-CKM Recombinant Antibody (CBXC-2767)
- Mouse Anti-CKM Recombinant Antibody (CBWJC-2748)
- Mouse Anti-CKM Recombinant Antibody (16k74)
-
Custom Antibody ServicesOriGene Antibodies for CKM
- Novus Biologicals Antibodies for CKM
-
Abcam antibodies for CKM
- Invitrogen Antibodies for CKM (AFLGC-CKM)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CKM
- creatine kinase-M/B (CK-10)
- creatine kinase-M/B (BDI937)
- creatine kinase-M/B (CK1)
- creatine kinase-M (MM-2)
- creatine kinase-M (MM)
- creatine kinase-M (MM-25)
- creatine kinase-M (MM-64)
- creatine kinase-M/B (1.BB.105)
- creatine kinase-M (G-9)
- creatine kinase-M (H-9)
- creatine kinase-M (B-1)
- creatine kinase-M (C-4)
- Sino Biological Antibodies for CKM
Protein Products
- RayBiotech Recombinant Human CKM
- Search Origene for MassSpec and Protein Over-expression Lysates for CKM
- Origene Custom Protein Services for CKM
- Sino Biological Recombinant Proteins for CKM
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for CKM
- antibodies-online: Show 50 available CKM Proteins ranked by validation data
- Compare Top CKM Proteins
-
ProSci Proteins for CKM
-
Abcam proteins for CKM
Assay Products
- G Biosciences Immunotag™ Human CKM (Creatine kinase M-type) ELISA
- RayBiotech Human CKMB ELISA
- Novus Biologicals ELISA Kits for CKM
-
Boster Bio ELISA Kits for CKM
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
- InterPro:
- Blocks:
-
- ATP:guanido phosphotransferase
- ProtoNet:
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- Family:
-
- Belongs to the ATP:guanido phosphotransferase family.
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
| 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 | -- |
Phenotypes for CKM Gene
- MGI mutant phenotypes for CKM:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CKM:
-
- no effect
- Decreased viability ratio
- Increased IL-8 secretion
- Decreased viability
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Increased human cytomegalovirus (HCMV) strain AD169 replication
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased viability after borna disease (rVSVΔG*/BDVG) virus infection
- Decreased cell viability after pRB stimulation
- Diffuse trans-Golgi
Animal Models for CKM Gene
- MGI Knock Outs for CKM:
-
- Ckm Ckm<tm1Bew>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CKM - Select products 50% OFF >
- * CKM CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CKM
-
Santa Cruz Biotechnology (SCBT) CRISPR for CKM
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CKM
- Browse OriGene Inhibitory RNA Products For CKM
Clone Products
- Applied Biological Materials (abm): Clones for CKM - Select products 50% OFF >
- * CKM as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CKM
- Addgene plasmids for CKM
Cell Line Products
-
Horizon Cell Lines for CKM
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.
| 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 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | IEA,IBA | 21873635 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CKM Gene
Pathways & Interactions for CKM Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of activated PAK-2p34 by proteasome mediated degradation | ||
| 2 | Metabolism |
.40
|
|
| 3 | Arginine and proline metabolism | ||
| 4 | Abacavir Pathway, Pharmacokinetics/Pharmacodynamics | ||
| 5 | AMPK Enzyme Complex Pathway |
AMPK Enzyme Complex Pathway
-
|
|
Pathways by source for CKM Gene
3 BioSystems pathways for CKM Gene
4 Reactome pathways for CKM Gene
1 PharmGKB pathway for CKM Gene
2 KEGG pathways for CKM Gene
1 Qiagen pathway for CKM Gene
- AMPK Enzyme Complex Pathway
Interacting Proteins for CKM Gene
Selected Interacting proteins:
P06732-KCRM_HUMAN
ENSP00000221476
for CKM Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CKM
| 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 |
No data available for SIGNOR curated interactions for CKM Gene
Drugs & Compounds for CKM Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
Drug Products
- RayBiotech Recombinant Human CKM
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 :
-
- ENST00000221476 1556 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CKM - Select products 50% OFF >
- * CKM CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CKM
-
Santa Cruz Biotechnology (SCBT) CRISPR for CKM
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CKM
- Browse OriGene Inhibitory RNA Products For CKM
Clone Products
- Applied Biological Materials (abm): Clones for CKM - Select products 50% OFF >
- * CKM as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CKM
- Addgene plasmids for CKM
| 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 embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Eye (Sensory Organs)
- Adipose (Muscoskeletal System)
-
Prostate (Endocrine System)
-
Thyroid (Endocrine System)
-
Skeletal Muscle (Muscoskeletal System)
-
Testis (Reproductive System)
-
Esophagus (Gastrointestinal Tract)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CKM
SOURCE GeneReport for Unigene cluster for CKM Gene:
Hs.334347Evidence 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)
Primer Products
-
OriGene qPCR primer pairs for CKM
-
OriGene qPCR primer pairs and template standards for CKM
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CKM 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CKM 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CKM 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CKM 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ckm 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ckm 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | CKM 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CKM 30 |
|
||
| Lizard (Anolis carolinensis) |
Reptilia | CKM 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ckm 30 |
|
||
| MGC75682 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | ckm-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ckmb 31 |
|
OneToMany | |
| ckma 30 31 |
|
OneToMany | |||
| ckm 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG5144 31 32 |
|
ManyToMany | |
| Argk 31 32 |
|
ManyToMany | |||
| CG4546 31 32 |
|
ManyToMany | |||
| CG30274 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | ZC434.8 31 32 |
|
ManyToMany | |
| F44G3.2 31 32 |
|
ManyToMany | |||
| F46H5.3 31 |
|
ManyToMany | |||
| W10C8.5 31 32 |
|
ManyToMany | |||
| F32B5.1 31 32 |
|
ManyToMany | |||
| F11G11.13 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6164 31 |
|
ManyToMany | |
| -- 31 |
|
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
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CKM Gene
Disorders for CKM Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mcleod syndrome |
|
|
| myotonic dystrophy |
|
|
| hemophilia b |
|
|
| myocardial infarction |
|
|
| acute myocardial infarction |
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for CKM Gene
Publications for CKM Gene
- 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
- 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
- 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
- [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
- 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
ExternalLinks
Products for CKM Gene
- View all 4 R&D Systems CKM (Creatine Kinase MM/CKMM) Products
- View all R&D Systems CKM (Creatine Kinase MM/CKMM) Proteins and Enzymes
- View all 2 R&D Systems CKM (Creatine Kinase MM/CKMM) Primary Antibodies
- View all R&D Systems CKM (Creatine Kinase MM/CKMM) cDNA Clones
- Learn more about R&D Systems custom CKM antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for CKM
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for CKM
- Origene Custom Protein Services for CKM
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CKM
- Browse OriGene Inhibitory RNA Products For CKM
- OriGene qPCR primer pairs for CKM
- OriGene qPCR primer pairs and template standards for CKM
- OriGene CRISPR knockouts for CKM
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CKM
- Sino Biological Human cDNA Clone for CKM
- Sino Biological Recombinant Proteins for CKM
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for CKM
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CKM
- Novus Biologicals proteins and lysates for CKM
- Novus Biologicals ELISA Kits for CKM
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for CKM
- Abcam proteins for CKM
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- VectorBuilder Custom and pre-made DNA vectors for CKM (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CKM (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CKM (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CKM CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CKM
- Addgene plasmids for CKM
- antibodies-online: Show 136 available CKM Antibodies ranked by validation data
- Compare Top CKM Antibodies
- antibodies-online: Show 148 available CKM Elisa Kits ranked by validation data
- Compare Top CKM Elisa Kits
- Quality Products:
- antibodies-online: Show 50 available CKM Proteins ranked by validation data
- Compare Top CKM Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for CKM
- creatine kinase-M/B (CK-10)
- creatine kinase-M/B (BDI937)
- creatine kinase-M/B (CK1)
- creatine kinase-M (MM-2)
- creatine kinase-M (MM)
- creatine kinase-M (MM-25)
- creatine kinase-M (MM-64)
- creatine kinase-M/B (1.BB.105)
- creatine kinase-M (G-9)
- creatine kinase-M (H-9)
- creatine kinase-M (B-1)
- creatine kinase-M (C-4)
- Search Santa Cruz Biotechnology (SCBT) for CKM siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CKM
- Search for CKM Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for CKM
- Horizon Cell Lines for CKM
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for knockout CRISPR/Cas9 clones, lentivirus, and/or AAV products for CKM
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles, and/or promoter clone products for CKM
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CKM
- Search GeneCopoeia for shRNA, lentivirus, and/or AAV clone products for CKM
Sources for CKM Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB