CKM (creatine kinase, M-type)

Gene

• Entrez ID: 1158
• Gene name: Creatine kinase, M-type
• Gene symbol: CKM
• Synonyms (NCBI Gene): CKMM, CPK-M, M-CK
• Chromosome: 19
• Chromosome location: 19q13.32
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs149354459	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT738238	hsa-miR-4314	HITS-CLIP	33718276
MIRT738246	hsa-miR-3943	HITS-CLIP	33718276
MIRT738247	hsa-miR-1225-3p	CLIP-seq
MIRT738234	hsa-miR-1302	CLIP-seq
MIRT894221	hsa-miR-2392	CLIP-seq
MIRT738236	hsa-miR-3192	CLIP-seq
MIRT738242	hsa-miR-3199	CLIP-seq
MIRT738239	hsa-miR-326	CLIP-seq
MIRT738240	hsa-miR-330-5p	CLIP-seq
MIRT894222	hsa-miR-3605-5p	CLIP-seq
MIRT738245	hsa-miR-361-3p	CLIP-seq
MIRT738235	hsa-miR-4298	CLIP-seq
MIRT738241	hsa-miR-4522	CLIP-seq
MIRT894223	hsa-miR-4534	CLIP-seq
MIRT738237	hsa-miR-4646-5p	CLIP-seq
MIRT738243	hsa-miR-4648	CLIP-seq
MIRT738244	hsa-miR-4726-3p	CLIP-seq
MIRT894224	hsa-miR-520a-5p	CLIP-seq
MIRT894225	hsa-miR-525-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
KLF3	Activation	20404088
TP53	Activation	8389468
WT1	Activation	8389468

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004111	Function	Creatine kinase activity	IBA
GO:0004111	Function	Creatine kinase activity	IEA
GO:0004111	Function	Creatine kinase activity	TAS	3778496
GO:0005515	Function	Protein binding	IPI	12972258, 21516116, 25416956, 28514442, 32296183, 32814053, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016772	Function	Transferase activity, transferring phosphorus-containing groups	IEA
GO:0046314	Process	Phosphocreatine biosynthetic process	IBA
GO:0046314	Process	Phosphocreatine biosynthetic process	IEA
GO:0046314	Process	Phosphocreatine biosynthetic process	IEA

Other IDs

• MIM: 123310
• HGNC: 1994
• e!Ensembl: ENSG00000104879

Protein

• UniProt ID: P06732
• Protein name: Creatine kinase M-type (EC 2.7.3.2) (Creatine kinase M chain) (Creatine phosphokinase M-type) (CPK-M) (M-CK)
• Protein 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 skelet
• PDB: 1I0E, 7BF2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02807	ATP-gua_PtransN	24 → 94	ATP:guanido phosphotransferase, N-terminal domain	Domain
  PF00217	ATP-gua_Ptrans	153 → 367	ATP:guanido phosphotransferase, C-terminal catalytic domain	Domain

• Sequence:

  MPFGNTHNKFKLNYKPEEEYPDLSKHNNHMAKVLTLELYKKLRDKETPSGFTVDDVIQTG
  VDNPGHPFIMTVGCVAGDEESYEVFKELFDPIISDRHGGYKPTDKHKTDLNHENLKGGDD
  LDPNYVLSSRVRTGRSIKGYTLPPHCSRGERRAVEKLSVEALNSLTGEFKGKYYPLKSMT
  EKEQQQLIDDHFLFDKPVSPLLLASGMARDWPDARGIWHNDNKSFLVWVNEEDHLRVISM
  EKGGNMKEVFRRFCVGLQKIEEIFKKAGHPFMWNQHLGYVLTCPSNLGTGLRGGVHVKLA
  HLSKHPKFEEILTRLRLQKRGTGGVDTAAVGSVFDVSNADRLGSSEVEQVQLVVDGVKLM
  VEMEKKLEKGQSIDDMIPAQK

• Sequence length: 381

Pathways

KEGG:

Arginine and proline metabolism
Metabolic pathways
Cytoskeleton in muscle cells

Reactome:

Creatine metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY, LEFT VENTRICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR HYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	CTD_human_DG	15966572		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32792518	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22647880	Associate	★☆☆☆☆ Found in Text Mining only
Cardiac Tamponade	Cardiac Tamponade	BEFREE	31088373		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	21738806	Inhibit	★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas cardiomyopathy	Pubtator	21738806	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31772848		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	15059925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30967290		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31010675		★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	BEFREE	31439488		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32894095	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	CTD_human_DG	11406506		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	15059925		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	37864479, 40483507	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	12359538, 3279722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	30320401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	1351033, 1364051, 1840564, 1975560, 1977684, 2037285, 2300239, 2320244, 2591962, 2703233, 8279459		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	1672160, 2002492, 8279459	Associate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	1977684		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	39884015	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	38176938	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	38581330	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37581107	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	36849756	Associate	★☆☆☆☆ Found in Text Mining only