Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1158
Gene name Gene Name - the full gene name approved by the HGNC.	Creatine kinase, M-type
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CKM
Synonyms (NCBI Gene) Gene synonyms aliases	CKMM, CPK-M, M-CK
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.32
Summary Summary of gene provided in NCBI Entrez 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

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

Show/Hide all(19)

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

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

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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

MIM	HGNC	e!Ensembl
123310	1994	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

Interactions

View interactions

	KEGG		Reactome
	Arginine and proline metabolism Metabolic pathways Cytoskeleton in muscle cells		Creatine metabolism

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	32792518
Breast Neoplasms	Associate	22647880
Cardiomyopathies	Inhibit	21738806
Chagas Cardiomyopathy	Associate	21738806
COVID 19	Associate	35455962
Endometrial Neoplasms	Associate	32894095
Muscular Atrophy	Associate	19470832, 37864479
Muscular Dystrophy Duchenne	Associate	37864479, 40483507
Myotonic Dystrophy	Associate	1672160, 2002492, 8279459
Osteoporosis	Associate	39884015
Pain Postoperative	Associate	35455962
Parkinson Disease	Associate	38176938
Post Acute COVID 19 Syndrome	Associate	35455962
Prostatic Neoplasms	Associate	38581330
Pulmonary Disease Chronic Obstructive	Associate	37581107
Sarcoma Ewing	Associate	36849756

CKM (creatine kinase, M-type)