CKM (creatine kinase, M-type)

2016-10-01 Affiliation

Identity

HGNC

CKM

LOCATION

19q13.32

LOCUSID

1158

ALIAS

CKMM,CPK-M,M-CK

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1158
MIM: 123310
HGNC: 1994
Ensembl: ENSG00000104879

Variants:

dbSNP: 1158
ClinVar: 1158
TCGA: ENSG00000104879
COSMIC: CKM

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000104879	ENST00000221476	P06732

Expression (GTEx)

5000

10000

15000

20000

25000

30000

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Arginine and proline metabolism	KEGG	ko00330
Arginine and proline metabolism	KEGG	hsa00330
Metabolic pathways	KEGG	hsa01100
Creatine pathway	KEGG	hsa_M00047
Creatine pathway	KEGG	M00047
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Creatine metabolism	REACTOME	R-HSA-71288
Metabolism of polyamines	REACTOME	R-HSA-351202

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
19125286	2009	Changes in serum cartilage oligomeric matrix protein (COMP), plasma CPK and plasma hs-CRP in relation to running distance in a marathon (42.195 km) and an ultra-marathon (200 km) race.	38
17478608	2007	CK-MM and ACE genotypes and physiological prediction of the creatine kinase response to exercise.	25
12972258	2003	Muscle-type creatine kinase interacts with central domains of the M-band proteins myomesin and M-protein.	22
21768101	2011	Muscle creatine kinase deficiency triggers both actin depolymerization and desmin disorganization by advanced glycation end products in dilated cardiomyopathy.	22
18801770	2010	World-class performance in lightweight rowing: is it genetically influenced? A comparison with cyclists, runners and non-athletes.	18
20634891	2010	Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.	18
17303563	2007	The generation of the oxidized form of creatine kinase is a negative regulation on muscle creatine kinase.	17
21426302	2011	Slow skeletal muscle myosin-binding protein-C (MyBPC1) mediates recruitment of muscle-type creatine kinase (CK) to myosin.	16
16087811	2005	Does creatinine kinase-MB elevation after percutaneous coronary intervention predict outcomes in 2005? Periprocedural cardiac enzyme elevation predicts adverse outcomes.	15

Citation

Dessen P

CKM (creatine kinase, M-type)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56513/ckm-(creatine-kinase-m-type)