CHKB (choline kinase beta)

2010-05-01 Affiliation

Identity

HGNC

CHKB

LOCATION

22q13.33

LOCUSID

1120

ALIAS

CHETK,CHKL,CK,CKB,CKEKB,EK,EKB,MDCMC

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: 1120
MIM: 612395
HGNC: 1938
Ensembl: ENSG00000100288

Variants:

dbSNP: 1120
ClinVar: 1120
TCGA: ENSG00000100288
COSMIC: CHKB

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000100288	ENST00000406938	Q9Y259
ENSG00000100288	ENST00000406938	A0A024R4X4

Expression (GTEx)

100

150

200

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
Glycerophospholipid metabolism	KEGG	ko00564
Glycerophospholipid metabolism	KEGG	hsa00564
Metabolic pathways	KEGG	hsa01100
Phosphatidylcholine (PC) biosynthesis, choline => PC	KEGG	hsa_M00090
Phosphatidylethanolamine (PE) biosynthesis, ethanolamine => PE	KEGG	hsa_M00092
Phosphatidylcholine (PC) biosynthesis, choline => PC	KEGG	M00090
Phosphatidylethanolamine (PE) biosynthesis, ethanolamine => PE	KEGG	M00092
Choline metabolism in cancer	KEGG	hsa05231
Choline metabolism in cancer	KEGG	ko05231
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Phospholipid metabolism	REACTOME	R-HSA-1483257
Glycerophospholipid biosynthesis	REACTOME	R-HSA-1483206
Synthesis of PE	REACTOME	R-HSA-1483213
Synthesis of PC	REACTOME	R-HSA-1483191

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
18820697	2008	Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.	40
18820697	2008	Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.	40
19915674	2009	Differential role of human choline kinase alpha and beta enzymes in lipid metabolism: implications in cancer onset and treatment.	39
21665002	2011	A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.	29
20299452	2010	Crystal structures of human choline kinase isoforms in complex with hemicholinium-3: single amino acid near the active site influences inhibitor sensitivity.	14
18996102	2009	Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.	11
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
22177342	2012	TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy.	10
25740612	2015	New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.	8

Citation

Dessen P

CHKB (choline kinase beta)

Atlas Genet Cytogenet Oncol Haematol. 2010-05-01

Online version: http://atlasgeneticsoncology.org/gene/51457/chkb