CHKB (choline kinase beta)

2010-05-01  

Identity

HGNC
CHKB
LOCATION
22q13.33
LOCUSID
1120
ALIAS
CHETK,CHKL,CK,CKB,CKEKB,EK,EKB,MDCMC

Other Information

Locus ID:

NCBI: 1120
MIM: 612395
HGNC: 1938
Ensembl: ENSG00000100288

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100288ENST00000406938Q9Y259
ENSG00000100288ENST00000406938A0A024R4X4

Expression (GTEx)

0
50
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

PathwaySourceExternal ID
Glycerophospholipid metabolismKEGGko00564
Glycerophospholipid metabolismKEGGhsa00564
Metabolic pathwaysKEGGhsa01100
Phosphatidylcholine (PC) biosynthesis, choline => PCKEGGhsa_M00090
Phosphatidylethanolamine (PE) biosynthesis, ethanolamine => PEKEGGhsa_M00092
Phosphatidylcholine (PC) biosynthesis, choline => PCKEGGM00090
Phosphatidylethanolamine (PE) biosynthesis, ethanolamine => PEKEGGM00092
Choline metabolism in cancerKEGGhsa05231
Choline metabolism in cancerKEGGko05231
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PEREACTOMER-HSA-1483213
Synthesis of PCREACTOMER-HSA-1483191

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
368966732023Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.1
373937482023Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients.1
376343142023Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3 genes in colon cancers.0
368966732023Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.1
373937482023Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients.1
376343142023Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3 genes in colon cancers.0
337126842021Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.5
337126842021Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.5
319268382020Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients.6
319268382020Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients.6
309865052019Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.5
309865052019Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.5
271234432016Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.5
271493732016Phosphorylation of Human Choline Kinase Beta by Protein Kinase A: Its Impact on Activity and Inhibition.7
271234432016Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.5

Citation

Dessen P

CHKB (choline kinase beta)

Atlas Genet Cytogenet Oncol Haematol. 2010-05-01

Online version: http://atlasgeneticsoncology.org/gene/51457/chkb-(choline-kinase-beta)