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)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36896673 | 2023 | Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene. | 1 |
| 37393748 | 2023 | Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients. | 1 |
| 37634314 | 2023 | Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3 genes in colon cancers. | 0 |
| 36896673 | 2023 | Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene. | 1 |
| 37393748 | 2023 | Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients. | 1 |
| 37634314 | 2023 | Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3 genes in colon cancers. | 0 |
| 33712684 | 2021 | Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. | 5 |
| 33712684 | 2021 | Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. | 5 |
| 31926838 | 2020 | Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients. | 6 |
| 31926838 | 2020 | Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients. | 6 |
| 30986505 | 2019 | Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene. | 5 |
| 30986505 | 2019 | Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene. | 5 |
| 27123443 | 2016 | Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies. | 5 |
| 27149373 | 2016 | Phosphorylation of Human Choline Kinase Beta by Protein Kinase A: Its Impact on Activity and Inhibition. | 7 |
| 27123443 | 2016 | Importance 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
