Identity
HGNC
LOCATION
17p13.1
LOCUSID
ALIAS
ACHRB,CHRNB,CMS1D,CMS2A,CMS2C,SCCMS
FUSION GENES
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: 1140
MIM: 100710
HGNC: 1961
Ensembl: ENSG00000170175
Variants:
dbSNP: 1140
ClinVar: 1140
TCGA: ENSG00000170175
COSMIC: CHRNB1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Neuroactive ligand-receptor interaction | KEGG | ko04080 |
| Neuroactive ligand-receptor interaction | KEGG | hsa04080 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35969799 | 2022 | Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis. | 1 |
| 35969799 | 2022 | Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis. | 1 |
| 33296147 | 2021 | CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum. | 3 |
| 33296147 | 2021 | CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum. | 3 |
| 28153524 | 2017 | Cellular protein and mRNA expression of β1 nicotinic acetylcholine receptor (nAChR) subunit in brain, skeletal muscle and placenta. | 6 |
| 28153524 | 2017 | Cellular protein and mRNA expression of β1 nicotinic acetylcholine receptor (nAChR) subunit in brain, skeletal muscle and placenta. | 6 |
| 27375219 | 2016 | Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. | 12 |
| 27375219 | 2016 | Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. | 12 |
| 24240098 | 2014 | Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor. | 6 |
| 24240098 | 2014 | Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor. | 6 |
| 22406075 | 2012 | Association of single nucleotide polymorphisms of nicotinic acetylcholine receptor subunits with cervical neoplasia. | 0 |
| 22406075 | 2012 | Association of single nucleotide polymorphisms of nicotinic acetylcholine receptor subunits with cervical neoplasia. | 0 |
| 20584212 | 2010 | Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. | 66 |
| 20734064 | 2010 | A large-scale candidate gene association study of age at menarche and age at natural menopause. | 57 |
| 20736995 | 2010 | Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence. | 42 |
Citation
Dessen P
CHRNB1 (cholinergic receptor nicotinic beta 1 subunit)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/50005/chrnb1
