CHRNB1 (cholinergic receptor nicotinic beta 1 subunit)

2007-02-01  

Identity

HGNC
CHRNB1
LOCATION
17p13.1
LOCUSID
1140
ALIAS
ACHRB,CHRNB,CMS1D,CMS2A,CMS2C,SCCMS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1140
MIM: 100710
HGNC: 1961
Ensembl: ENSG00000170175

Variants:

dbSNP: 1140
ClinVar: 1140
TCGA: ENSG00000170175
COSMIC: CHRNB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170175ENST00000306071P11230
ENSG00000170175ENST00000536404P11230
ENSG00000170175ENST00000570557I3L3Q9
ENSG00000170175ENST00000572857I3L4N5
ENSG00000170175ENST00000575379I3L535
ENSG00000170175ENST00000576360I3L1T7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080

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
359697992022Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis.1
359697992022Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis.1
332961472021CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.3
332961472021CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.3
281535242017Cellular protein and mRNA expression of β1 nicotinic acetylcholine receptor (nAChR) subunit in brain, skeletal muscle and placenta.6
281535242017Cellular protein and mRNA expression of β1 nicotinic acetylcholine receptor (nAChR) subunit in brain, skeletal muscle and placenta.6
273752192016Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.12
273752192016Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.12
242400982014Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor.6
242400982014Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor.6
224060752012Association of single nucleotide polymorphisms of nicotinic acetylcholine receptor subunits with cervical neoplasia.0
224060752012Association of single nucleotide polymorphisms of nicotinic acetylcholine receptor subunits with cervical neoplasia.0
205842122010Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.66
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.57
207369952010Resequencing 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/haematological-explorer/case-report-explorer/deep-insight-explorer/