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CHRNB1 Gene(Protein Coding)

Cholinergic Receptor Nicotinic Beta 1 Subunit

GCID:
GC17P007639
GIFtS:
61
Genes Participants
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Aliases for CHRNB1 Gene

Aliases for CHRNB1 Gene

  • Cholinergic Receptor Nicotinic Beta 1 Subunit 2 3 5
  • Cholinergic Receptor, Nicotinic, Beta Polypeptide 1 (Muscle) 2 3
  • Acetylcholine Receptor, Nicotinic, Beta 1 (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic, Beta 1 (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic Beta 1 2 3
  • CHRNB 3 4
  • ACHRB 3 4
  • Acetylcholine Receptor Subunit Beta 3
  • CMS2A 3
  • SCCMS 3
  • CMS1D 3
  • CMS2C 3

External Ids for CHRNB1 Gene

Previous HGNC Symbols for CHRNB1 Gene

  • CHRNB

Previous GeneCards Identifiers for CHRNB1 Gene

  • GC17M007754
  • GC17P008078
  • GC17P007292
  • GC17P007548
  • GC17P007289
  • GC17P007348
  • GC17P007458
  • GC17P007470
  • GC17P007504
  • GC17P007508
  • GC17P007559

Summaries for CHRNB1 Gene

Entrez Gene Summary for CHRNB1 Gene

  • The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for CHRNB1 Gene

CHRNB1 (Cholinergic Receptor Nicotinic Beta 1 Subunit) is a Protein Coding gene. Diseases associated with CHRNB1 include Myasthenic Syndrome, Congenital, 2A, Slow-Channel and Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency. Among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include extracellular ligand-gated ion channel activity and channel activity. An important paralog of this gene is CHRNG.

UniProtKB/Swiss-Prot for CHRNB1 Gene

  • After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Gene Wiki entry for CHRNB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNB1 Gene

Genomics for CHRNB1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for CHRNB1 Gene

Enhancers for CHRNB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G007474 1.8 FANTOM5 ENCODE dbSUPER 48 +35.5 35529 12.5 CREB3L1 AGO1 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 DVL2 CHRNB1 SNORD10 PFAS SNORA48 KCTD11 NEURL4 CTC1 CD68 FGF11
GH17G007454 1.3 ENCODE dbSUPER 39.9 +10.9 10920 2.0 HDGF PKNOX1 ATF1 CREB3L1 AGO1 ZNF493 ZFP64 SIN3A FEZF1 YY1 DVL2 CHRNB1 NLGN2 NEURL4 ENSG00000265749 PFAS SENP3 FGF11 CTC1 ZBTB4
GH17G007450 1.2 ENCODE dbSUPER 38.9 +6.3 6342 2.5 HDGF PKNOX1 ZNF493 ZFP64 ZNF2 ZNF207 FOS KDM4B ZNF263 ZNF202 DVL2 CHRNB1 PFAS ENSG00000265749 CTC1 NLGN2 CNTROB SNORD10 NEURL4 MIR497HG
GH17G007442 1 ENCODE 38.8 -0.4 -380 3.4 PKNOX1 ARNT AGO1 ZFP64 ARID4B ZNF2 ZNF48 YY1 SLC30A9 GLIS2 CHRNB1 ENSG00000263301
GH17G007491 1 ENCODE 37.3 +46.7 46746 0.3 HDGF ATF1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 CHRNB1 POLR2A GC17M007507
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHRNB1 on UCSC Golden Path with GeneCards custom track

Promoters for CHRNB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090862 339 801 AGO1 ZFP64 ARID4B ZNF2 ZNF48 YY1 SLC30A9 GLIS2 ZMIZ1 KDM4B

Transcription factor binding sites by QIAGEN in the CHRNB1 gene promoter:

Genomic Location for CHRNB1 Gene

Chromosome:
17
Start:
7,445,061 bp from pter
End:
7,457,707 bp from pter
Size:
12,647 bases
Orientation:
Plus strand

Genomic View for CHRNB1 Gene

Genes around CHRNB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRNB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRNB1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CHRNB1 Gene

Proteins for CHRNB1 Gene

Products:

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  • Protein details for CHRNB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11230-ACHB_HUMAN
    Recommended name:
    Acetylcholine receptor subunit beta
    Protein Accession:
    P11230
    Secondary Accessions:
    • B7Z5H1
    • Q8IZ46
    • Q96FB8

    Protein attributes for CHRNB1 Gene

    Size:
    501 amino acids
    Molecular mass:
    56698 Da
    Quaternary structure:
    • Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains.

    Alternative splice isoforms for CHRNB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNB1 Gene

Protein Expression for CHRNB1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CHRNB1 Gene

  • Glycosylation at Asn164
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHRNB1 Gene

Domains & Families for CHRNB1 Gene

Gene Families for CHRNB1 Gene

HGNC:
IUPHAR :

Protein Domains for CHRNB1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CHRNB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P11230

UniProtKB/Swiss-Prot:

ACHB_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-1/CHRNB1 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-1/CHRNB1 sub-subfamily.
genes like me logo Genes that share domains with CHRNB1: view

Function for CHRNB1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line
  7. Flow Cytometry

Molecular function for CHRNB1 Gene

GENATLAS Biochemistry:
cholinergic receptor,nicotinic,beta 1 polypeptide,muscle
UniProtKB/Swiss-Prot Function:
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Gene Ontology (GO) - Molecular Function for CHRNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0015267 channel activity IMP 8872460
GO:0015276 ligand-gated ion channel activity ISS --
GO:0015464 contributes_to acetylcholine receptor activity IMP 8651643
genes like me logo Genes that share ontologies with CHRNB1: view
genes like me logo Genes that share phenotypes with CHRNB1: view

Human Phenotype Ontology for CHRNB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CHRNB1 Gene

Localization for CHRNB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNB1 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHRNB1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CHRNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane NAS 8872460
GO:0005892 acetylcholine-gated channel complex IMP 8872460
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHRNB1: view

Pathways & Interactions for CHRNB1 Gene

genes like me logo Genes that share pathways with CHRNB1: view

Pathways by source for CHRNB1 Gene

1 KEGG pathway for CHRNB1 Gene
2 Qiagen pathways for CHRNB1 Gene

Gene Ontology (GO) - Biological Process for CHRNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001941 postsynaptic membrane organization IMP 8651643
GO:0003009 skeletal muscle contraction IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IMP 8872460
genes like me logo Genes that share ontologies with CHRNB1: view

No data available for SIGNOR curated interactions for CHRNB1 Gene

Drugs & Compounds for CHRNB1 Gene

Products:

  1. Drug

(50) Drugs for CHRNB1 Gene - From: DrugBank and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Galantamine Approved Pharma Target, allosteric modulator 106
(-)-Lobeline hydrochloride Pharma 0
(+)-Anabasine hydrochloride Pharma 0
(+)-Tubocurarine chloride Pharma 0
(±)-Anatoxin A fumarate Pharma 0

(49) ApexBio Compounds for CHRNB1 Gene

Compound Action Cas Number
(-)-Lobeline hydrochloride 134-63-4
(+)-Anabasine hydrochloride 53912-89-3
(+)-Tubocurarine chloride 57-94-3
(±)-Anatoxin A fumarate 1219922-30-1
(±)-Epibatidine dopamine receptor antagonist 148152-66-3
1-Acetyl-4-methylpiperazine hydrochloride 144205-68-5
3-Bromocytisine 207390-14-5
4-Acetyl-1,1-dimethylpiperazinium iodide 75667-84-4
5-Iodo-A-85380, 5-trimethylstannyl N-BOC derivative 213766-21-3
Benzoquinonium dibromide inhibitor of AChR and ganglion 311-09-1
bPiDDB 525596-66-1
Carbamoylcholine chloride 51-83-2
Catestatin 142211-96-9
CCMI 917837-54-8
Chlorisondamine diiodide 96750-66-2
Desformylflustrabromine hydrochloride 951322-11-5
Dihydro-β-erythroidine hydrobromide antagonist of nAChRs 29734-68-7
DMAB-anabaseine dihydrochloride 154149-38-9
EVP-6124 NAChRs agonist 550999-75-2
GTS 21 dihydrochloride nAChRs agonist, novel 156223-05-1
Ivermectin B1a-d2
LX-1031 TPH inhibitor 945976-76-1
LY 2087101 913186-74-0
Mecamylamine hydrochloride 826-39-1
Methyllycaconitine citrate 112825-05-5
MG 624 77257-42-2
NS 1738 501684-93-1
PHA 543613 hydrochloride 478149-53-0
PHA 568487 527680-57-5
PNU 282987 123464-89-1
RJR 2429 dihydrochloride 1021418-53-0
RJR-2403 Nicotinic receptor agonist,highly selective 15585-43-0
RJR-2403 hemioxalate Neuronal nicotinic receptor agonist
RJR-2403 oxalate Nicotinic receptor agonist 220662-95-3
RuBi-Nicotine 1256362-30-7
S 24795 304679-75-2
Sazetidine A dihydrochloride 1197329-42-2
SEN 12333 874450-44-9
SIB 1553A hydrochloride 191611-89-9
SR 16584 1150153-86-8
TC 1698 dihydrochloride 787587-06-8
TC 2559 difumarate 212332-35-9
TMPH hydrochloride 849461-91-2
TQS 353483-92-8
UB 165 fumarate 200432-86-6
α-Bungarotoxin 11032-79-4
α-Conotoxin AuIB 216299-21-7
α-Conotoxin EI 170663-33-9
α-Conotoxin PnIA 705300-84-1
genes like me logo Genes that share compounds with CHRNB1: view

Transcripts for CHRNB1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CHRNB1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(73) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHRNB1 Gene

Cholinergic receptor, nicotinic, beta 1 (muscle):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHRNB1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: - - -
SP2: - - - -
SP3: -
SP4: - -
SP5:
SP6:
SP7:

Relevant External Links for CHRNB1 Gene

GeneLoc Exon Structure for
CHRNB1
ECgene alternative splicing isoforms for
CHRNB1

Expression for CHRNB1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHRNB1 Gene

mRNA expression in normal human tissues for CHRNB1 Gene
mRNA expression by BioGPS for CHRNB1 GenemRNA expression by GTEx for CHRNB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHRNB1 Gene

This gene is overexpressed in Muscle - Skeletal (x18.0).

Protein differential expression in normal tissues from HIPED for CHRNB1 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CHRNB1 Gene



Protein tissue co-expression partners for CHRNB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CHRNB1 Gene:

CHRNB1

SOURCE GeneReport for Unigene cluster for CHRNB1 Gene:

Hs.330386

Evidence on tissue expression from TISSUES for CHRNB1 Gene

  • Muscle(4.7)
  • Eye(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRNB1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • kidney
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CHRNB1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CHRNB1 Gene

Orthologs for CHRNB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CHRNB1 34 35
  • 99.53 (n)
cow
(Bos Taurus)
 Mammalia CHRNB1 34 35
  • 90.43 (n)
dog
(Canis familiaris)
 Mammalia CHRNB1 34 35
  • 88.84 (n)
mouse
(Mus musculus)
 Mammalia Chrnb1 34 16 35
  • 86.35 (n)
rat
(Rattus norvegicus)
 Mammalia Chrnb1 34
  • 85.53 (n)
oppossum
(Monodelphis domestica)
 Mammalia CHRNB1 35
  • 77 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CHRNB1 35
  • 77 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia LOC398048 34
zebrafish
(Danio rerio)
 Actinopterygii chrnb1 34 35
  • 61.2 (n)
chrnb1l 35
  • 55 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta nAcRbgr-64B 36
  • 39 (a)
nAcRbeta-64B 35
  • 35 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea lev-1 36 35
  • 35 (a)
unc-29 36 35
  • 34 (a)
acr-3 35
  • 32 (a)
 ManyToMany
acr-14 36
  • 31 (a)
acr-2 35
  • 29 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 41 (a)
 OneToMany
Species where no ortholog for CHRNB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CHRNB1 Gene

ENSEMBL:
Gene Tree for CHRNB1 (if available)
TreeFam:
Gene Tree for CHRNB1 (if available)

Paralogs for CHRNB1 Gene

Paralogs for CHRNB1 Gene

(19) SIMAP similar genes for CHRNB1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CHRNB1: view

Variants for CHRNB1 Gene

Sequence variations from dbSNP and Humsavar for CHRNB1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs137852810 Pathogenic, Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313] 7,454,341(+) TTACT(A/G)TGTTC reference, missense
rs137852811 Pathogenic, Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313] 7,454,329(+) CCCTG(A/C)TGACC reference, missense
VAR_077363 Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313]
rs886041490 Pathogenic 7,454,395(+) TACCC(-/A)TTATT reference, frameshift-variant
rs138041351 Likely benign 7,445,295(+) GAGGG(C/T)CGACT downstream-variant-500B, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for CHRNB1 Gene

Variant ID Type Subtype PubMed ID
esv2422288 CNV deletion 17116639
nsv1071367 CNV deletion 25765185
nsv457659 CNV loss 19166990
nsv523672 CNV loss 19592680
nsv574322 CNV loss 21841781
nsv952118 CNV deletion 24416366
nsv978356 CNV duplication 23825009

Variation tolerance for CHRNB1 Gene

Residual Variation Intolerance Score: 49.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.91; 79.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHRNB1 Gene

Human Gene Mutation Database (HGMD)
CHRNB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRNB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNB1 Gene

Disorders for CHRNB1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CHRNB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ACHB_HUMAN
  • Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. {ECO:0000269 PubMed:27375219, ECO:0000269 PubMed:8651643, ECO:0000269 PubMed:8872460}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CMS2C) [MIM:616314]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. CMS2C is clinically characterized by early-onset muscle weakness with variable severity. {ECO:0000269 PubMed:10562302}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHRNB1

Genetic Association Database (GAD)
CHRNB1
Human Genome Epidemiology (HuGE) Navigator
CHRNB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHRNB1
genes like me logo Genes that share disorders with CHRNB1: view

No data available for Genatlas for CHRNB1 Gene

Publications for CHRNB1 Gene

  1. Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence. (PMID: 16874522) Lou X.Y. … Li M.D. (Hum. Genet. 2006) 3 22 46 64
  2. Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. (PMID: 20584212) Saccone N.L. … Bierut L.J. (Genes Brain Behav. 2010) 3 46 64
  3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64
  4. Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the FagerstrAPm test for nicotine dependence. (PMID: 20736995) Wessel J. … Bergen A.W. (Neuropsychopharmacology 2010) 3 46 64
  5. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64

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