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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CHRNB1 Gene

protein-coding GIFtS: 64
GCID: GC17P007348

cholinergic receptor, nicotinic, beta 1 (muscle)

(Previous names: cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)...)
(Previous symbol: CHRNB)

Explore 14 diseases affiliated with
CHRNB1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cholinergic Receptor, Nicotinic, Beta 1 (Muscle)¹ ²		CMS2A² ⁵
CHRNB¹ ² ³		SCCMS² ⁵
ACHRB² ³ ⁵		Acetylcholine Receptor Subunit Beta²
Cholinergic Receptor, Nicotinic, Beta Polypeptide 1 (Muscle)¹ ²		Acetylcholine Receptor, Nicotinic, Beta 1 (Muscle)²
CMS1D² ⁵

External Ids:	HGNC: 1961¹	Entrez Gene: 1140²	Ensembl: ENSG00000170175⁷	OMIM: 100710⁵	UniProtKB: P11230³

Export aliases for CHRNB1 gene to outside databases

Previous GC identifers: GC17M007754 GC17P008078 GC17P007292 GC17P007548 GC17P007289

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CHRNB1:

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)

UniProtKB/Swiss-Prot: ACHB_HUMAN, P11230

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

summary for CHRNB1:

Nicotinic receptors (nAChRs) are ligand-gated ion channels that modulate cell membrane potentials. Each

receptor is composed of pentameric combinations of subunits (alpha1-10, beta1-4, delta, epsilon and gamma).

Nicotinic receptors are generally divided into three functional classes: muscle subunits (alpha1, beta1,

delta, epsilon, gamma), standard neuronal subunits (alpha1-6 and beta2-4) that form in pairwise alphabeta

combinations, and subunits (alpha7-9) that can form homomeric nAChRs. Neuronal nicotinic receptors are found

in the central nervous system and in autonomic ganglia where they regulate processes such as transmitter

release, cell excitability and neuronal integration. Nicotinic receptors located at the neuromuscular

junctions of somatic muscles are responsible for muscular contraction.

Gene Wiki entry for CHRNB1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010718.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CHRNB1 gene promoter:
SRF GATA-3 Pax-5 CUTL1 POU3F2 C/EBPalpha GATA-1 GATA-2 PPAR-gamma2
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for CHRNB1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHRNB1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1 Ensembl cytogenetic band: 17p13.1 HGNC cytogenetic band: 17p13.1

CHRNB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRNB1 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P007348: view genomic region (about GC identifiers)

Start:	7,348,380 bp from pter	End:	7,361,026 bp from pter
Size:	12,647 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACHB_HUMAN, P11230 (See protein sequence)

Recommended Name: Acetylcholine receptor subunit beta precursor

Size: 501 amino acids; 56698 Da

Subunit: Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in

mature muscle) chains

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

Multi-pass membrane protein

Secondary accessions: Q96FB8

Explore the universe of human proteins at neXtProt for CHRNB1: NX_P11230

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P11230

CHRNB1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000738.2

ENSEMBL proteins:

ENSP00000304290 ENSP00000461402 ENSP00000460648 ENSP00000439209 ENSP00000459092

ENSP00000461751

Human Recombinant Protein Products:

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	Browse Proteins at Uscn

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	--	--
GO:0005887	integral to plasma membrane	NAS	8872460
GO:0005892	acetylcholine-gated channel complex	IMP	8872460
GO:0016021	integral to membrane	--	--
GO:0030054	cell junction	IEA	--

CHRNB1 for ontologies About GeneDecksing

CHRNB1 Antibody Products:

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CHRNB1 for domains About GeneDecksing

5 InterPro domains/families:

IPR002394 Nicotinic_acetylcholine_rcpt

IPR018000 Neurotransmitter_ion_chnl_CS

IPR006201 Neur_channel

IPR006202 Neur_chan_lig-bd

IPR006029 Neurotrans-gated_channel_TM

Graphical View of Domain Structure for InterPro Entry P11230

ProtoNet protein and cluster: P11230

2 Blocks protein families:

IPB002394 Nicotinic acetylcholine receptor signature

IPB006201 Neurotransmitter-gated ion-channel

UniProtKB/Swiss-Prot: ACHB_HUMAN, P11230

Similarity: 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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ACHB_HUMAN, P11230

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

Genatlas biochemistry entry for CHRNB1:

cholinergic receptor,nicotinic,beta 1 polypeptide,muscle

miRNA Products:		miRTarBase miRNAs that target CHRNB1: hsa-mir-98 (MIRT004951)

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		hsa-miR-145* hsa-miR-7-1* hsa-miR-7-2* hsa-miR-3065-5p hsa-miR-138-2*
		SwitchGear 3'UTR luciferase reporter plasmid: CHRNB1 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNB1

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0004889	contributes to acetylcholine-activated cation-selective channel activity	ISS	--
GO:0005515	protein binding	--	--
GO:0015267	channel activity	IMP	8872460
GO:0015276	ligand-gated ion channel activity	ISS	--

CHRNB1 for ontologies About GeneDecksing

Animal Models:
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Chrnb1):

nervous system

CHRNB1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Calcium channels

Calcium channels

1.00

AMPK Enzyme Complex Pathway

AMPK Enzyme Complex Pathway

1.00

Nanog in Mammalian ESC Pluripotency

eNOS Signaling

0.48

Class A/1 (Rhodopsin-like receptors)

Neuroactive ligand-receptor interaction

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CHRNB1

Calcium channels

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHRNB1

	AMPK Enzyme Complex Pathway
	eNOS Signaling

1 Kegg Pathway (Kegg details for CHRNB1):

Neuroactive ligand-receptor interaction

CHRNB1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CHRNB1

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

5/17 Interacting proteins for CHRNB1 (P11230³ ENSP00000304290⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RAPSN	Q13702³, ENSP00000298854⁴	I2D: score=1 STRING: ENSP00000298854
COPS6	Q7L5N1³	I2D: score=3
CHRNA2	ENSP00000240132⁴	STRING: ENSP00000240132
CHRNA3	ENSP00000315602⁴	STRING: ENSP00000315602
CHRNA4	ENSP00000359285⁴	STRING: ENSP00000359285

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001941	postsynaptic membrane organization	IMP	8651643
GO:0006811	ion transport	--	--
GO:0006812	cation transport	IMP	8872460
GO:0006936	muscle contraction	IMP	8651643
GO:0007165	signal transduction	IMP	8872460

CHRNB1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for CHRNB1 available from Tocris Bioscience About this table

Compound	Action	CAS #
alpha-Conotoxin EI	alpha1beta1deltagamma selective nAChR antagonist	[170663-33-9]
Mecamylamine hydrochloride	Non-competitive nicotinic receptor antagonist	[826-39-1]
(�)-Epibatidine	Very potent nicotinic agonist	[140111-52-0]
(�)-Anatoxin A fumarate	Nicotinic agonist	[64285-06-9]

1 DrugBank Compound for CHRNB1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Galantamine	(-)-Galanthamine (see all 3)	357-70-0	target	allosteric modulator	12137632 11129124 12481195 20480924 12177686 10971048

Search CenterWatch for drugs/clinical trials and news about CHRNB1 / ACHB

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CHRNB1 gene:

NM_000747.2

Unigene Cluster for CHRNB1:

Cholinergic receptor, nicotinic, beta 1 (muscle)

Hs.330386 [show with all ESTs]

Unigene Representative Sequence: BC023553

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000306071(uc002ghb.3 uc010vty.2) ENST00000572857 ENST00000574054

ENST00000570557 ENST00000536404 ENST00000576360 ENST00000573209(uc010vtz.1)

ENST00000575379

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		5 QIAGEN miScript miRNA Assays for microRNAs that regulate CHRNB1:
		hsa-miR-145* hsa-miR-7-1* hsa-miR-7-2* hsa-miR-3065-5p hsa-miR-138-2*
		SwitchGear 3'UTR luciferase reporter plasmid: CHRNB1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHRNB1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHRNB1

Additional cDNA sequence:

AK298938.1 AK308106.1 BC011371.1 BC023553.2 X14830.1

7 DOTS entries:

DT.92418355 DT.441400 DT.97780381 DT.406908 DT.97825028 DT.120899047 DT.95123454

24/73 AceView cDNA sequences (see all 73):

BM680320 CD014139 AW273235 BC011371 AW407007 BG413434 NM_000747 BE350013

BQ548594 AW273177 BQ548884 BM724147 BU951875 BQ688060 BU663284 BG500518

CB992791 AW157173 BM459117 CB994947 AA503863 AU099979 BX110786 AA737129

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CHRNB1 (see all 7) About this scheme

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:

ECgene alternative splicing isoforms for CHRNB1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CHRNB1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTCGCTCAGG

About this image

CHRNB1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Zeugopod

Mesenchymal Condensate Cells

Bone, Cartilage

Bone

Limb

Limb

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CHRNB1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHRNB1

SOURCE GeneReport for Unigene cluster: Hs.330386

SABiosciences Expression via Pathway-Focused PCR Array including CHRNB1:

Hypertension in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNB1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CHRNB1 gene from 4/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
African clawed frog (Xenopus laevis)	Amphibia	LOC398048²	muscle nicotinic acetylcholine receptor beta subunit	75.87(n)	U04618.1
zebrafish (Danio rerio)	Actinopterygii	chrnb1¹	cholinergic receptor, nicotinic, beta 1 (muscle)	61.34(n) 62.26(a)	100006941 XM_001341831.1 XP_001341867.1
fruit fly (Drosophila melanogaster)	Insecta	nAcR&bgr;-64B³	nicotinic acetylcholine-activated cation-selective more	39(a)	64B6 --
worm (Caenorhabditis elegans)	Secernentea	lev-1³	acetylcholine receptor	35(a) (best of 3)	IV(13174445-13179316) --

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CHRNB1 gene

CHRNA5² CHRNA2² CHRNA1² CHRNA6² CHRNA7² CHRNE² CHRNB4² CHRNA4²

CHRNA10² CHRNA9² CHRNB2² CHRNG² CHRNA3² CHRFAM7A² CHRNB3² CHRND²

18/19 SIMAP similar genes for CHRNB1 using alignment to 7 protein entries: ACHB_HUMAN (see all proteins) (see all similar genes):

HTR3A CHRNA6 CHRNA5 CHRNB4 CHRNA3 CHRND

CHRNA7-2 CHRNA1 CHRNA4 HTR3E CHRNA2 CHRFAM7A

CHRNB3 CHRNE CHRNA7 CHRNB2 CHRNA9 CHRNG

CHRNB1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs145080386^1,2	C,	--	7346479(+)	`CCCTGA/GACTGG`	2	--	us2k¹ ut3¹		0	--	--	--	--
rs201225903^1,2		--	7346513(+)	`CCAGCC/TACCAC`	2	--	us2k¹ ut3¹		0	--	--	--	--
rs4151133^1,2	C,F,H,	--	7346739(+)	`ACAACC/GCCATG`	1	--	us2k¹		19		NS NA WA CSA	980
rs189331761^1,2		--	7346762(+)	`ATGGCA/GCTGGG`	2	--	ut3¹ us2k¹		0	--	--	--	--
rs192684905^1,2		--	7346965(+)	`CAGGGC/TCACTT`	2	--	ut3¹ us2k¹		0	--	--	--	--
rs148322467^1,2		--	7346986(+)	`GCTCTC/GTGCTG`	2	--	us2k¹ ut3¹		0	--	--	--	--
rs3829603^1,2	C,F,A,H,	--	7347042(+)	`CTGTCC/ATTGAC`	1	--	us2k¹		35		NS EA NA WA CSA	3540
rs4151134^1,2	C,F,A,H,	--	7347123(+)	`TGAACC/TGGAAC`	2	--	us2k¹ ut3¹		21		NS EA NA WA CSA	2406
rs141432540^1,2		--	7347124(+)	`GAACCA/GGAACC`	2	--	us2k¹ ut3¹		0	--	--	--	--
rs184662875^1,2		--	7347180(+)	`CAATTC/TTAGAG`	2	--	ut3¹ us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CHRNB1 (7348380 - 7361026 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CHRNB1: --
Human Gene Mutation Database (HGMD): CHRNB1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CHRNB1 for disorders           About GeneDecksing

OMIM gene information: 100710
OMIM disorders: 601462  608931
UniProtKB/Swiss-Prot: ACHB_HUMAN, P11230

Defects in CHRNB1 are a cause of congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]. SCCMS

is the most common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by 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. SCCMS is caused by kinetic abnormalities of the

AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes

Defects in CHRNB1 are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency

(CMS-ACHRD) [MIM:608931]. CMS-ACHRD is a postsynaptic congenital myasthenic syndrome. Mutations underlying AChR

deficiency cause a 'loss of function' and show recessive inheritance

14 diseases for CHRNB1: About MalaCards

slow-channel congenital myasthenic syndrome congenital myasthenic syndrome myasthenic syndrome autosomal dominant nocturnal frontal lobe epilepsy

frontal lobe epilepsy lymphangioma cystic lymphangioma nicotine dependence

neuronitis pterygium ptosis myasthenia

hypotonia lung cancer

3 diseases from the University of Copenhagen DISEASES database for CHRNB1:

Nicotine dependence Neuropathy Myopathy

GeneTests: CHRNB1

Congenital Myasthenic Syndromes

Human Genome Epidemiology (HuGE) Navigator: CHRNB1 (8 documents)

Export disorders for CHRNB1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CHRNB1 gene, integrated from 9 sources (see all 32):
(articles sorted by number of sources associating them with CHRNB1)

Utopia: connect your pdf to the dynamic
world of online information

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. (PubMed id 10562302)^{1, 2} Quiram P.A.... Engel A.G. (1999)
A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome. (PubMed id 8651643)^{1, 2} Gomez C.M.... Kuncl R.W. (1996)
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. (PubMed id 8872460)^{1, 2} Engel A.G....Sine S.M. (1996)
Nucleotide sequence of human muscle acetylcholine receptor beta- subunit. (PubMed id 2740233)^{1, 2} Beeson D.M.W.... Newsom-Davis J. (1989)
Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence. (PubMed id 16874522)^{1, 9} Lou X.Y....Li M.D. (2006)
Association of single nucleotide polymorphisms of nico tinic acetylcholine receptor subunits with cervical neoplasia. (PubMed id 22406075)¹ Calleja-Macias I....Bernard H.U. (2012)
Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. (PubMed id 20584212)¹ Saccone N.L....Bierut L.J. (2010)
Resequencing of nicotinic acetylcholine receptor gene s and association of common and rare variants with the FagerstrAPm test for nico tine dependence. (PubMed id 20736995)¹ Wessel J....Bergen A.W. (2010)
A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)¹ He C....Hunter D.J. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1140	HGNC: 1961	AceView: CHRNB1	Ensembl:ENSG00000170175	euGenes: HUgn1140
ECgene: CHRNB1	Kegg: 1140	H-InvDB: CHRNB1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CHRNB1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRNB1

Intellectual Property for CHRNB1 gene
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Patent Information for CHRNB1 gene:
Search GeneIP for patents involving CHRNB1

GeneCards and IP:
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cholinergic receptor, nicotinic, beta 1 (muscle)

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cholinergic receptor, nicotinic, beta 1 (muscle)

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