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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CHRNB4 Gene

protein-coding GIFtS: 62
GCID: GC15M078916

cholinergic receptor, nicotinic, beta 4 (neuronal)

(Previous names: cholinergic receptor, nicotinic, beta polypeptide 4 )

Explore 5 diseases affiliated with
CHRNB4 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 4 (Neuronal)¹ ²
Cholinergic Receptor, Nicotinic, Beta Polypeptide 4¹ ²
Acetylcholine Receptor, Nicotinic, Beta 4 (Neuronal)²
Neuronal Acetylcholine Receptor Subunit Beta-4²
Neuronal Nicotinic Receptor Beta 4 Subunit²

External Ids:	HGNC: 1964¹	Entrez Gene: 1143²	Ensembl: ENSG00000117971⁷	OMIM: 118509⁵	UniProtKB: P30926³

Export aliases for CHRNB4 gene to outside databases

Previous GC identifers: GC15P074970 GC15M072006 GC15M076492 GC15M076632 GC15M076703 GC15M055674

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

UniProtKB/Swiss-Prot: ACHB4_HUMAN, P30926

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 CHRNB4:

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 CHRNB4

(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_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CHRNB4 gene promoter:
AhR Max1 NF-E2 p45 Tal-1beta Arnt HNF-1A HNF-1 NF-E2 ITF-2 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CHRNB4 promoter sequence

Search SABiosciences Chromatin IP Primers for CHRNB4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHRNB4

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

Entrez Gene cytogenetic band: 15q24 Ensembl cytogenetic band: 15q25.1 HGNC cytogenetic band: 15q24

CHRNB4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRNB4 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M078916: view genomic region (about GC identifiers)

Start:	78,916,461 bp from pter	End:	79,012,628 bp from pter
Size:	96,168 bases	Orientation:	minus 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: ACHB4_HUMAN, P30926 (See protein sequence)

Recommended Name: Neuronal acetylcholine receptor subunit beta-4 precursor

Size: 498 amino acids; 56380 Da

Subunit: Neuronal AChR is composed of two different types of subunits: alpha and beta. Beta-4 subunit can be combined

to alpha-2, alpha-3 or alpha-4 to give rise to functional receptors. Interacts with RIC3; which is required for proper

folding and assembly

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

Multi-pass membrane protein

1 PDB 3D structure from and Proteopedia for CHRNB4:

2ASG (3D)

Secondary accessions: Q16607 Q4VBA5 Q8WXC8 Q9BQR4

Explore the universe of human proteins at neXtProt for CHRNB4: NX_P30926

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P30926

CHRNB4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000741.1 NP_001243496.1

ENSEMBL proteins:

ENSP00000261751 ENSP00000416386 ENSP00000457404 ENSP00000453442

Reactome Protein details: P30926
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	TAS	--
GO:0005887	integral to plasma membrane	IC	11742001
GO:0005892	acetylcholine-gated channel complex	TAS	11742001
GO:0016021	integral to membrane	NAS	8906617
GO:0019717	synaptosome	--	--

CHRNB4 for ontologies About GeneDecksing

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

CHRNB4 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 P30926

ProtoNet protein and cluster: P30926

2 Blocks protein families:

IPB002394 Nicotinic acetylcholine receptor signature

IPB006201 Neurotransmitter-gated ion-channel

UniProtKB/Swiss-Prot: ACHB4_HUMAN, P30926

Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily.

Beta-4/CHRNB4 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: ACHB4_HUMAN, P30926

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 CHRNB4:

cholinergic receptor,nicotinic,beta 4 polypeptide,neuronal

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		1 QIAGEN miScript miRNA Assays for microRNA that regulate CHRNB4:
		hsa-miR-1252
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNB4

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0004889	acetylcholine-activated cation-selective channel activity	TAS	11742001
GO:0005230	extracellular ligand-gated ion channel activity	--	--
GO:0015276	ligand-gated ion channel activity	TAS	--
GO:0015464	acetylcholine receptor activity	IDA	8906617

CHRNB4 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CHRNB4:

Synthetic lethal with Ras

Animal Models:
Mouse knock-out Chrnb4^tm1Mdb for CHRNB4
13 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Chrnb4):

behavior/neurological	craniofacial	digestive/alimentary	growth/size	hearing/vestibular/ear
homeostasis/metabolism	immune system	integument	mortality/aging	muscle
nervous system	renal/urinary system	vision/eye

CHRNB4 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 - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Presynaptic nicotinic acetylcholine receptors

8/9 pathways (see all 9)
Presynaptic nicotinic acetylcholine receptors	1.00	Highly calcium permeable postsynaptic nicotinic acetylcholine receptors	0.64
Activation of Nicotinic Acetylcholine Receptors	0.86	Highly sodium permeable acetylcholine nicotinic receptors	0.58
Postsynaptic nicotinic acetylcholine receptors	0.86	Nicotine Pathway (Chromaffin Cell), Pharmacodynamics	0.14
Acetylcholine Binding And Downstream Events	0.86	Nicotine Activity on Chromaffin Cells	0.14

Transmission across Chemical Synapses

	Transmission across Chemical Synapses	1.00			Neuronal System	0.67
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	0.72

Sympathetic Nerve Pathway (Neuroeffector Junction)

Sympathetic Nerve Pathway (Neuroeffector Junction)

1.00

Calcium channels

Calcium channels

1.00

SIDS Susceptibility Pathways

SIDS Susceptibility Pathways

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CHRNB4

Calcium channels

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CHRNB4

eNOS Signaling

2 BioSystems Pathways for CHRNB4

	SIDS Susceptibility Pathways
	Nicotine Activity on Chromaffin Cells

5/10 Reactome Pathways for CHRNB4 (see all 10)

	Activation of Nicotinic Acetylcholine Receptors
	Transmission across Chemical Synapses
	Acetylcholine Binding And Downstream Events
	Highly calcium permeable nicotinic acetylcholine receptors
	Highly calcium permeable postsynaptic nicotinic acetylcholine receptors

3 PharmGKB Pathways for CHRNB4

	Nicotine Pathway (Chromaffin Cell), Pharmacodynamics
	Sympathetic Nerve Pathway (Neuroeffector Junction)
	Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)

2 Kegg Pathways (Kegg details for CHRNB4):

	Neuroactive ligand-receptor interaction
	Cholinergic synapse

CHRNB4 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CHRNB4

STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

5/17 Interacting proteins for CHRNB4 (P30926³ ENSP00000261751⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CHRNA2	Q15822³, ENSP00000240132⁴	I2D: score=2 STRING: ENSP00000240132
CHRNA3	P32297³, ENSP00000315602⁴	I2D: score=1 STRING: ENSP00000315602
CHRNA4	P43681³, ENSP00000359285⁴	I2D: score=1 STRING: ENSP00000359285
CHRNA5	P30532³, ENSP00000299565⁴	I2D: score=1 STRING: ENSP00000299565
UBQLN1	Q9UMX0³, ENSP00000365576⁴	I2D: score=1 STRING: ENSP00000365576

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001508	regulation of action potential	IEA	--
GO:0006811	ion transport	TAS	8906617
GO:0006939	smooth muscle contraction	IEA	--
GO:0006940	regulation of smooth muscle contraction	IEA	--
GO:0007165	signal transduction	IDA	8906617

CHRNB4 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 CHRNB4 available from Tocris Bioscience About this table

Compound	Action	CAS #
Mecamylamine hydrochloride	Non-competitive nicotinic receptor antagonist	[826-39-1]
alpha-Conotoxin AuIB	Selective alpha3beta4 nAChR antagonist	[216299-21-7]
(�)-Epibatidine	Very potent nicotinic agonist	[140111-52-0]
(�)-Anatoxin A fumarate	Nicotinic agonist	[64285-06-9]

4 DrugBank Compounds for CHRNB4 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
Nicotine	L-Nicotine (see all 2)	54-11-5	target	agonist	19560048 20081230 20400469 11006350
Levomethadyl Acetate	1-alpha-acetylmethadol (see all 9)	1477-40-3	target	other/unknown	11561100
Pentolinium	Pentolinium tartrate (see all 3)	52-62-0	target	antagonist	7761270

Search CenterWatch for drugs/clinical trials and news about CHRNB4 / ACHB4

(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 CHRNB4 gene (2 alternative transcripts):

NM_000750.3 NM_001256567.1

Unigene Cluster for CHRNB4:

Cholinergic receptor, nicotinic, beta 4 (neuronal)

Hs.624178 [show with all ESTs]

Unigene Representative Sequence: U48861

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

ENST00000261751(uc002bed.1 uc002bee.1) ENST00000412074 ENST00000559849(uc010blh.1)

ENST00000560511

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHRNB4
		1 QIAGEN miScript miRNA Assays for microRNA that regulate CHRNB4:
		hsa-miR-1252
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Additional cDNA sequence:

AK310443.1 BC096080.1 BC096081.1 BC096082.1 BC096083.1 U48861.1 U62439.1 X68275.1

Y08416.1

3 DOTS entries:

DT.108533 DT.100810895 DT.121050497

23 AceView cDNA sequences:

CR617765 AA909339 U62439 Y08416 BX374818 BX425453 NM_000750 BX283993

BX353375 BX098202 U48861 BQ718501 BX348201 X68275 AI625439 BM557937

BX390125 BF311784 AA101302 AA905514 BG460158 CD691021 AI024204

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for CHRNB4 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5a	·	5b	^	6a	·	6b	^	7
SP1:					-						-
SP2:					-						-		-		-
SP3:					-
SP4:

ECgene alternative splicing isoforms for CHRNB4

(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

CHRNB4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTCCAATCC

About this image

CHRNB4 expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CHRNB4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHRNB4

SOURCE GeneReport for Unigene cluster: Hs.624178

SABiosciences Custom PCR Arrays for CHRNB4

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHRNB4 Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNB4

(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 CHRNB4 gene from 4/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
chicken (Gallus gallus)	Aves	CHRNB4¹	cholinergic receptor, nicotinic, beta 4 (neuronal)	68.67(n) 75.98(a)	395613 NM_204819.1 NP_990150.1
zebrafish (Danio rerio)	Actinopterygii	LOC568566¹	neuronal acetylcholine receptor subunit beta-4-like	68.72(n) 67.52(a)	568566 XM_691901.2 XP_696993.2
fruit fly (Drosophila melanogaster)	Insecta	nAcRalpha-96Aa³ nAcRbeta-96A¹	nicotinic acetylcholine-activated cation-selective more³ nicotinic Acetylcholine Receptor beta 96A¹	53(a) (best of 7)³ 53.76(n)¹ 48.89(a)¹	42920¹ NM_079759.3¹ NP_524483.1¹
worm (Caenorhabditis elegans)	Secernentea	acr-2³	nicotinic acetylcholine receptor subunit	45(a) (best of 16)	X(6737955-6744405) --

ENSEMBL Gene Tree for CHRNB4 (if available)
TreeFam Gene Tree for CHRNB4 (if available)

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

Paralogs for CHRNB4 gene

CHRNA5² CHRNA2² CHRNA1² CHRNA6² CHRNA7² CHRNE² CHRNA4² CHRNA10²

CHRNA9² CHRNB2² CHRNG² CHRNA3² CHRFAM7A² CHRNB1² CHRNB3² CHRND²

18 SIMAP similar genes for CHRNB4 using alignment to 5 protein entries: ACHB4_HUMAN (see all proteins):

CHRNB2 CHRNA5 CHRNA6 CHRNA3 CHRNA7-2 CHRNA2

CHRNB3 CHRNA1 CHRNB1 CHRNG CHRNA7 CHRNA10

CHRND CHRFAM7A CHRNE CHRNA4 CHRNA9 HTR3A

CHRNB4 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 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11635955^1,2	C,A,H,	--	78916157(+)	`taaaaG/Atcaat`	2	--	ds500¹		2		NA	122
rs183746160^1,2		--	78916162(+)	`GTCAAC/TTTTAT`	2	--	ds500¹		0	--	--	--	--
rs4887070^1,2	C,F,H,	--	78916187(+)	`TAAAAT/CAGAAT`	2	--	ds500¹		9		WA NA CSA EA	369
rs189636396^1,2		--	78916273(+)	`ATGTGC/TGAGGA`	2	--	ds500¹		0	--	--	--	--
rs28680238^1,2	C,F,H,	--	78916274(+)	`TGTGCG/AAGGAG`	2	--	ds500¹		8		NS NA WA	778
rs181763754^1,2		--	78916342(+)	`AAAGTA/GACCAG`	2	--	ds500¹		0	--	--	--	--
rs184559657^1,2		--	78916352(+)	`GCACCA/GCAGTC`	2	--	ds500¹		0	--	--	--	--
rs79845309^1,2	C,	--	78916472(-)	`GCTCAA/GTAAAT`	2	--	ds500¹		2		CSA WA	120
rs189843510^1,2		--	78916524(+)	`TACCAC/GGAATG`	2	--	ds500¹		0	--	--	--	--
rs71532872^1,2	C,	--	78916567(+)	`CACTC-/ATAGTG`	2	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CHRNB4 (78916461 - 79012628 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CHRNB4: --
Human Gene Mutation Database (HGMD): CHRNB4

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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.)
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CHRNB4 for disorders           About GeneDecksing

OMIM gene information: 118509    OMIM disorders: --

5 diseases for CHRNB4:    About MalaCards

neuronitis lateral sclerosis lung carcinoma neuroblastoma

carcinoma

4 diseases from the University of Copenhagen DISEASES database for CHRNB4:

Nicotine dependence Cocaine dependence Lung cancer Alcohol dependence

Human Genome Epidemiology (HuGE) Navigator: CHRNB4 (38 documents)

Export disorders for CHRNB4 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)
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PubMed articles for CHRNB4 gene, integrated from 9 sources (see all 103):
(articles sorted by number of sources associating them with CHRNB4)

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

Transcription factors NF-Y and Sp1 are important determinants of the promoter activity of the bovine and human neuronal nicotinic receptor beta 4 subunit genes. (PubMed id 11742001)^{1, 2, 9} Valor L.M.... Criado M. (2002)
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)
Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4. (PubMed id 11450844)^{1, 2} Lev-Lehman E.... Beaudet A.L. (2001)
'Orphan' alpha6 nicotinic AChR subunit can form a functional heteromeric acetylcholine receptor. (PubMed id 9203638)^{1, 2} Gerzanich V.... Lindstrom J. (1997)
Cloning and sequence of full-length cDNAs encoding the human neuronal nicotinic acetylcholine receptor (nAChR) subunits beta3 and beta4 and expression of seven nAChR subunits in the human neuroblastoma cell line SH-SY5Y and/or IMR-32. (PubMed id 9009220)^{1, 2} Groot Kormelink P.J. and Luyten W.H.M.L. (1997)
Comparative structure of human neuronal alpha 2-alpha 7 and beta 2- beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits. (PubMed id 8906617)^{1, 2} Elliott K.J.... Harpold M.M. (1996)
Neuronal-type nicotinic receptors in human neuroblastoma and small- cell lung carcinoma cell lines. (PubMed id 1330682)^{1, 2} Tarroni P....Clementi F. (1992)
Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. (PubMed id 2004777)^{1, 3} Eng C.M....Zoghbi H.Y. (1991)
Chromosomal localization and physical linkage of the genes encoding the human alpha 3, alpha 5, and beta 4 neuronal nicotinic receptor subunits. (PubMed id 1572664)^{1, 9} Raimondi E....Clementi F. (1992)
Rare missense variants of neuronal nicotinic acetylch oline receptor altering receptor function are associated with sporadic amyotrop hic lateral sclerosis. (PubMed id 19628475)^{1, 9} Sabatelli M....Zollino M. (2009)

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

Entrez Gene: 1143	HGNC: 1964	AceView: CHRNB4	Ensembl:ENSG00000117971	euGenes: HUgn1143
ECgene: CHRNB4	Kegg: 1143	H-InvDB: CHRNB4

(According to HUGE)
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(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 CHRNB4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CHRNB4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CHRNB4 gene:
Search GeneIP for patents involving CHRNB4

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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cholinergic receptor, nicotinic, beta 4 (neuronal)

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CHRNB4 Gene

cholinergic receptor, nicotinic, beta 4 (neuronal)

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