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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CHRNA3 Gene

protein-coding GIFtS: 62
GCID: GC15M078885

cholinergic receptor, nicotinic, alpha 3 (neuronal)

(Previous names: cholinergic receptor, nicotinic, alpha polypeptide 3 )

Explore 20 diseases affiliated with
CHRNA3 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, Alpha 3 (Neuronal)¹ ²		PAOD2² ⁵
Cholinergic Receptor, Nicotinic, Alpha Polypeptide 3¹ ²		Neuronal Acetylcholine Receptor Subunit Alpha-3²
NACHRA3² ³		Neuronal Nicotinic Acetylcholine Receptor, Alpha3 Subunit²
LNCR2² ⁵

External Ids:	HGNC: 1957¹	Entrez Gene: 1136²	Ensembl: ENSG00000080644⁷	OMIM: 118503⁵	UniProtKB: P32297³

Export aliases for CHRNA3 gene to outside databases

Previous GC identifers: GC15P074984 GC15M071975 GC15M076461 GC15M076601 GC15M076672 GC15M055642

(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 CHRNA3:

This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of

proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type

subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel

that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk

of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have

been described. (provided by RefSeq, Nov 2009)

UniProtKB/Swiss-Prot: ACHA3_HUMAN, P32297

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 CHRNA3:

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 CHRNA3

(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 CHRNA3 gene promoter:
Max1 RP58 AML1a LCR-F1 N-Myc NF-YB CBF-B CBF-A c-Myc CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CHRNA3 promoter sequence

Search SABiosciences Chromatin IP Primers for CHRNA3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHRNA3

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

CHRNA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRNA3 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M078885: view genomic region (about GC identifiers)

Start:	78,885,394 bp from pter	End:	78,913,637 bp from pter
Size:	28,244 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: ACHA3_HUMAN, P32297 (See protein sequence)

Recommended Name: Neuronal acetylcholine receptor subunit alpha-3 precursor

Size: 505 amino acids; 57480 Da

Subunit: Neuronal AChR is composed of two different types of subunits: alpha and beta. Alpha-3 subunit can be combined

to beta-2 or beta-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

Secondary accessions: Q15823 Q4KMN8 Q86U77 Q96RH3 Q99553 Q9BQ93 Q9BRR4

Alternative splicing: 3 isoforms: P32297-2 P32297-1 P32297-3

Explore the universe of human proteins at neXtProt for CHRNA3: NX_P32297

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P32297

CHRNA3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000734.2 NP_001160166.1

ENSEMBL proteins:

ENSP00000452896 ENSP00000267951 ENSP00000315602 ENSP00000453993

Reactome Protein details: P32297
Human Recombinant Protein Products for CHRNA3:

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	Browse Proteins at Uscn

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005892	acetylcholine-gated channel complex	IDA	8906617
GO:0014069	postsynaptic density	ISS	--
GO:0016021	integral to membrane	NAS	8906617
GO:0030054	cell junction	IEA	--

CHRNA3 for ontologies About GeneDecksing

CHRNA3 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

CHRNA3 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 P32297

ProtoNet protein and cluster: P32297

2 Blocks protein families:

IPB002394 Nicotinic acetylcholine receptor signature

IPB006201 Neurotransmitter-gated ion-channel

UniProtKB/Swiss-Prot: ACHA3_HUMAN, P32297

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

Alpha-3/CHRNA3 sub-subfamily

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: ACHA3_HUMAN, P32297

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 CHRNA3:

cholinergic receptor,nicotinic,alpha 3 polypeptide,neuronal

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004889	acetylcholine-activated cation-selective channel activity	TAS	--
GO:0005515	protein binding	--	--
GO:0015276	ligand-gated ion channel activity	TAS	--
GO:0015464	acetylcholine receptor activity	IDA	8906617
GO:0042166	acetylcholine binding	IC	8906617

CHRNA3 for ontologies About GeneDecksing

Phenotypes:
11 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Chrna3):

behavior/neurological	digestive/alimentary	growth/size	homeostasis/metabolism	immune system
mortality/aging	muscle	nervous system	no phenotypic analysis	renal/urinary system
vision/eye

CHRNA3 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Chrna3^tm1Bay for CHRNA3

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CHRNA3

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA3

(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

Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

1.00

Nicotine Activity on Dopaminergic Neurons

0.44

Calcium channels

Calcium channels

1.00

Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)

Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CHRNA3

Calcium channels

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHRNA3

	eNOS Signaling
	Intracellular Calcium Signaling

2 BioSystems Pathways for CHRNA3

	Nicotine Activity on Dopaminergic Neurons
	Nicotine Activity on Chromaffin Cells

5/10 Reactome Pathways for CHRNA3 (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 CHRNA3

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

2 Kegg Pathways (Kegg details for CHRNA3):

	Neuroactive ligand-receptor interaction
	Cholinergic synapse

CHRNA3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CHRNA3

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

5/17 Interacting proteins for CHRNA3 (P32297³ ENSP00000315602⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBQLN1	Q9UMX0³, ENSP00000365576⁴	I2D: score=1 STRING: ENSP00000365576
CHRNB4	P30926³, ENSP00000261751⁴	I2D: score=1 STRING: ENSP00000261751
CHRNA2	ENSP00000240132⁴	STRING: ENSP00000240132
CHRNA4	ENSP00000359285⁴	STRING: ENSP00000359285
CHRNA7	ENSP00000303727⁴	STRING: ENSP00000303727

About this table

Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006811	ion transport	NAS	8906617
GO:0006937	regulation of muscle contraction	--	--
GO:0006940	regulation of smooth muscle contraction	ISS	--
GO:0007165	signal transduction	IDA	8906617
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	ISS	--

CHRNA3 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

CHRNA3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for CHRNA3 available from Tocris Bioscience About this table

Compound	Action	CAS #
(�)-Anatoxin A fumarate	Nicotinic agonist	[64285-06-9]
alpha-Conotoxin AuIB	Selective alpha3beta4 nAChR antagonist	[216299-21-7]
alpha-Conotoxin MII	Potent alpha3beta2 and beta3 subunit selective nicotinic antagonist	--
(�)-Epibatidine	Very potent nicotinic agonist	[140111-52-0]
alpha-Conotoxin PnIA	Selective alpha3beta2 nAChR antagonist	[705300-84-1]

7 DrugBank Compounds for CHRNA3 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Levamisole	dl-Tetramisol (see all 7)	14769-73-4	target	agonist	19668355 15280391 17139284 17016423 17314321 17629760 10592235
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
Bupropion	Amfebutamone (see all 2)	34841-39-9	target	antagonist	10991997 9862757
Levomethadyl Acetate	1-alpha-acetylmethadol (see all 9)	1477-40-3	target	antagonist	11561100
Pentolinium	Pentolinium tartrate (see all 3)	52-62-0	target	antagonist	7761270
Varenicline	CP-526,555 (see all 2)	249296-44-4	target	partial agonist	16766716

2 Novoseek chemical compound relationships for CHRNA3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nicotine	55.2	2	19698703 (1), 12594236 (1)
acetylcholine	44.2	2	12405606 (1), 19628475 (1)

1 PharmGKB related drug/compound annotation for CHRNA3 gene About this table

Drug/compound	PharmGKB Annotation
Drugs used in nicotine dependence	CA

Search CenterWatch for drugs/clinical trials and news about CHRNA3 / ACHA3

(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,
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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 CHRNA3 gene (2 alternative transcripts):

NM_000743.4 NM_001166694.1

Unigene Cluster for CHRNA3:

Cholinergic receptor, nicotinic, alpha 3 (neuronal)

Hs.89605 [show with all ESTs]

Unigene Representative Sequence: NM_000743

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

ENST00000559002(uc010blg.2) ENST00000559658 ENST00000348639(uc002beb.3 uc002bea.3)

ENST00000326828(uc002bec.3) ENST00000558903 ENST00000561128 ENST00000559080

ENST00000559941

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Additional cDNA sequence:

AF385584.1 AJ584707.1 AJ584708.1 AJ584709.1 AK298195.1 AK303376.1 BC000513.2 BC001642.2

BC002996.1 BC006114.1 BC098443.1 BT006646.1 BT006897.1 M37981.1 NR_046313.1 U62432.1

X53559.1 Y08418.1

5 DOTS entries:

DT.207840 DT.100748121 DT.100748120 DT.100020946 DT.40287580

24/82 AceView cDNA sequences (see all 82):

BE382752 BU730104 BM698388 BI195946 BC006114 AJ584707 BP341887 BM666615

AJ584708 X53559 AW183452 BU736141 BM703674 BQ889957 BE383379 BF206269

BM701767 BM708713 CK003536 CA393749 Y08418 BC001642 BT006646 BM803014

GeneLoc Exon Structure

(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

CHRNA3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACTACACTT

About this image

CHRNA3 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Hindgut

Hindgut Endoderm Cells

Endoderm

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Eye

Gut Tube

Gut Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CHRNA3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHRNA3

SOURCE GeneReport for Unigene cluster: Hs.89605

SABiosciences Expression via Pathway-Focused PCR Array including CHRNA3:

Neurotransmitter Receptors in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA3

(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 CHRNA3 gene from 4/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
chicken (Gallus gallus)	Aves	CHRNA3¹	cholinergic receptor, nicotinic, alpha 3	75.82(n) 83.4(a)	386578 NM_204416.1 NP_989747.1
zebrafish (Danio rerio)	Actinopterygii	LOC568467¹	neuronal acetylcholine receptor subunit alpha-3-like	70.46(n) 75.36(a)	568467 XM_001921279.1 XP_001921314.1
fruit fly (Drosophila melanogaster)	Insecta	nAcRalpha-96Aa³ nAcRalpha-80B¹	nicotinic acetylcholine-activated cation-selective more³ nicotinic Acetylcholine Receptor alpha 80B¹	55(a) (best of 7)³ 53.29(n)¹ 48.9(a)¹	40521¹ NM_001104199.3¹ NP_001097669.2¹
worm (Caenorhabditis elegans)	Secernentea	unc-38³	ligand-gated ionic channel	42(a) (best of 27)	I(4897693-4900902) --

ENSEMBL Gene Tree for CHRNA3 (if available)
TreeFam Gene Tree for CHRNA3 (if available)

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

Paralogs for CHRNA3 gene

CHRNA5² CHRNA2² CHRNA1² CHRNA6² CHRNA7² CHRNE² CHRNB4² CHRNA4²

CHRNA10² CHRNA9² CHRNB2² CHRNG² CHRFAM7A² CHRNB3² CHRNB1² CHRND²

18 SIMAP similar genes for CHRNA3 using alignment to 4 protein entries: ACHA3_HUMAN (see all proteins):

CHRNA6 CHRNA5 CHRNA2 CHRNB4 CHRNA1 CHRNA7-2

CHRNB2 CHRNB3 CHRNA4 CHRNB1 CHRNA7 CHRNA9

CHRND CHRNE CHRFAM7A CHRNA10 CHRNG HTR3A

CHRNA3 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

UniProtKB/Swiss-Prot: ACHA3_HUMAN, P32297

Polymorphism: Genetic variations in CHRNA3 have been associated with susceptibility to smoking-related behavioral

traits and lung cancer, contributing to the smoking quantitative trait locus 3 (SQTL3) [MIM:612052]

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
				--	--	--		--	--
rs114782151^1,2	C,F	--	55642273(+)	`TCTATC/TAAAAT`	1	--	int¹		2		WA NA	238
rs67529014^1,2	C,F	--	55642458(+)	`TGTTTG/CTTATA`	1	--	int¹		3		EU NA	1996
rs76450138^1,2	C	--	55642836(+)	`ATCCAT/CTTGAA`	1	--	ut3¹		1		EA	120
rs142884378^1,2	C	--	55642961(+)	`TAATAC/GTAATT`	1	--	ut3¹		0	--	--	--	--
rs73463098^1,2	C	--	55643001(+)	`CTGTGC/TTGGAG`	1	--	ut3¹		2		WA	120
rs111954931^1,2	C	--	55643194(+)	`TGGCCA/GGGCAC`	1	--	ut3¹		1		CSA	1
rs8192483^1,2	C	--	55643238(-)	`CACCTC/TGACCT`	1	--	ut3¹		1		EU	378
rs55783657^1,2	C,F	--	55643247(+)	`TGGGCG/ATATCA`	1	--	ut3¹		3		EU NA	1164
rs8192482^1,2	C,F	--	55643287(-)	`TCCACG/ATTGGT`	1	--	ut3¹		3		EU NA	1114
rs79181680^1,2	C,F	--	55643288(+)	`CCAACA/G/TTGGAG`	2	--	ut3¹		1		NA	834

HapMap Linkage Disequilibrium report for CHRNA3 (78885394 - 78913637 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CHRNA3: --
Human Gene Mutation Database (HGMD): CHRNA3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHRNA3

DNA2.0 Custom Variant and Variant Library Synthesis for CHRNA3

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

CHRNA3 for disorders           About GeneDecksing

OMIM gene information: 118503
OMIM disorders: 612052
20 diseases for CHRNA3:    About MalaCards

megacystis-microcolon-intestinal hypoperistalsis syndrome lung cancer adenomatous polyposis coli cannabis abuse

neuronitis chronic obstructive pulmonary disease nicotine dependence squamous cell carcinoma

lung cancer susceptibility lung squamous cell carcinoma lateral sclerosis pulmonary disease

polyposis down syndrome emphysema alzheimer's disease

pharyngitis carcinoma cerebritis schizophrenia

4 diseases from the University of Copenhagen DISEASES database for CHRNA3:

Nicotine dependence Lung cancer Cocaine dependence Chronic obstructive pulmonary disease

1 Novoseek disease relationship for CHRNA3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
megacystis-microcolon-intestinal hypoperistalsis syndrome	83.4	1	11487544 (1)

Genetic Association Database (GAD): CHRNA3
Human Genome Epidemiology (HuGE) Navigator: CHRNA3 (73 documents)

Export disorders for CHRNA3 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 CHRNA3 gene, integrated from 9 sources (see all 183):
(articles sorted by number of sources associating them with CHRNA3)

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

The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3). (PubMed id 9921897)^{1, 2, 9} Rempel N.... Steinlein O.K. (1998)
Association of novel and established polymorphisms in neuronal nicotinic acetylcholine receptors with sporadic Alzheimer's disease. (PubMed id 12214130)^{1, 4, 9} Kawamata J. and Shimohama S. (2002)
A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. (PubMed id 18385738)^{1, 2} Hung R.J....Brennan P. (2008)
Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1. (PubMed id 18385676)^{1, 2} Amos C.I.... Houlston R.S. (2008)
A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. (PubMed id 18385739)^{1, 2} Thorgeirsson T.E.... Stefansson K. (2008)
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)
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)
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)

(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: 1136	HGNC: 1957	AceView: CHRNA3	Ensembl:ENSG00000080644	euGenes: HUgn1136
ECgene: CHRNA3	Kegg: 1136	H-InvDB: CHRNA3

(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 CHRNA3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CHRNA3 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 CHRNA3 gene:
Search GeneIP for patents involving CHRNA3

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

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cholinergic receptor, nicotinic, alpha 3 (neuronal)

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CHRNA3 Gene

cholinergic receptor, nicotinic, alpha 3 (neuronal)

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