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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CHRNA5 Gene

protein-coding GIFtS: 62
GCID: GC15P078857

cholinergic receptor, nicotinic, alpha 5 (neuronal)

(Previous names: cholinergic receptor, nicotinic, alpha polypeptide 5 )

Explore 26 diseases affiliated with
CHRNA5 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 5 (Neuronal)¹ ²		Cholinergic Receptor, Neuronal Nicotinic, Alpha Polypeptide-5²
LNCR2² ⁵		Neuronal Acetylcholine Receptor Subunit Alpha-5²
Cholinergic Receptor, Nicotinic, Alpha Polypeptide 5¹		Neuronal Nicotinic Acetylcholine Receptor, Alpha5 Subunit²
Acetylcholine Receptor, Nicotinic, Alpha 5 (Neuronal)²		NACHRA5³

External Ids:	HGNC: 1959¹	Entrez Gene: 1138²	Ensembl: ENSG00000169684⁷	OMIM: 118505⁵	UniProtKB: P30532³

Export aliases for CHRNA5 gene to outside databases

Previous GC identifers: GC15P074936 GC15P071947 GC15P076433 GC15P076573 GC15P076644 GC15P055614

(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 CHRNA5:

The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of

ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be

heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to

lung cancer type 2 (LNCR2).(provided by RefSeq, Jun 2010)

UniProtKB/Swiss-Prot: ACHA5_HUMAN, P30532

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 CHRNA5:

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 CHRNA5

(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 CHRNA5 gene promoter:
MAZR Pax-6 MyoD POU3F2 Evi-1 RORalpha1 PPAR-gamma1 IRF-7A PPAR-gamma2 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CHRNA5 promoter sequence

Search SABiosciences Chromatin IP Primers for CHRNA5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHRNA5

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

CHRNA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRNA5 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P078857: view genomic region (about GC identifiers)

Start:	78,857,862 bp from pter	End:	78,887,611 bp from pter
Size:	29,750 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: ACHA5_HUMAN, P30532 (See protein sequence)

Recommended Name: Neuronal acetylcholine receptor subunit alpha-5 precursor

Size: 468 amino acids; 53054 Da

Subunit: Neuronal AChR seems to be composed of two different type of subunits: alpha and non-alpha (beta)

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

Multi-pass membrane protein

Secondary accessions: Q15824 Q99554

Explore the universe of human proteins at neXtProt for CHRNA5: NX_P30532

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P30532

CHRNA5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000736.2

ENSEMBL proteins:

ENSP00000299565 ENSP00000453519 ENSP00000378281 ENSP00000452641

Reactome Protein details: P30532
Human Recombinant Protein Products:

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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:0005892	acetylcholine-gated channel complex	IC	1542648
GO:0016021	integral to membrane	--	--
GO:0030054	cell junction	IEA	--
GO:0030425	dendrite	--	--

CHRNA5 for ontologies About GeneDecksing

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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

CHRNA5 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 P30532

ProtoNet protein and cluster: P30532

2 Blocks protein families:

IPB002394 Nicotinic acetylcholine receptor signature

IPB006201 Neurotransmitter-gated ion-channel

UniProtKB/Swiss-Prot: ACHA5_HUMAN, P30532

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

Alpha-5/CHRNA5 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: ACHA5_HUMAN, P30532

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 CHRNA5:

cholinergic receptor,nicotinic,alpha 5 polypeptide,neuronal

miRNA Products:		OriGene 3'-UTR Clone: CHRNA5 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHRNA5
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate CHRNA5:
		hsa-miR-3671 hsa-miR-607 hsa-miR-212 hsa-miR-132
		SwitchGear 3'UTR luciferase reporter plasmid: CHRNA5 3' UTR sequence

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CHRNA5 (see all 7) OriGene shRNA RFP: CHRNA5 OriGene siRNA: CHRNA5
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA5

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:0004872	receptor activity	--	--
GO:0004889	acetylcholine-activated cation-selective channel activity	TAS	--
GO:0015276	ligand-gated ion channel activity	TAS	--
GO:0015464	acetylcholine receptor activity	IDA	1542648
GO:0042166	acetylcholine binding	--	--

CHRNA5 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for CHRNA5:

G0/1 arrest

Increased G1 DNA content

Animal Models:
Mouse knock-out Chrna5^tm1Mdb for CHRNA5
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Chrna5):

behavior/neurological

nervous system

CHRNA5 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 - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Presynaptic nicotinic acetylcholine receptors

Presynaptic nicotinic acetylcholine receptors	1.00	Acetylcholine Binding And Downstream Events	0.86
Activation of Nicotinic Acetylcholine Receptors	0.86	Highly calcium permeable nicotinic acetylcholine receptors	0.75
Postsynaptic nicotinic acetylcholine receptors	0.86	Highly calcium permeable postsynaptic nicotinic acetylcholine receptors	0.64

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

CREB Pathway

Intracellular Calcium Signaling

0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CHRNA5

Calcium channels

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHRNA5

	eNOS Signaling
	Intracellular Calcium Signaling

1 BioSystems Pathway for CHRNA5

Nicotine Activity on Dopaminergic Neurons

5/9 Reactome Pathways for CHRNA5 (see all 9)

	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

1 PharmGKB Pathway for CHRNA5

Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

1 Kegg Pathway (Kegg details for CHRNA5):

Neuroactive ligand-receptor interaction

CHRNA5 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CHRNA5

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

5/16 Interacting proteins for CHRNA5 (P30532³ ENSP00000299565⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 16)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CHRNB4	P30926³, ENSP00000261751⁴	I2D: score=1 STRING: ENSP00000261751
CHRNA2	ENSP00000240132⁴	STRING: ENSP00000240132
CHRNA3	ENSP00000315602⁴	STRING: ENSP00000315602
CHRNA4	ENSP00000359285⁴	STRING: ENSP00000359285
CHRNA6	ENSP00000276410⁴	STRING: ENSP00000276410

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	NAS	1542648
GO:0007165	signal transduction	NAS	9009220
GO:0007268	synaptic transmission	TAS	--
GO:0035094	response to nicotine	--	--
GO:0035095	behavioral response to nicotine	IMP	18227835

CHRNA5 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

CHRNA5 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for CHRNA5 available from Tocris Bioscience About this table

Compound	Action	CAS #
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]

2 DrugBank Compounds for CHRNA5 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

2 PharmGKB related drug/compound annotations for CHRNA5 gene

Drug/compound	PharmGKB Annotation
Drugs used in nicotine dependence	CA
nicotine	CA

About this table

Search CenterWatch for drugs/clinical trials and news about CHRNA5 / ACHA5

(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 CHRNA5 gene:

NM_000745.3

Unigene Clusters for CHRNA5:

Cholinergic receptor, nicotinic, alpha 5 (neuronal)

Hs.1614 [show with all ESTs], Hs.719767

Unigene Representative Sequences: NM_000745, BC050469

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

ENST00000299565(uc002bdy.3) ENST00000559554 ENST00000394802 ENST00000559576

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHRNA5
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		hsa-miR-3671 hsa-miR-607 hsa-miR-212 hsa-miR-132
		SwitchGear 3'UTR luciferase reporter plasmid: CHRNA5 3' UTR sequence

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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHRNA5 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHRNA5 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Additional cDNA sequence: BC050469.1

5 DOTS entries:

DT.207840 DT.91747812 DT.209236 DT.91693580 DT.100020946

24/41 AceView cDNA sequences (see all 41):

AJ584706 Y08419 BG291447 BM839817 BU623054 BC033639 CR619227 BG291359

U62434 BQ723048 AF385586 BU629603 BX332469 BX107344 NM_000745 R15044

CA411814 AI582813 AU076497 M83712 AJ584705 BC050469 BF793290 BM542487

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

CHRNA5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTAGCAGGCG

About this image

CHRNA5 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Neural Tube

Metencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CHRNA5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHRNA5

SOURCE GeneReport for Unigene clusters: Hs.1614 Hs.719767

SABiosciences Expression via Pathway-Focused PCR Array including CHRNA5:

Neurotransmitter Receptors in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA5

(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 CHRNA5 gene from 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
chicken (Gallus gallus)	Aves	CHRNA5¹	cholinergic receptor, nicotinic, alpha 5	79.53(n) 85.55(a)	386577 NM_204415.1 NP_989746.1
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.13533²	Transcribed sequence with moderate similarity to protein more	77(n)	BX730174.1
zebrafish (Danio rerio)	Actinopterygii	chrna5¹	cholinergic receptor, nicotinic, alpha 5	69.29(n) 77.14(a)	550584 NM_001017885.1 NP_001017885.1
fruit fly (Drosophila melanogaster)	Insecta	nAcRalpha-96Aa³	nicotinic acetylcholine-activated cation-selective more	50(a) (best of 6)	--
worm (Caenorhabditis elegans)	Secernentea	unc-63³	ion-channel protein	43(a) (best of 5)	I(5141683-5149120) --

ENSEMBL Gene Tree for CHRNA5 (if available)
TreeFam Gene Tree for CHRNA5 (if available)

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

Paralogs for CHRNA5 gene

CHRNA2² CHRNA1² CHRNA6² CHRNA7² CHRNE² CHRNB4² CHRNA4² CHRNA10²

CHRNA9² CHRNB2² CHRNG² CHRNA3² CHRFAM7A² CHRNB1² CHRNB3² CHRND²

18/21 SIMAP similar genes for CHRNA5 using alignment to 5 protein entries: ACHA5_HUMAN (see all proteins) (see all similar genes):

CHRNB3 CHRNA4 CHRNA6 CHRNB4 CHRNA2 CHRNA3

CHRNA1 CHRNA10 CHRNA7-2 CHRNB1 CHRND CHRNG

CHRNB2 CHRNA9 CHRNE CHRNA7 GLRA3 HTR3E

CHRNA5 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: ACHA5_HUMAN, P30532

Polymorphism: Genetic variations in CHRNA5 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
				--	--	--		--	--
rs16969968^1,2	C,F,H,	other	55640013(+)	`CGCTCG/AATTCT`	2	/N /D	mis¹ ese³		29		NA NS EA EU	10463
rs183096200^1,2	C,	--	55613475(+)	`ATTCAA/GCTCCT`	1	--	us2k¹		0	--	--	--	--
rs72648882^1,2	F	--	55614628(+)	`GACTAG/TGCCAA`	1	--	us2k¹		1		EU	1108
rs56182392^1,2	C,F,	--	55614946(+)	`AGCCCG/ACCAGA`	1	--	ut5¹		1		EU	362
rs77293642^1,2	C	--	55614980(+)	`CCCGGC/TGGGAG`	1	--	ut5¹		0	--	--	--	--
rs55853698^1,2	C,F,	--	55615006(+)	`GCCCCT/GCTGCT`	1	--	ut5¹		2		EU NA	468
rs55781567^1,2	C,F,	--	55615053(+)	`GTGCTC/GCATTC`	1	--	ut5¹		5		EU CSA WA NA EA	722
rs12903524^1,2	C	--	55615298(+)	`CCCAGG/TAAGCC`	1	--	int¹		1		NA	2
rs72648893^1,2	F	--	55615343(+)	`GGGGAG/AGTGGG`	1	--	int¹		1		EU	1082
rs871058^1,2	C,F,	--	55615558(+)	`TCCTGG/ATGGCA`	1	--	int¹		13		NA EA MN	797

HapMap Linkage Disequilibrium report for CHRNA5 (78857862 - 78887611 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CHRNA5: --
Human Gene Mutation Database (HGMD): CHRNA5

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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

CHRNA5 for disorders           About GeneDecksing

OMIM gene information: 118505
OMIM disorders: 612052
20/26 diseases for CHRNA5 (see all 26):    About MalaCards

neuronitis autosomal dominant nocturnal frontal lobe epilepsy frontal lobe epilepsy lung cancer

cannabis dependence chronic obstructive pulmonary disease nicotine dependence cocaine dependence

substance dependence lung cancer susceptibility 2 lung cancer susceptibility alcohol dependence

pulmonary disease copd narcolepsy lung adenocarcinoma

alcoholism twinning gastric cancer pharyngitis

4 diseases from the University of Copenhagen DISEASES database for CHRNA5:

Nicotine dependence Lung cancer Cocaine dependence Chronic obstructive pulmonary disease

Human Genome Epidemiology (HuGE) Navigator: CHRNA5 (84 documents)

Export disorders for CHRNA5 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 CHRNA5 gene, integrated from 9 sources (see all 154):
(articles sorted by number of sources associating them with CHRNA5)

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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)
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)
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 alpha-bungarotoxin receptors and the alpha 5-nicotinic receptor subunit gene are expressed in neuronal and nonneuronal human cell lines. (PubMed id 1542648)^{1, 2} Chini B.... Sher E. (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)
Association of a single nucleotide polymorphism in neuronal acetylcholine receptor subunit alpha 5 (CHRNA5) with smoking status and with 'pleasurable buzz' during early experimentation with smoking. (PubMed id 18783506)^{1, 9} Sherva R....Pomerleau O.F. (2008)
A Risk Allele for Nicotine Dependence in CHRNA5 Is a Protective Allele for Cocaine Dependence. (PubMed id 18519132)^{1, 9} Grucza R.A....Bierut L.J. (2008)
Smoking Cessation and Variations in Nicotinic Acetylcholine Receptor Subunits alpha-5, alpha-3, and beta-4 Genes. (PubMed id 18996504)^{1, 9} Breitling L.P....Brenner H. (2008)

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

Entrez Gene: 1138	HGNC: 1959	AceView: CHRNA5	Ensembl:ENSG00000169684	euGenes: HUgn1138
ECgene: CHRNA5	Kegg: 1138	H-InvDB: CHRNA5

(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 CHRNA5	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CHRNA5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CHRNA5 gene:
Search GeneIP for patents involving CHRNA5

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 5 (neuronal)

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cholinergic receptor, nicotinic, alpha 5 (neuronal)

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