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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CHRNA2 Gene

protein-coding GIFtS: 66
GCID: GC08M027374

cholinergic receptor, nicotinic, alpha 2 (neuronal)

(Previous names: cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)...)

Explore 11 diseases affiliated with
CHRNA2 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 2 (Neuronal)¹ ²
Cholinergic Receptor, Nicotinic, Alpha Polypeptide 2 (Neuronal)¹ ²
Acetylcholine Receptor, Nicotinic, Alpha 2 (Neuronal)²
Neuronal Acetylcholine Receptor Subunit Alpha-2²

External Ids:	HGNC: 1956¹	Entrez Gene: 1135²	Ensembl: ENSG00000120903⁷	OMIM: 118502⁵	UniProtKB: Q15822³

Export aliases for CHRNA2 gene to outside databases

Previous GC identifers: GC08M027100 GC08M027823 GC08M027340 GC08M025862

(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 CHRNA2:

Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha

and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the

peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an

alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved

N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a

fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause

autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have

been associated with nicotine dependence. (provided by RefSeq, Nov 2009)

UniProtKB/Swiss-Prot: ACHA2_HUMAN, Q15822

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 CHRNA2:

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 CHRNA2

(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_000008.10 NC_018919.1 NT_167187.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CHRNA2 gene promoter:
GR PPAR-alpha GR-beta GR-alpha NF-kappaB NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CHRNA2 promoter sequence

Search SABiosciences Chromatin IP Primers for CHRNA2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHRNA2

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

Entrez Gene cytogenetic band: 8p21 Ensembl cytogenetic band: 8p21.2 HGNC cytogenetic band: 8p21

CHRNA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRNA2 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M027374: view genomic region (about GC identifiers)

Start:	27,317,278 bp from pter	End:	27,337,400 bp from pter
Size:	20,123 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: ACHA2_HUMAN, Q15822 (See protein sequence)

Recommended Name: Neuronal acetylcholine receptor subunit alpha-2 precursor

Size: 529 amino acids; 59765 Da

Subunit: Neuronal AChR seems to be composed of two different types of subunits: alpha and non-alpha (beta). Alpha-2

subunit can be combined to beta-2 or beta-4 to give rise to functional receptors

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

Multi-pass membrane protein

Secondary accessions: A8KAX3 Q9HAQ3

Explore the universe of human proteins at neXtProt for CHRNA2: NX_Q15822

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q15822

CHRNA2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000733.2

ENSEMBL proteins:

ENSP00000430612 ENSP00000429616 ENSP00000240132 ENSP00000430422 ENSP00000430856

ENSP00000429953 ENSP00000430994 ENSP00000385026

Reactome Protein details: Q15822
Human Recombinant Protein Products:

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	Novus Biologicals CHRNA2 Protein Novus Biologicals CHRNA2 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): 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:0016021	integral to membrane	NAS	8906617
GO:0030054	cell junction	IEA	--
GO:0045211	postsynaptic membrane	IEA	--

CHRNA2 for ontologies About GeneDecksing

CHRNA2 Antibody Products:

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	ThermoFisher Antibodies for CHRNA2

Assay Products for CHRNA2:

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	GenScript Custom Assay Services for CHRNA2
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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

CHRNA2 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 Q15822

ProtoNet protein and cluster: Q15822

2 Blocks protein families:

IPB002394 Nicotinic acetylcholine receptor signature

IPB006201 Neurotransmitter-gated ion-channel

UniProtKB/Swiss-Prot: ACHA2_HUMAN, Q15822

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

Alpha-2/CHRNA2 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: ACHA2_HUMAN, Q15822

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 CHRNA2:

cholinergic receptor,nicotinic,alpha 2 polypeptide,neuronal

miRNA Products:		OriGene 3'-UTR Clone: CHRNA2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHRNA2
		1 QIAGEN miScript miRNA Assays for microRNA that regulate CHRNA2:
		hsa-miR-197
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA2

Gene Ontology (GO): 3 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	IDA	8906617
GO:0015464	acetylcholine receptor activity	IDA	8906617

CHRNA2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CHRNA2:

Increased Salmonella enterica

Animal Models:
Mouse knock-out Chrna2^tm1Jbou for CHRNA2
3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Chrna2):

homeostasis/metabolism

nervous system

normal

CHRNA2 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 - 5/6 super-pathways (see all 6) 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

Calcium channels

Calcium channels

1.00

CREB Pathway

Intracellular Calcium Signaling

0.50

Nanog in Mammalian ESC Pluripotency

eNOS Signaling

0.48

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CHRNA2

Calcium channels

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHRNA2

	eNOS Signaling
	Intracellular Calcium Signaling

5/9 Reactome Pathways for CHRNA2 (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 Kegg Pathway (Kegg details for CHRNA2):

Neuroactive ligand-receptor interaction

CHRNA2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CHRNA2

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

5/15 Interacting proteins for CHRNA2 (Q15822³ ENSP00000240132⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CHRNB2	P17787³, ENSP00000357461⁴	I2D: score=2 STRING: ENSP00000357461
CHRNB4	P30926³, ENSP00000261751⁴	I2D: score=2 STRING: ENSP00000261751
CHRNA3	ENSP00000315602⁴	STRING: ENSP00000315602
CHRNA4	ENSP00000359285⁴	STRING: ENSP00000359285
CHRNA7	ENSP00000303727⁴	STRING: ENSP00000303727

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006811	ion transport	NAS	8906617
GO:0007165	signal transduction	IDA	8906617
GO:0007268	synaptic transmission	TAS	--

CHRNA2 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 CHRNA2 available from Tocris Bioscience About this table

Compound	Action	CAS #
Mecamylamine hydrochloride	Non-competitive nicotinic receptor antagonist	[826-39-1]
Carbamoylcholine chloride	Cholinergic receptor agonist	[51-83-2]
(�)-Epibatidine	Very potent nicotinic agonist	[140111-52-0]
(�)-Anatoxin A fumarate	Nicotinic agonist	[64285-06-9]

1 HMDB Compound for CHRNA2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Dextromethorphan	Bayer Select Flu Relief (see all 58)	6700-34-1	--

10/20 DrugBank Compounds for CHRNA2 (see all 20) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Tubocurarine	D-Tubocurarine (see all 6)	6989-98-6	target	antagonist	18633030 17139284 11752352 17016423 19417616 11562442 20338223
Galantamine	(-)-Galanthamine (see all 3)	357-70-0	target	allosteric modulator	12137632 11129124 12481195 20480924 12177686 10971048
Mivacurium	--	106791-40-6	target	antagonist	16931985 17139284 11752352 17016423 19352159 19417616
Rocuronium	--	119302-91-9	target	antagonist	16931985 18633030 17139284 11752352 17016423 19417616
Decamethonium	--	156-74-1	target	partial agonist	17139284 12067008 11752352 17016423 7848904
Mecamylamine	2-Methylamino-2,3,3-trimethylnorbornane (see all 6)	60-40-2	target	inhibitor	17139284 19778551 11752352 17016423 12080428
Metocurine	--	5152-30-7	target	antagonist	18633030 18842832 8132625 11752352 12799358
Metocurine Iodide	(+)-O,O'-Dimethylchondrocurarine Di-iodide (see all 8)	7601-55-0	target	antagonist	18633030 17139284 11752352 17016423 6107062
Nicotine	L-Nicotine (see all 2)	54-11-5	target	agonist	19560048 20081230 15048644 20400469 11006350
Pipecuronium	Pipecurium (see all 2)	68399-58-6	target	antagonist	1748153 11752352 17016423 12426786 9227834

Search CenterWatch for drugs/clinical trials and news about CHRNA2 / ACHA2

(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 CHRNA2 gene:

NM_000742.3

Unigene Cluster for CHRNA2:

Cholinergic receptor, nicotinic, alpha 2 (neuronal)

Hs.57718 [show with all ESTs]

Unigene Representative Sequence: NM_000742

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

ENST00000520600 ENST00000523529 ENST00000523695 ENST00000520933 ENST00000240132

ENST00000522008 ENST00000524096 ENST00000518712 ENST00000520650 ENST00000521921

ENST00000520208 ENST00000407991(uc010lur.3 uc011lal.2 uc010lus.3)

miRNA Products:		OriGene 3'-UTR Clone: CHRNA2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHRNA2
		1 QIAGEN miScript miRNA Assays for microRNA that regulate CHRNA2:
		hsa-miR-197
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHRNA2

Additional cDNA sequence:

AK296348.1 AK308465.1 AK314787.1 BC153866.1 U62431.1 Y16281.1

6 DOTS entries:

DT.404266 DT.70105134 DT.101981363 DT.101981364 DT.101981365 DT.101981366

11 AceView cDNA sequences:

CD013903 CD013902 CD013901 BQ884264 Y16281 CD013905 NM_000742 CD013904

BP362682 U62431 CF141093

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CHRNA2 (see all 8) About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	·	3c	·	3d	^	4a	·	4b	·	4c	^	5a	·	5b	·	5c	^	6	^	7a	·	7b	·	7c	^	8a	·	8b
SP1:							-								-						-
SP2:																					-
SP3:															-						-								-
SP4:															-						-								-		-		-
SP5:			-		-		-								-						-

ECgene alternative splicing isoforms for CHRNA2

(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

CHRNA2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGAATAAAGA

About this image

CHRNA2 expression in embryonic tissues and stem cells

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

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Neural Tube

Telencephalon

Neural Tube

Spinal Cord

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CHRNA2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHRNA2

SOURCE GeneReport for Unigene cluster: Hs.57718

SABiosciences Custom PCR Arrays for CHRNA2

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHRNA2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHRNA2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA2

(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 CHRNA2 gene from 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CHRNA2¹	cholinergic receptor, nicotinic, alpha 2 (neuronal) less	80.84(n) 80.63(a)		395607 NM_204815.1 NP_990146.1
lizard (Anolis carolinensis)	Reptilia	CHRNA2⁶	--	87(a)	1 ↔ 1	GL343696.1(190925-196186)
zebrafish (Danio rerio)	Actinopterygii	chrna2²	cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal) less	79.58(n)		394201 AY256908.1
fruit fly (Drosophila melanogaster)	Insecta	nAcRalpha-96Aa³ nAcRalpha-96Ab¹	nicotinic acetylcholine-activated cation-selective channel less³ nicotinic Acetylcholine Receptor alpha 96Ab¹	58(a) (best of 8)³ 58.94(n)¹ 50.33(a)¹		42919¹ NM_079758.2¹ NP_524482.1¹
worm (Caenorhabditis elegans)	Secernentea	unc-63³	ion-channel protein	48(a) (best of 28)		I(5141683-5149120) --

ENSEMBL Gene Tree for CHRNA2 (if available)
TreeFam Gene Tree for CHRNA2 (if available)

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

Paralogs for CHRNA2 gene

CHRNA5² CHRNA1² CHRNA6² CHRNA7² CHRNE² CHRNB4² CHRNA4² CHRNA10²

CHRNA9² CHRNB2² CHRNG² CHRNA3² CHRFAM7A² CHRNB3² CHRNB1² CHRND²

18/20 SIMAP similar genes for CHRNA2 using alignment to 7 protein entries: ACHA2_HUMAN (see all proteins) (see all similar genes):

CHRNA6 CHRNA5 CHRNA3 CHRNB4 CHRNA7-2 CHRNA1

HTR3A CHRNB2 CHRNB3 CHRNA4 CHRNA7 CHRND

HTR3B CHRFAM7A CHRNA9 CHRNB1 CHRNE HTR3E

CHRNA2 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)
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SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894063^1,2	C	pathogenic	25866186(-)	`GCTCAA/TCTCCT`	2	N I	mis¹		0	--	--	--	--
rs113837301^1,2	F	--	25862004(+)	`TTGGGG/TGATAA`	4	--	ds500¹		1		EA	234
rs75394008^1,2		--	25864154(+)	`GAGACG/AGTCAA`	1	--	ut3¹		1		WA	118
rs116181978^1,2	C,F,	--	25864623(+)	`GGGACG/ACAAGG`	1	--	int¹		1		WA	118
rs76651414^1,2		--	25864716(+)	`AGGTTC/GCCTCC`	1	--	int¹		0	--	--	--	--
rs80217491^1,2		--	25864820(+)	`GGGCTC/TACAGC`	1	--	int¹		1		EA	120
rs77229364^1,2		--	25864885(+)	`TTCTTG/TTCTGT`	1	--	int¹		2		CSA WA	120
rs11778371^1,2	C,F,A,H,	--	25864967(+)	`AGTAGC/TGGCCT`	1	--	int¹		15		NS EA NA	1646
rs75567745^1,2	F,	--	25864968(+)	`GTAGCG/AGCCTG`	1	--	int¹		2		WA NA	238
rs78561863^1,2	F	--	25865783(+)	`ACCTCC/TCTCTC`	2	R	syn¹		1		NA	860

HapMap Linkage Disequilibrium report for CHRNA2 (27317278 - 27337400 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CHRNA2: --
Human Gene Mutation Database (HGMD): CHRNA2

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(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.)
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CHRNA2 for disorders           About GeneDecksing

OMIM gene information: 118502
OMIM disorders: 610353
UniProtKB/Swiss-Prot: ACHA2_HUMAN, Q15822

Defects in CHRNA2 are the cause of nocturnal frontal lobe epilepsy type 4 (ENFL4) [MIM:610353]. ENFL4 is an

autosomal dominant epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and

nocturnal wandering, closely resembling nightmares and sleep walking

11 diseases for CHRNA2: About MalaCards

autosomal dominant nocturnal frontal lobe epilepsy frontal lobe epilepsy epilepsy, nocturnal, frontal lobe type epilepsy, nocturnal frontal lobe, type 4

nicotine dependence neuronitis bipolar i disorder drug dependence

pharyngitis obesity schizophrenia

2 diseases from the University of Copenhagen DISEASES database for CHRNA2:

Nicotine dependence Focal epilepsy

3 Novoseek disease relationships for CHRNA2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
epilepsy frontal lobe	92.4	4	17602836 (1), 19058950 (1), 18226955 (1)
sleepwalking	80.4	1	17602836 (1)
epilepsy	34.6	2	16826524 (1), 19383498 (1)

GeneTests: CHRNA2

Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

Genetic Association Database (GAD): CHRNA2
Human Genome Epidemiology (HuGE) Navigator: CHRNA2 (22 documents)

Export disorders for CHRNA2 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 CHRNA2 gene, integrated from 9 sources (see all 80):
(articles sorted by number of sources associating them with CHRNA2)

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Increased sensitivity of the neuronal nicotinic receptor alpha2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. (PubMed id 16826524)^{1, 2, 9} Aridon P.... Casari G. (2006)
DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)^{1, 2} Nusbaum C....Lander E.S. (2006)
No association between common variations in the neuronal nicotinic acetylcholine receptor alpha2 subunit gene (CHRNA2) and bipolar I disorder. (PubMed id 15996750)^{1, 4} Lohoff F.W....Berrettini W.H. (2005)
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)
Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans. (PubMed id 1505988)^{1, 3} Anand R. and Lindstrom J. (1992)
CHRNA2 mutations are rare in the NFLE population: Evaluation of a large cohort of Italian patients. (PubMed id 18226955)^{1, 9} Combi R....Luisa Tenchini M. (2008)
A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. (PubMed id 17602836)^{1, 9} Gu W....Steinlein O.K. (2007)
A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. (PubMed id 19058950)^{1, 9} Chen Y....Xu Q. (2009)
Identification of the human neuronal nicotinic cholinergic alpha 2 receptor locus, (CHRNA2), within an 8p21 mapped locus, by sequence homology with rat DNA. (PubMed id 7570187)^{1, 9} Wood S....Yaremko M.L. (1995)
Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene. (PubMed id 19383498)^{1, 9} Hoda J.C....Steinlein O.K. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1135	HGNC: 1956	AceView: CHRNA2	Ensembl:ENSG00000120903	euGenes: HUgn1135
ECgene: CHRNA2	Kegg: 1135	H-InvDB: CHRNA2

(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)
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Name	Description
PharmGKB entry for CHRNA2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRNA2

Intellectual Property for CHRNA2 gene
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Patent Information for CHRNA2 gene:
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GeneCards and IP:
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CHRNA2 Gene

cholinergic receptor, nicotinic, alpha 2 (neuronal)

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CHRNA2 Gene

cholinergic receptor, nicotinic, alpha 2 (neuronal)

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