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Aliases & Descriptions for CHRNA4
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| BFNC 1, 2 | | EBN 2 | | EBN1 2 | | ENFL1 5 | | FLJ95812 2 | | NACHR 2 | | NACHRA4 2 | | NACRA4 2, 3 |
| | | Descriptions |
|---|
| cholinergic receptor, nicotinic, alpha 4 2 | | cholinergic receptor, nicotinic, alpha 4 subunit 2 | | cholinergic receptor, nicotinic, alpha polypeptide 4 1, 2 | | neuronal nicotinic acetylcholine receptor alpha-4 subunit 2 |
|
| | Search outside databases for aliases for CHRNA4 genePrevious GC identifers: GC20U990005 GC20M061813 GC20M062655 GC20M062702 |
Summaries for CHRNA4(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for CHRNA4: This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. [provided by RefSeq] UniProtKB/Swiss-Prot: ACHA4_HUMAN, P43681Function: 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 membraneGene Wiki entry for CHRNA4 |
Genomic Location for CHRNA4
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the CHRNA4 gene 
Entrez Gene cytogenetic band: 20q13.2-q13.3 Ensembl cytogenetic band: 20q13.33 HGNC chromosome: 20CHRNA4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20M061446:
(about GC identifiers)
Start:
|
61,445,109 bp from pter |
End:
|
61,463,192 bp from pter |
Size:
|
18,084 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000020.9 NT_011333.5
| Proteins for CHRNA4
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: ACHA4_HUMAN, P43681 (See
protein sequence)Recommended Name: Neuronal acetylcholine receptor subunit alpha-4 precursor Size: 627 amino acids; 69957 Da
Subunit: Neuronal AChR is composed of two different types of subunits: alpha and beta. Alpha-4 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
PDB structures from and Proteopedia :2GVT (3D)
 
Secondary accessions: Q4JGR7 Q4VAQ6Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000735.1
ENSEMBL proteins: ENSP00000359285 ENSP00000359280
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5/8 Gene Ontology (GO) cellular component terms (links to tree view) (see all 8
): About this table
Antibodies for CHRNA4: Assays for CHRNA4: | Protein
Domains/ Families for CHRNA4(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P43681
ProtoNet protein and cluster: P43681 2 Blocks protein families: IPB002394 Nicotinic acetylcholine receptor signature IPB006201 Neurotransmitter-gated ion-channel
UniProtKB/Swiss-Prot: ACHA4_HUMAN, P43681Similarity: Belongs to the ligand-gated ionic channel (TC 1.A.9) family | Gene Function for CHRNA4
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000744
Applied Biosystems Silencer® siRNAs for CHRNA4
Sigma-Aldrich siRNA and siRNA Panels for CHRNA4  Sigma-Aldrich shRNA Panels and shRNA for CHRNA4  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000744                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000744                                  untagged cDNA clone in CMV expression vector: NM_000744 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000744
UniProtKB/Swiss-Prot: ACHA4_HUMAN, P43681Function: 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 membraneGenatlas biochemistry entry for CHRNA4:cholinergic receptor,nicotinic,alpha 4 polypeptide,neuronal5 MGI mutant phenotypes (inferred from 9 alleles ) (MGI details for Chrna4):
4 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004889 | nicotinic acetylcholine-activated cation-selective channel activity |
IDA | 8906617 | | GO:0005216 | ion channel activity |
IEA | -- | | GO:0005230 | extracellular ligand-gated ion channel activity |
IEA | -- | | GO:0015464 | acetylcholine receptor activity |
IDA | 8906617 | About this table | Pathways & Interactions for CHRNA4
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
1 Sigma-Aldrich "Your Favorite Gene" Pathway for CHRNA4 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for CHRNA4 
--5/15 Gene Ontology (GO) biological process terms (links to tree view) (see all 15
): About this table
|
Drugs & Compounds for CHRNA4(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  |
Enzo Life Sciences drugs & compounds for CHRNA4 |
Compounds for CHRNA4 available from Tocris Bioscience About this table
3 Novoseek chemical compound relationships for CHRNA4 gene
About this table
2 PharmGKB drug compound relationships for CHRNA4 geneAbout this table
|
Transcripts for CHRNA4(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000744
Sigma-Aldrich siRNA and siRNA Panels for CHRNA4  Sigma-Aldrich shRNA Panels and shRNA for CHRNA4  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000744 REFSEQ mRNAs for CHRNA4 gene: NM_000744.5
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000744               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000744                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000744                                  untagged cDNA clone in CMV expression vector: NM_000744  Additional cDNA sequence: AK296430.1 AK314907.1 BC096290.1 BC096291.1 BC096292.1 BC096293.3 L35901.1 X87629.1 Y08421.1 6 DOTS entries: DT.120804469 DT.455403 DT.92416817 DT.120804474 DT.120804492 DT.120804482 24/30 AceView cDNA sequences (see all 30
):BM929812 R56604 BM929424 BM710937 Z40094 NM_000744 L35901 U62433 H28110 BF594703 H27913 Y08421 AI937242 BI917752 X89745 Z44054 BM666038 CB156220 X87629 H30878 X89741 R56603 AV708847 X89742
highest scoring ESTs for CHRNA4:L35901 R88602 AA985359 AV708847 BC096290 BC096291 BC096292 BC096293 BF511254 BI917752 Unigene Cluster for CHRNA4: Cholinergic receptor, nicotinic, alpha 4 Hs.10734 [show with all ESTs]Unigene Representative Sequence: NM_000744
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for CHRNA4
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | |
| SP1: | |   | |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for CHRNA4
2 Ensembl transcripts including schematic representations: ENST00000370263
ENST00000370258
|
Expression for CHRNA4
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| CHRNA4 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for CHRNA4
1 / 2 / 3 11 probe-sets matching CHRNA4 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GACCAAGCCC
SOURCE GeneReport for Unigene cluster: Hs.10734
Expression variation in blood from EXPOLDB for CHRNA4 |
Orthologs for CHRNA4
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for CHRNA4 gene from 5/10 species (see all 10
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
CHRNA41 |
-- |
cholinergic receptor, nicotinic, alpha 4 |
88.17(n) 88.17(a) |
485972 XM_543097.2 XP_543097.2 |
chimpanzee (Pan troglodytes) |
CHRNA41 |
-- |
cholinergic receptor, nicotinic, alpha 4 |
98.51(n) 98.41(a) |
469999 NM_001034114.1 NP_001029286.1 |
cow (Bos taurus) |
CHRNA41 |
-- |
cholinergic receptor, nicotinic, alpha 4 |
85.92(n) 86.71(a) |
537251 XM_617408.3 XP_617408.3 |
rat (Rattus norvegicus) |
Chrna41 |
-- |
cholinergic receptor, nicotinic, alpha 4 |
83.73(n) 84.8(a) |
25590 NM_024354.1 NP_077330.1 |
mouse (Mus musculus) |
Chrna41, 5 |
2 (108.00 cM)5
|
cholinergic receptor, nicotinic, alpha polypeptide more1, 5 |
83.57(n)1 85.28(a)1 |
114381 NM_015730.41 NP_056545.31 AB0100025 AF2259125 (see all 16) |
About this table Species with no ortholog for CHRNA4
ENSEMBL Gene Tree for CHRNA4 | Paralogs for CHRNA4(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for CHRNA4 gene
- CHRNA32 CHRNA22 CHRNA12 CHRNA62
|
SNPs/Variants for CHRNA4(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for CHRNA4 (up to first 250kb)
|
Disorders & Mutations for CHRNA4
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 118504 disorders: 600513 188890 UniProtKB/Swiss-Prot: ACHA4_HUMAN, P43681
Defects in CHRNA4 are the cause of nocturnal frontal lobe epilepsy type 1 (ENFL1) [MIM:600513]; also symbolized ADNFLE. ENFL1 is an autosomal dominant epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements10/19 Novoseek disease relationships for CHRNA4 gene (see all 19
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| epilepsy frontal lobe |
96.02 |
43 |
10939581 (2), 12887446 (2), 19058950 (2), 10448807 (2) (see all 29) |
| familial benign neonatal convulsions |
92.70 |
10 |
12204289 (1), 11888238 (1), 7647781 (1), 8833159 (1) (see all 9) |
| myoclonic epilepsy juvenile |
81.22 |
2 |
17008177 (1), 9259383 (1) |
| childhood absence epilepsy |
76.31 |
2 |
17008177 (1), 9259383 (1) |
| seizures febrile |
74.36 |
6 |
12887442 (2), 10896263 (1), 17008177 (1), 11579435 (1) (see all 5) |
| epilepsy generalized |
72.61 |
4 |
16049035 (1), 16278970 (1), 17008177 (1), 11579435 (1) |
| epilepsies partial |
69.38 |
6 |
10446744 (1), 9758605 (1), 11121188 (1), 9259383 (1) (see all 5) |
| epilepsy |
68.88 |
17 |
9921897 (2), 9216991 (2), 9259280 (1), 16049035 (1) (see all 14) |
| epilepsy, idiopathic generalized |
62.43 |
2 |
9259383 (2) |
| epilepsies myoclonic |
60.85 |
1 |
17008177 (1) |
About this table
1 PharmGKB disease relationship for CHRNA4 gene
| Disease |
PharmGKB Relations |
PubMed IDs for articles supporting these relationships |
| Lung Neoplasms | FA   | 12511591 | About this table
GeneTests: CHRNA4 Nocturnal Frontal Lobe Epilepsy Human Gene Mutation Database: CHRNA4 Genetic Association Database: CHRNA4 Human Genome Epidemiology Navigator: CHRNA4 (40 documents)
|
Medical News for CHRNA4(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for CHRNA4 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/155 PubMed articles for CHRNA4 gene (see all 155
):- Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions. (PubMed id 12887442)1, 3, 6 Chou I.C....Tsai F.J. (2003)
- Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4). (PubMed id 8833159)1, 3, 4 Steinlein O.K.... Propping P. (1996)
- Association of polymorphisms in nicotinic acetylcholine receptor alpha 4 subunit gene (CHRNA4), mu-opioid receptor gene (OPRM1), and ethanol-metabolizing enzyme genes with alcoholism in Korean patients. (PubMed id 15902904)1, 3, 6 Kim S.A....Chung J.H. (2004)
- A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. (PubMed id 10563623)1, 3, 4 Hirose S.... Mitsudome A. (1999)
- A missense mutation in the neuronal nicotinic acetylcholine receptor alpha-4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. (PubMed id 7550350)1, 3, 4 Steinlein O.K.... Berkovic S.F. (1995)
- Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children. (PubMed id 16205844)1, 3, 6 Haider M.Z....Al-Bloushi M. (2005)
- Nicotinic acetylcholine receptor alpha4 subunit gene polymorphism and attention deficit hyperactivity disorder. (PubMed id 11409698)1, 3, 6 Kent L....Craddock N. (2001)
- A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. (PubMed id 14623738)1, 3, 4 Cho Y.-W.... Steinlein O.K. (2003)
- Association of novel and established polymorphisms in neuronal nicotinic acetylcholine receptors with sporadic Alzheimer's disease. (PubMed id 12214130)1, 3, 6 Kawamata J. and Shimohama S. (2002)
- Support for association between ADHD and two candidate genes: NET1 and DRD1. (PubMed id 15717291)3, 6 Bobb A.J....Rapoport J.L. (2005)
|
Search for CHRNA4
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing CHRNA4
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing CHRNA4
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CHRNA4(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=CHRNA4 | | NIEHS-SNPs | http://egp.gs.washington.edu/data/chrna4/ |
|
| | | About This Section
| --
| Services for CHRNA4(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for CHRNA4:

|
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
|