CHRNA4 Gene
protein-coding GIFtS: 67
GCID: GC20M061974
|
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)(Previous names: cholinergic receptor, nicotinic, alpha polypeptide 4 )
(Previous symbols: EBN, EBN1)
| |
Aliases
for CHRNA4 gene
(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 4 (Neuronal)1 2 | | NACHR2 | | BFNC1 2 | | NACHRA42 | | EBN1 2 | | Neuronal Acetylcholine Receptor Subunit Alpha-42 | | EBN11 2 | | Neuronal Nicotinic Acetylcholine Receptor Alpha-4 Subunit2 | | Cholinergic Receptor, Nicotinic, Alpha Polypeptide 41 2 | | ENFL15 | | NACRA42 3 | | |
Export aliases for CHRNA4 gene to outside databasesPrevious GC identifers: GC20U990005 GC20M061813 GC20M062655 GC20M062702 GC20M061446 GC20M058700 |
Summaries
for CHRNA4 gene(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 CHRNA4:
This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels thatplay a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causesan 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 toform a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in thisgene that provide protection against nicotine addiction have been described. Alternative splicing results in multipletranscript variants. (provided by RefSeq, Feb 2012)
UniProtKB/Swiss-Prot: ACHA4_HUMAN, P43681Function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects allsubunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodium ions
 summary
for CHRNA4: Nicotinic alpha4beta2 receptors have high affinity for nicotine and account for >90% of [3H]-nicotine
binding to brain tissues. A stoichiometry of (alpha4)2(beta2)3 has been proposed, generating two agonist
binding sites consistent with the model of the muscle nAChR. Manipulation of the stoichiometry of
alpha4beta2 nAChRs expressed in Xenopus oocytes indicates that (alpha4)3(beta2)2 nAChRs are also viable,
displaying lower affinity for ACh and higher Ca2+ permeability; whether native nAChRs with this subunit
stoichiometry exist is not known. Transgenic knockout of either of these subunits eliminates nicotine self
administration, whereas virally targeted re-expression of the beta2 subunit in mesolimbic areas of beta2
knockout mice recovers this behavior, implicating a role for alpha4beta2 nAChRs in nicotine addiction.
alpha4beta2 nAChRs are highly expressed in the thalamus and have been suggested to have a putative role in
the thalamo-cortical circuitry . As a consequence of their putative role in thalamo-cortical circuitry, gain
of function mutations in the M2 domain of either the alpha4 or beta2 subunit give rise to some forms of
autosomal dominant nocturnal frontal lobe epilepsy. The human genes encoding the nicotinic alpha4 and beta2
receptor subunits have been localized to chromosomes 13 (q13.2-q13.3) and 1 (1q21.3) respectively.
Gene Wiki entry for CHRNA4
|
Genomic Views
for CHRNA4 gene
(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_000020.10 NC_018931.1 NT_011333.6
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CHRNA4 gene promoter:
CREB p53 NRSF form 1 NRSF form 2 GATA-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for CHRNA4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHRNA4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
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 information about chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20M061974: view genomic region
(about GC identifiers)
Start:
|
61,974,665 bp from pter |
End:
|
62,009,753 bp from pter |
Size:
|
35,089 bases |
Orientation:
|
minus strand |
|
Proteins
for CHRNA4 gene
(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: 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 combinedto beta-2 or beta-4 to give rise to functional receptors, complexes with beta-2 may be heteropentamers. Interacts withRIC3; 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. Cell membrane; Lipid-anchor (By similarity)
2 PDB 3D structures from  and Proteopedia  for CHRNA4:2GVT (3D)
2LLY (3D)
Secondary accessions: Q4JGR7 Q4VAQ6Explore the universe of human proteins at neXtProt for CHRNA4: NX_P43681
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P43681
CHRNA4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000735.1 NP_001243502.1
ENSEMBL proteins: ENSP00000359285 ENSP00000429513 Reactome Protein details: P43681
Human Recombinant Protein Products:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
CHRNA4 for ontologies About GeneDecksing
CHRNA4 Antibody Products:
Assay Products for CHRNA4: |
Protein
Domains /
Families
for CHRNA4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CHRNA4 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P43681ProtoNet 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 ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily.Alpha-4/CHRNA4 sub-subfamily |
Function
for CHRNA4 gene
(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: ACHA4_HUMAN, P43681Function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects allsubunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodium ions Genatlas biochemistry entry for CHRNA4:cholinergic receptor,nicotinic,alpha 4 polypeptide,neuronal
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHRNA4 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHRNA4
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CHRNA4 (NM_000744) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHRNA4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHRNA4 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA4 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
CHRNA4 for ontologies About GeneDecksing
Animal Models:
Mouse knock-outs for CHRNA4: Chrna4tm1Jpc Chrna4tm1Dra Chrna4tm1.2Tmcg
7 MGI mutant phenotypes (inferred from 12 alleles ) (MGI details for Chrna4):
CHRNA4 for phenotypes About GeneDecksing
|
Pathways & Interactions
for CHRNA4 gene
(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 |
|---|
| 1 | Presynaptic nicotinic acetylcholine receptors | | | 2 | Transmission across Chemical Synapses | | | 3 | Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics | | | 4 | Calcium channels | | | 5 | SIDS Susceptibility Pathways | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for CHRNA4
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHRNA4
2  BioSystems Pathways for CHRNA4
5/10 
Reactome Pathways for CHRNA4 (see all 10)
1  PharmGKB Pathway for CHRNA4
2 
Kegg Pathways (Kegg details for CHRNA4):
CHRNA4 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHRNA4
STRING Interaction
Network Preview (showing 5 interactants - click image to see 20)
5/21 Interacting proteins for CHRNA4 (P436812, 3 ENSP000003592854) via UniProtKB, MINT, STRING, and/or I2D (see all 21)About this table
Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21): About this table
CHRNA4 for ontologies About GeneDecksing
|
Drugs & Compounds
for CHRNA4 gene(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
|
CHRNA4 for compounds About GeneDecksing
Compounds for CHRNA4 available from Tocris Bioscience About this table
10/20 DrugBank Compounds for CHRNA4 (see all 20) About this table
7 Novoseek chemical compound relationships for CHRNA4 gene About this table
1 PharmGKB related drug/compound annotation for CHRNA4 gene
| Drug/compound |
PharmGKB Annotation | | nicotine | CA | About this table
Search CenterWatch for drugs/clinical trials and news about CHRNA4 / ACHA4
|
Transcripts
for CHRNA4 gene(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 CHRNA4 gene (2 alternative transcripts): NM_000744.6 NM_001256573.1 Unigene Cluster for CHRNA4: Cholinergic receptor, nicotinic, alpha 4 (neuronal) Hs.10734 [show with all ESTs]Unigene Representative Sequence: NR_0463176 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000370263(uc010gke.1 uc002yev.1 uc002yes.2 uc010gkf.1)
ENST00000463705(uc002yet.1) ENST00000498043 ENST00000467563 ENST00000475033
ENST00000480012
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHRNA4 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHRNA4
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CHRNA4 (NM_000744) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHRNA4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHRNA4 |
Additional cDNA sequence: AK296430.1 AK314907.1 BC096290.1 BC096291.1 BC096292.1 BC096293.3 L35901.1 NR_046317.1 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): BM929424 BM929812 NM_000744 BM710937 Z40094 R56604 H30878 H28110 CB156220 L35901 H27913 X87629 X89745 Z44054 Y08421 BM666038 U62433 BI917752 AI937242 BF594703 X89741 R56603 R88602 T60328
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for CHRNA4 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b |
|---|
|
| SP1: | | | | | - | | | | | | | | | | - | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | - | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | - | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | - | | | | | | | | | |
ECgene alternative splicing isoforms for CHRNA4
|
Expression
for CHRNA4 gene
(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
| CHRNA4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACCAAGCCC
About this image
See CHRNA4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHRNA4
SOURCE GeneReport for Unigene cluster: Hs.10734
SABiosciences Expression via Pathway-Focused PCR Array including CHRNA4:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHRNA4
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CHRNA4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHRNA4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHRNA4 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA4 |
Orthologs
for CHRNA4 gene
(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 CHRNA4 gene from 5/16 species (see all 16) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
CHRNA41 |
cholinergic receptor, nicotinic, alpha 4 |
75.5(n)
77.81(a) |
|
395606 NM_204814.1 NP_990145.1 |
lizard
(Anolis carolinensis) |
Reptilia |
CHRNA46 |
-- |
73(a) |
1 ↔ 1 |
4(153723488-153823997) |
zebrafish
(Danio rerio) |
Actinopterygii |
LOC5636961 |
neuronal acetylcholine receptor subunit alpha-4-like |
66.55(n)
67.18(a) |
|
563696 XM_687056.4 XP_692148.2 |
fruit fly
(Drosophila melanogaster) |
Insecta |
nAcRalpha-96Aa3
nAcRbeta-64B1 |
nicotinic acetylcholine-activated
cation-selective more3
nicotinic Acetylcholine Receptor beta 64B1 |
58(a)
(best of 7)3
60.48(n)1
52.97(a)1 |
|
385451 NM_079203.21 NP_523927.21 |
worm
(Caenorhabditis elegans) |
Secernentea |
unc-633 |
ion-channel protein |
52(a)
(best of 24) |
|
I(5141683-5149120) -- |
ENSEMBL Gene Tree for CHRNA4 (if available)
TreeFam Gene Tree for CHRNA4 (if available) |
Paralogs
for CHRNA4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CHRNA4 gene
- CHRNA52 CHRNA22 CHRNA12 CHRNA62 CHRNA72 CHRNE2 CHRNB42 CHRNA102
- CHRNA92 CHRNB22 CHRNG2 CHRNA32 CHRFAM7A2 CHRNB32 CHRNB12 CHRND2
17 SIMAP similar genes for CHRNA4 using alignment to 7 protein entries: ACHA4_HUMAN (see all proteins):CHRNA5 CHRNB3 CHRNA1 CHRNA7-2 CHRNA9 CHRNE
CHRNA2 CHRND HTR3A CHRNA3 CHRNA7 CHRNG
CHRNA10 CHRNA6 CHRNB1 CHRFAM7A CHRNB4
CHRNA4 for paralogs About GeneDecksing
|
Genomic Variants
for CHRNA4 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 20 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CHRNA4 (61974665 - 62009753 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for CHRNA4
1 CNV: 31044
1 Indel: 41305
Human Gene Mutation Database (HGMD): CHRNA4
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHRNA4 |
|
Disorders
/ Diseases
for CHRNA4 gene
(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
|
CHRNA4 for disorders About GeneDecksing
OMIM gene information: 118504
OMIM 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]; alsosymbolized ADNFLE. ENFL1 is an autosomal dominant epilepsy characterized by nocturnal seizures with hyperkineticautomatisms and poorly organized stereotyped movements
20/39  diseases for CHRNA4 (see all 39): About MalaCardsautosomal dominant nocturnal frontal lobe epilepsy frontal lobe epilepsy nicotine addiction epilepsy, nocturnal frontal lobe, 1
attention deficit hyperactivity disorder childhood absence epilepsy absence epilepsy patent ductus arteriosus
lewy body dementia juvenile myoclonic epilepsy epilepsies, partial idiopathic generalized epilepsy
generalized epilepsy neuronitis febrile convulsions autism spectrum disorder
convulsions nicotine dependence toxic encephalopathy exfoliation syndrome
10 diseases from the University of Copenhagen DISEASES database for CHRNA4:Nicotine dependence Alzheimer's disease Schizophrenia Parkinson's disease
Myasthenia gravis Toxic encephalopathy Pain agnosia Focal epilepsy
Idiopathic generalized epilepsy Attention deficit hyperactivity disorder 10/19 Novoseek disease relationships for CHRNA4 gene (see all 19) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| epilepsy frontal lobe |
96 |
47 |
10939581 (2), 12887446 (2), 19058950 (2), 10448807 (2) (see all 32) |
| familial benign neonatal convulsions |
92.3 |
10 |
12204289 (1), 11888238 (1), 7647781 (1), 8833159 (1) (see all 9) |
| myoclonic epilepsy juvenile |
81.4 |
5 |
19577488 (3), 17008177 (1), 9259383 (1) |
| childhood absence epilepsy |
74.5 |
2 |
17008177 (1), 9259383 (1) |
| seizures febrile |
74.3 |
7 |
12887442 (2), 19853223 (1), 10896263 (1), 17008177 (1) (see all 6) |
| epilepsy generalized |
71.2 |
4 |
16049035 (1), 16278970 (1), 17008177 (1), 11579435 (1) |
| epilepsies partial |
69.2 |
7 |
10446744 (1), 9758605 (1), 11121188 (1), 9259383 (1) (see all 6) |
| epilepsy |
68.2 |
19 |
9921897 (2), 9216991 (2), 9259280 (1), 16049035 (1) (see all 16) |
| epilepsy, idiopathic generalized |
65.3 |
3 |
9259383 (2), 19577488 (1) |
| epilepsies myoclonic |
59.1 |
1 |
17008177 (1) |
GeneTests: CHRNA4
Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant
Genetic Association Database (GAD): CHRNA4
Human Genome Epidemiology (HuGE) Navigator: CHRNA4 (62 documents)
Export disorders for CHRNA4 gene to outside databases
|
Publications
for CHRNA4 gene (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 CHRNA4 gene, integrated from 9 sources (see all 234):
(articles sorted by number of sources associating them with CHRNA4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions. (PubMed id 12887442)1, 4, 9 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, 2, 9 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, 4, 9 Kim S.A....Chung J.H. (2004)
- A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. (PubMed id 10563623)1, 2, 9 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, 2, 9 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, 4, 9 Haider M.Z....Al-Bloushi M. (2005)
- Nicotinic acetylcholine receptor alpha4 subunit gene polymorphism and attention deficit hyperactivity disorder. (PubMed id 11409698)1, 4, 9 Kent L....Craddock N. (2001)
- A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. (PubMed id 14623738)1, 2, 9 Cho Y.-W.... Steinlein O.K. (2003)
- Genetic interaction between alpha4 and beta2 subunits of high affinity nicotinic receptor: analysis in schizophrenia. (PubMed id 16636791)1, 7, 9 De Luca V....Kennedy J.L. (2006)
- 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)
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External Searches for CHRNA4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing CHRNA4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing CHRNA4 gene
(According to HUGE)
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Specialized Databases showing CHRNA4 gene(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
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| Name | Description |
| PharmGKB entry for CHRNA4 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRNA4 | | NIEHS-SNPs | http://egp.gs.washington.edu/data/chrna4/ |
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About This Section
| Patent Information for CHRNA4 gene:
Search GeneIP for patents involving CHRNA4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for CHRNA4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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| | |  | OriGene Antibodies for CHRNA4 | | OriGene shRNA RFP for CHRNA4 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CHRNA4 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHRNA4 | | | OriGene Protein Over-expression Lysate for CHRNA4 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CHRNA4 | | OriGene 3'-UTR Clone for CHRNA4 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHRNA4 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHRNA4 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CHRNA4 | | OriGene Custom Protein Services for CHRNA4 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CHRNA4 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHRNA4 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHRNA4 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHRNA4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHRNA4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHRNA4 |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA4 |
|  |  |  | | | | ThermoFisher Antibodies for CHRNA4 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHRNA4 |
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