Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CHRNA4 Gene

Aliases for CHRNA4 Gene

  • Cholinergic Receptor Nicotinic Alpha 4 Subunit 2 3 5
  • Cholinergic Receptor, Nicotinic, Alpha Polypeptide 4 2 3
  • Cholinergic Receptor, Nicotinic, Alpha 4 (Neuronal) 2 3
  • Cholinergic Receptor, Nicotinic Alpha 4 2 3
  • NACRA4 3 4
  • Neuronal Nicotinic Acetylcholine Receptor Alpha-4 Subunit 3
  • Acetylcholine Receptor, Nicotinic, Alpha 4 (Neuronal) 2
  • Neuronal Acetylcholine Receptor Subunit Alpha-4 3
  • NACHRA4 3
  • NACHR 3
  • BFNC 3
  • EBN1 3
  • EBN 3

External Ids for CHRNA4 Gene

Previous HGNC Symbols for CHRNA4 Gene

  • EBN
  • EBN1

Previous GeneCards Identifiers for CHRNA4 Gene

  • GC20U990005
  • GC20M061813
  • GC20M062655
  • GC20M062702
  • GC20M061446
  • GC20M061974
  • GC20M058700

Summaries for CHRNA4 Gene

Entrez Gene Summary for CHRNA4 Gene

  • 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

GeneCards Summary for CHRNA4 Gene

CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit) is a Protein Coding gene. Diseases associated with CHRNA4 include Epilepsy, Nocturnal Frontal Lobe, 1 and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Acetylcholine Binding And Downstream Events. GO annotations related to this gene include ion channel activity. An important paralog of this gene is CHRNA2.

UniProtKB/Swiss-Prot for CHRNA4 Gene

  • 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 permeable to sodium ions.

Tocris Summary for CHRNA4 Gene

  • 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.

Gene Wiki entry for CHRNA4 Gene

Additional gene information for CHRNA4 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNA4 Gene

Genomics for CHRNA4 Gene

Regulatory Elements for CHRNA4 Gene

Enhancers for CHRNA4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H063172 1.6 FANTOM5 Ensembl ENCODE 13.9 +201.8 201772 8.3 SIN3A ZNF121 GLIS2 ZNF143 ATF7 RUNX3 SP3 MXD4 ZNF488 MIER2 ARFRP1 TNFRSF6B BIRC7 CHRNA4 ENSG00000231977 RTEL1 KCNQ2 ZNF512B ZBTB46 NKAIN4
GH20H063326 0.9 Ensembl ENCODE 4.9 +51.6 51600 1.5 ETV1 ELF1 ZBTB40 ZNF518A GABPA GLIS1 ETV6 FOXP2 FOXP1 RTEL1 CHRNA4 PIR56756 COL20A1
GH20H063828 0.8 FANTOM5 Ensembl dbSUPER 2 -450.3 -450303 0.2 ENSG00000268858 CHRNA4 TCEA2 SOX18 SAMD10 ZBTB46 PIR57154
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHRNA4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CHRNA4 Gene

Genomic Locations for CHRNA4 Gene
35,179 bases
Minus strand

Genomic View for CHRNA4 Gene

Genes around CHRNA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRNA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRNA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNA4 Gene

Proteins for CHRNA4 Gene

  • Protein details for CHRNA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Neuronal acetylcholine receptor subunit alpha-4
    Protein Accession:
    Secondary Accessions:
    • Q4JGR7
    • Q4VAQ5
    • Q4VAQ6

    Protein attributes for CHRNA4 Gene

    627 amino acids
    Molecular mass:
    69957 Da
    Quaternary structure:
    • 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, complexes with beta-2 may be heteropentamers (PubMed:22361591). Interacts with RIC3; which is required for proper folding and assembly (PubMed:16120769). Interacts with LYPD6 (PubMed:27344019). The heteropentamer alpha-4-beta-2 interacts with alpha-conotoxins PnIA, GID and MII (By similarity).

    Three dimensional structures from OCA and Proteopedia for CHRNA4 Gene

    Alternative splice isoforms for CHRNA4 Gene


neXtProt entry for CHRNA4 Gene

Post-translational modifications for CHRNA4 Gene

  • Glycosylation at Asn57, Asn107, and Asn174
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNA4 Gene

No data available for DME Specific Peptides for CHRNA4 Gene

Domains & Families for CHRNA4 Gene

Gene Families for CHRNA4 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry



  • 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.
  • 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.
genes like me logo Genes that share domains with CHRNA4: view

Function for CHRNA4 Gene

Molecular function for CHRNA4 Gene

GENATLAS Biochemistry:
cholinergic receptor,nicotinic,alpha 4 polypeptide,neuronal
UniProtKB/Swiss-Prot 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 permeable to sodium ions.

Phenotypes From GWAS Catalog for CHRNA4 Gene

Gene Ontology (GO) - Molecular Function for CHRNA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005515 protein binding IPI 27344019
GO:0015276 ligand-gated ion channel activity TAS 20438829
GO:0015464 acetylcholine receptor activity IDA 8906617
genes like me logo Genes that share ontologies with CHRNA4: view
genes like me logo Genes that share phenotypes with CHRNA4: view

Human Phenotype Ontology for CHRNA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHRNA4 Gene

MGI Knock Outs for CHRNA4:

Animal Model Products

CRISPR Products

miRNA for CHRNA4 Gene

miRTarBase miRNAs that target CHRNA4

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for CHRNA4 (Nicotinic Acetylcholine R alpha 4/CHRNA4)

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CHRNA4 Gene

Localization for CHRNA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNA4 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cell membrane; Lipid-anchor.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHRNA4 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CHRNA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005892 acetylcholine-gated channel complex IDA 8906617
GO:0009897 external side of plasma membrane ISS --
GO:0016020 membrane ISS --
GO:0016021 integral component of membrane NAS 8906617
genes like me logo Genes that share ontologies with CHRNA4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHRNA4 Gene

Pathways & Interactions for CHRNA4 Gene

genes like me logo Genes that share pathways with CHRNA4: view

Gene Ontology (GO) - Biological Process for CHRNA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001508 action potential ISS --
GO:0001666 response to hypoxia IDA 12189247
GO:0006281 DNA repair IMP 16332175
GO:0006810 transport IEA --
GO:0006811 ion transport NAS 8906617
genes like me logo Genes that share ontologies with CHRNA4: view

No data available for SIGNOR curated interactions for CHRNA4 Gene

Drugs & Compounds for CHRNA4 Gene

(139) Drugs for CHRNA4 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Varenicline Approved, Investigational Pharma agonist, Target, partial agonist α4β2 nAChRs antagonist 277
Nicotine Approved Pharma Antagonist, antagonist, Target, agonist 1148
Mecamylamine Approved Pharma Channel blocker, antagonist, Target 26
Ethanol Approved Pharma Target 2226
Atropine Approved, Vet_approved Pharma Antagonist, Target MAChRs antagonist 141

(5) Additional Compounds for CHRNA4 Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Full agonist, Agonist

(5) Tocris Compounds for CHRNA4 Gene

Compound Action Cas Number
5-Iodo-A-85380 dihydrochloride High affinity alpha4beta2 and alpha6beta2 subtype-selective agonist 1217837-17-6
5-Iodo-A-85380, 5-trimethylstannyl N-BOC derivative Precursor to 5-Iodo-A-85380 (Cat. No. 1518) 213766-21-3
RJR 2403 oxalate alpha4beta2 selective nicotinic agonist 220662-95-3
TC 2559 difumarate Selective partial agonist at alpha4beta2 receptors 212332-35-9
Varenicline tartrate Orally active, subtype-selective alpha4beta2 partial agonist 375815-87-5

(88) ApexBio Compounds for CHRNA4 Gene

Compound Action Cas Number
(-)-Lobeline hydrochloride 134-63-4
(+)-Anabasine hydrochloride 53912-89-3
(+)-Tubocurarine chloride 57-94-3
(±)-Anatoxin A fumarate 1219922-30-1
(±)-Epibatidine dopamine receptor antagonist 148152-66-3
1-Acetyl-4-methylpiperazine hydrochloride 144205-68-5
3-Bromocytisine 207390-14-5
3-pyr-Cytisine α4β2 receptors agonist 948027-43-8
4-Acetyl-1,1-dimethylpiperazinium iodide 75667-84-4
5-Iodo-A-85380, 5-trimethylstannyl N-BOC derivative 213766-21-3
Acetylcholine Chloride Major transmitter at many nervous sites 60-31-1
Acetylcysteine Antioxidant;mucolytic agent 616-91-1
Adiphenine HCl 50-42-0
Atropine MAChRs antagonist 5908-99-6
Benzoquinonium dibromide inhibitor of AChR and ganglion 311-09-1
Bethanechol chloride Muscarinic receptor agonist 590-63-6
bPiDDB 525596-66-1
Carbamoylcholine chloride 51-83-2
Catestatin 142211-96-9
Catharanthine 2468-21-5
CCMI 917837-54-8
Chlorisondamine diiodide 96750-66-2
Decamethonium Bromide 541-22-0
Desformylflustrabromine hydrochloride 951322-11-5
Dihydro-β-erythroidine hydrobromide antagonist of nAChRs 29734-68-7
Diphemanil Methylsulfate 62-97-5
DMAB-anabaseine dihydrochloride 154149-38-9
EVP-6124 NAChRs agonist 550999-75-2
Flavoxate hydrochloride 3717-88-2
Galanthamine HBr Acetylcholinesterase inhibitor 1953-04-4
Gallamine Triethiodide 65-29-2
GTS 21 dihydrochloride nAChRs agonist, novel 156223-05-1
Hexamethonium Bromide 55-97-0
Homatropine Bromide Muscarinic AChR antagonist 51-56-9
Homatropine Methylbromide Muscarinic AChR antagonist 80-49-9
Hyoscyamine 101-31-5
Ipratropium Bromide 22254-24-6
Ivermectin NAChR/purinergic P2X4 receptor modulator 70288-86-7
Ivermectin B1a-d2
LX-1031 TPH inhibitor 945976-76-1
LY 2087101 913186-74-0
LY2119620 886047-22-9
Mecamylamine hydrochloride 826-39-1
Methscopolamine Muscarinic acetylcholine receptor blocker 155-41-9
Methyllycaconitine citrate 112825-05-5
MG 624 77257-42-2
Neostigmine Bromide Cholinesterase inhibitor 114-80-7
Nitenpyram 150824-47-8
NS 1738 501684-93-1
Orphenadrine Citrate Antiparkinsonian and analgesic drug 4682-36-4
Otilonium Bromide 26095-59-0
Oxybutynin 5633-20-5
Oxybutynin chloride 1508-65-2
Pancuronium dibromide AChR antagonist 15500-66-0
Paroxetine HCl Antidepressant agents 78246-49-8
PHA 543613 hydrochloride 478149-53-0
PHA 568487 527680-57-5
PNU 282987 123464-89-1
PNU-120596 α7 nAChR modulator,positive allosteric 501925-31-1
Pregnenolone 145-13-1
Rivastigmine Tartrate 129101-54-8
RJR 2429 dihydrochloride 1021418-53-0
RJR-2403 Nicotinic receptor agonist,highly selective 15585-43-0
RJR-2403 hemioxalate Neuronal nicotinic receptor agonist
RJR-2403 oxalate Nicotinic receptor agonist 220662-95-3
Rocuronium Bromide TGF-βR I kinase inhibitor 119302-91-9
RuBi-Nicotine 1256362-30-7
S 24795 304679-75-2
Sazetidine A dihydrochloride 1197329-42-2
SEN 12333 874450-44-9
SIB 1553A hydrochloride 191611-89-9
SR 16584 1150153-86-8
Succinylcholine Chloride Dihydrate 6101-15-1
TC 1698 dihydrochloride 787587-06-8
TC 2559 difumarate 212332-35-9
Tiotropium Bromide hydrate Muscarinic antagonist 139404-48-1
TMPH hydrochloride 849461-91-2
TQS 353483-92-8
Tropicamide Antimuscarinic drug 1508-75-4
UB 165 fumarate 200432-86-6
Varenicline α4β2 nAChRs antagonist 249296-44-4
Varenicline Hydrochloride α4β2 nicotinic receptor agonist 230615-23-3
Varenicline Tartrate Subtype-selective agonist of α4β2 nicotinic receptors,orally active 375815-87-5
vinblastine 865-21-4
α-Bungarotoxin 11032-79-4
α-Conotoxin AuIB 216299-21-7
α-Conotoxin EI 170663-33-9
α-Conotoxin PnIA 705300-84-1
genes like me logo Genes that share compounds with CHRNA4: view

Drug Products

Transcripts for CHRNA4 Gene

Unigene Clusters for CHRNA4 Gene

Cholinergic receptor, nicotinic, alpha 4 (neuronal):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for CHRNA4 (Nicotinic Acetylcholine R alpha 4/CHRNA4)

Alternative Splicing Database (ASD) splice patterns (SP) for CHRNA4 Gene

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

Relevant External Links for CHRNA4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CHRNA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHRNA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHRNA4 Gene

This gene is overexpressed in Liver (x18.5) and Brain - Substantia nigra (x4.3).

Protein differential expression in normal tissues from HIPED for CHRNA4 Gene

This gene is overexpressed in Heart (59.6) and Adipocyte (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CHRNA4 Gene

Protein tissue co-expression partners for CHRNA4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CHRNA4 Gene:


SOURCE GeneReport for Unigene cluster for CHRNA4 Gene:


Evidence on tissue expression from TISSUES for CHRNA4 Gene

  • Nervous system(4.8)
  • Muscle(3)
  • Adrenal gland(2.4)
  • Kidney(2.1)
  • Heart(2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRNA4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with CHRNA4: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CHRNA4 Gene

Orthologs for CHRNA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNA4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CHRNA4 33 34
  • 98.51 (n)
(Canis familiaris)
Mammalia CHRNA4 33 34
  • 88.87 (n)
(Bos Taurus)
Mammalia CHRNA4 33 34
  • 85.75 (n)
(Rattus norvegicus)
Mammalia Chrna4 33
  • 83.92 (n)
(Mus musculus)
Mammalia Chrna4 33 16 34
  • 83.64 (n)
(Monodelphis domestica)
Mammalia CHRNA4 34
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia CHRNA4 34
  • 76 (a)
(Gallus gallus)
Aves CHRNA4 33 34
  • 75.82 (n)
(Anolis carolinensis)
Reptilia CHRNA4 34
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia chrna4 33
  • 70.94 (n)
(Danio rerio)
Actinopterygii LOC563696 33
  • 68.74 (n)
chrna4b 34 34
  • 61 (a)
CHRNA4 (3 of 3) 34
  • 59 (a)
fruit fly
(Drosophila melanogaster)
Insecta nAcRbeta-64B 33
  • 60.93 (n)
nAcRalpha-96Aa 35
  • 58 (a)
nAcRalpha-96Ab 35
  • 55 (a)
nAcRalpha-7E 35
  • 52 (a)
nAcRbgr-64B 35
  • 51 (a)
nAcRbgr-96A 35
  • 51 (a)
nAcRalpha-30D 35
  • 35 (a)
nAcRbgr-21C 35
  • 30 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000966 33
  • 59.41 (n)
(Caenorhabditis elegans)
Secernentea unc-63 35
  • 52 (a)
unc-38 35
  • 49 (a)
acr-3 35
  • 46 (a)
lev-1 35
  • 46 (a)
acr-12 35
  • 45 (a)
acr-2 35
  • 45 (a)
unc-29 35
  • 43 (a)
acr-15 35
  • 38 (a)
acr-7 35
  • 38 (a)
acr-8 35
  • 38 (a)
acr-10 35
  • 37 (a)
acr-13 35
  • 37 (a)
ZK973.5 35
  • 37 (a)
acr-14 35
  • 33 (a)
acr-17 35
  • 31 (a)
deg-3 35
  • 31 (a)
Y73F8A.30 35
  • 31 (a)
acr-23 35
  • 30 (a)
acr-18 35
  • 29 (a)
acr-22 35
  • 29 (a)
acr-5 35
  • 29 (a)
Y44A6E.1 35
  • 29 (a)
C04C3.2 35
  • 25 (a)
Y57G11C.2 35
  • 24 (a)
Species where no ortholog for CHRNA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHRNA4 Gene

Gene Tree for CHRNA4 (if available)
Gene Tree for CHRNA4 (if available)

Paralogs for CHRNA4 Gene

genes like me logo Genes that share paralogs with CHRNA4: view

Variants for CHRNA4 Gene

Sequence variations from dbSNP and Humsavar for CHRNA4 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs121909580 Pathogenic, Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513] 63,350,572(-) CATCT(C/T)CGTGC nc-transcript-variant, reference, missense
VAR_017531 Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513]
rs281865066 Pathogenic 63,350,533(-) CATCA(C/T)CGAGA nc-transcript-variant, reference, missense
rs281865067 Pathogenic 63,350,538(-) TGCTG(-/GCT)CTCAT nc-transcript-variant, cds-indel
rs281865068 Pathogenic 63,350,404(-) GCCAC(A/G)CACGC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CHRNA4 Gene

Variant ID Type Subtype PubMed ID
nsv9825 CNV gain 18304495
nsv953306 CNV deletion 24416366
nsv828799 CNV gain 20364138
nsv473137 CNV novel sequence insertion 20440878
nsv180574 CNV insertion 16902084
nsv1144943 CNV deletion 24896259
nsv1125932 CNV deletion 24896259
nsv1116881 CNV deletion 24896259
esv3964 CNV loss 18987735
esv3557362 CNV deletion 23714750
esv2722913 CNV deletion 23290073
esv2722912 CNV deletion 23290073
esv2722910 CNV deletion 23290073
esv1955955 CNV deletion 18987734
esv1443132 CNV insertion 17803354
esv1436907 CNV insertion 17803354
esv1299744 CNV insertion 17803354
esv1058695 CNV insertion 17803354
dgv678e201 CNV deletion 23290073

Variation tolerance for CHRNA4 Gene

Residual Variation Intolerance Score: 5.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.47; 28.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHRNA4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNA4 Gene

Disorders for CHRNA4 Gene

MalaCards: The human disease database

(22) MalaCards diseases for CHRNA4 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, nocturnal frontal lobe, 1
  • autosomal dominant nocturnal frontal lobe epilepsy
autosomal dominant nocturnal frontal lobe epilepsy
  • epilepsy, nocturnal frontal lobe, 1
nicotine dependence, protection against
  • nicotine dependence
chrna4-related nocturnal frontal lobe epilepsy, autosomal dominant
  • adnfle type 1
  • epilepsy syndrome
- elite association - COSMIC cancer census association via MalaCards


  • Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513]: An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. {ECO:0000269 PubMed:10563623, ECO:0000269 PubMed:14623738, ECO:0000269 PubMed:7550350}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHRNA4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CHRNA4: view

No data available for Genatlas for CHRNA4 Gene

Publications for CHRNA4 Gene

  1. CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients. (PMID: 18226955) Combi R … Tenchini ML (Sleep medicine 2009) 3 22 45 60
  2. A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. (PMID: 19058950) Chen Y … Xu Q (Epilepsy research 2009) 3 22 45 60
  3. Association of nicotinic acetylcholine receptor subunit alpha 4 polymorphisms with nicotine dependence in 5500 Germans. (PMID: 19290018) Breitling LP … Winterer G (The pharmacogenomics journal 2009) 3 22 45 60
  4. Association of genes coding for the alpha-4, alpha-5, beta-2 and beta-3 subunits of nicotinic receptors with cigarette smoking and nicotine dependence. (PMID: 19482438) Etter JF … Bertrand D (Addictive behaviors 2009) 3 22 45 60
  5. The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. (PMID: 19577488) Rozycka A … Trzeciak WH (Seizure 2009) 3 22 45 60

Products for CHRNA4 Gene

Sources for CHRNA4 Gene

Loading form....