This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta... See more...

Aliases for CHRNB4 Gene

Aliases for CHRNB4 Gene

  • Cholinergic Receptor Nicotinic Beta 4 Subunit 2 3 5
  • Acetylcholine Receptor, Nicotinic, Beta 4 (Neuronal) 2 3
  • Cholinergic Receptor, Nicotinic, Beta Polypeptide 4 2 3
  • Cholinergic Receptor, Nicotinic, Beta 4 (Neuronal) 2 3
  • Neuronal Acetylcholine Receptor Subunit Beta-4 3 4
  • Neuronal Nicotinic Receptor Beta 4 Subunit 3
  • Cholinergic Receptor, Nicotinic Beta 4 2
  • CHRNB4 5

External Ids for CHRNB4 Gene

Previous GeneCards Identifiers for CHRNB4 Gene

  • GC15P074970
  • GC15M072006
  • GC15M076492
  • GC15M076632
  • GC15M076703
  • GC15M078916
  • GC15M055674

Summaries for CHRNB4 Gene

Entrez Gene Summary for CHRNB4 Gene

  • This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the agonists that binds to the receptor. Variants in this gene have been associated with nicotine dependence and lung cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]

GeneCards Summary for CHRNB4 Gene

CHRNB4 (Cholinergic Receptor Nicotinic Beta 4 Subunit) is a Protein Coding gene. Diseases associated with CHRNB4 include Substance Dependence and Tobacco Addiction. Among its related pathways are Transmission across Chemical Synapses and Innate Immune System. Gene Ontology (GO) annotations related to this gene include extracellular ligand-gated ion channel activity and ligand-gated ion channel activity. An important paralog of this gene is CHRNB2.

UniProtKB/Swiss-Prot Summary for CHRNB4 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.

Gene Wiki entry for CHRNB4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHRNB4 Gene

Genomics for CHRNB4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CHRNB4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHRNB4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHRNB4

Top Transcription factor binding sites by QIAGEN in the CHRNB4 gene promoter:
  • AhR
  • Arnt
  • c-Myc
  • HNF-1
  • HNF-1A
  • ITF-2
  • Max1
  • NF-E2
  • NF-E2 p45
  • Tal-1beta

Genomic Locations for CHRNB4 Gene

Genomic Locations for CHRNB4 Gene
chr15:78,623,282-78,727,754
(GRCh38/hg38)
Size:
104,473 bases
Orientation:
Minus strand
chr15:78,916,461-79,020,096
(GRCh37/hg19)
Size:
103,636 bases
Orientation:
Minus strand

Genomic View for CHRNB4 Gene

Genes around CHRNB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRNB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRNB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNB4 Gene

Proteins for CHRNB4 Gene

  • Protein details for CHRNB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30926-ACHB4_HUMAN
    Recommended name:
    Neuronal acetylcholine receptor subunit beta-4
    Protein Accession:
    P30926
    Secondary Accessions:
    • A4FTX5
    • E9PHE8
    • Q16607
    • Q4VBA5
    • Q8WXC8
    • Q9BQR4

    Protein attributes for CHRNB4 Gene

    Size:
    498 amino acids
    Molecular mass:
    56380 Da
    Quaternary structure:
    • Neuronal AChR is composed of two different types of subunits: alpha and beta. Beta-4 subunit can be combined to alpha-2, alpha-3 or alpha-4 to give rise to functional receptors. Interacts with RIC3; which is required for proper folding and assembly (PubMed:16120769). Interacts with LYPD6 (PubMed:27344019). The pentamer alpha3-beta-4 interacts with the conotoxin BuIA (By similarity). The heteropentamer composed of alpha-3 and beta-4 subunits interacts with the alpha-conotoxin ImI (PubMed:15609996).

    Three dimensional structures from OCA and Proteopedia for CHRNB4 Gene

    Alternative splice isoforms for CHRNB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNB4 Gene

Post-translational modifications for CHRNB4 Gene

  • Glycosylation at Asn36, Asn93, Asn138, and Asn166
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CHRNB4 Gene

Domains & Families for CHRNB4 Gene

Gene Families for CHRNB4 Gene

Protein Domains for CHRNB4 Gene

InterPro:
Blocks:
  • Nicotinic acetylcholine receptor signature
  • Neurotransmitter-gated ion-channel
ProtoNet:

Suggested Antigen Peptide Sequences for CHRNB4 Gene

GenScript: Design optimal peptide antigens:
  • CHRNB4 protein (A4FTX5_HUMAN)
  • Neuronal acetylcholine receptor subunit beta-4 (ACHB4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30926

UniProtKB/Swiss-Prot:

ACHB4_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-4/CHRNB4 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-4/CHRNB4 sub-subfamily.
genes like me logo Genes that share domains with CHRNB4: view

Function for CHRNB4 Gene

Molecular function for CHRNB4 Gene

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.
GENATLAS Biochemistry:
cholinergic receptor,nicotinic,beta 4 polypeptide,neuronal

Phenotypes From GWAS Catalog for CHRNB4 Gene

Gene Ontology (GO) - Molecular Function for CHRNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005515 protein binding IPI 27344019
GO:0008144 drug binding IEA --
genes like me logo Genes that share ontologies with CHRNB4: view
genes like me logo Genes that share phenotypes with CHRNB4: view

Animal Models for CHRNB4 Gene

MGI Knock Outs for CHRNB4:

Animal Model Products

  • Taconic Biosciences Mouse Models for CHRNB4

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRNB4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CHRNB4 Gene

Localization for CHRNB4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNB4 Gene

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

Subcellular locations from

COMPARTMENTS
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 CHRNB4 gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHRNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA,IC 11742001
GO:0005892 acetylcholine-gated channel complex TAS 11742001
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,NAS 8906617
genes like me logo Genes that share ontologies with CHRNB4: view

Pathways & Interactions for CHRNB4 Gene

genes like me logo Genes that share pathways with CHRNB4: view

Gene Ontology (GO) - Biological Process for CHRNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001508 action potential IEA --
GO:0006811 ion transport IEA,TAS 8906617
GO:0006939 smooth muscle contraction IEA --
GO:0006940 regulation of smooth muscle contraction IEA --
GO:0007165 signal transduction IBA,IDA 8906617
genes like me logo Genes that share ontologies with CHRNB4: view

No data available for SIGNOR curated interactions for CHRNB4 Gene

Drugs & Compounds for CHRNB4 Gene

(87) Drugs for CHRNB4 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nicotine Approved Pharma Antagonist, Activator, Activation, Target, agonist 1518
Ethanol Approved Pharma Target 3266
Butabarbital Approved, Illicit Pharma Target, inhibitor 0
Dextromethorphan Approved Pharma Target, antagonist 166
Fluoxetine Approved, Vet_approved Pharma Channel blocker, Antagonist, Inhibitor, Inhibition, Target, antagonist 278

(77) ApexBio Compounds for CHRNB4 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
3-Bromocytisine 207390-14-5
Acetylcholine Chloride Major transmitter at many nervous sites 60-31-1
Acetylcysteine Antioxidant;mucolytic agent 616-91-1
Atropine MAChRs antagonist 5908-99-6
Benzoquinonium dibromide inhibitor of AChR and ganglion 311-09-1
Bethanechol chloride Muscarinic receptor agonist 590-63-6
Carbamoylcholine chloride 51-83-2
Catestatin 142211-96-9
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 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 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 1508Y maleate 192231-16-6
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 Tartrate Subtype-selective agonist of α4β2 nicotinic receptors,orally active 375815-87-5
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 CHRNB4: view

Drug Products

Transcripts for CHRNB4 Gene

mRNA/cDNA for CHRNB4 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRNB4

Alternative Splicing Database (ASD) splice patterns (SP) for CHRNB4 Gene

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

Relevant External Links for CHRNB4 Gene

GeneLoc Exon Structure for
CHRNB4

Expression for CHRNB4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHRNB4 Gene

mRNA differential expression in normal tissues according to GTEx for CHRNB4 Gene

This gene is overexpressed in Testis (x26.4) and Colon - Sigmoid (x4.0).

Protein differential expression in normal tissues from HIPED for CHRNB4 Gene

This gene is overexpressed in Fetal heart (57.8) and Heart (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CHRNB4 Gene



Protein tissue co-expression partners for CHRNB4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHRNB4

SOURCE GeneReport for Unigene cluster for CHRNB4 Gene:

Hs.624178

Evidence on tissue expression from TISSUES for CHRNB4 Gene

  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with CHRNB4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRNB4 Gene

Orthologs for CHRNB4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNB4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CHRNB4 30 31
  • 98.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CHRNB4 30 31
  • 87.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CHRNB4 30 31
  • 85.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Chrnb4 30 17 31
  • 84.69 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Chrnb4 30
  • 84.12 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CHRNB4 31
  • 77 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CHRNB4 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CHRNB4 30 31
  • 68.67 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia chrnb4 30
  • 64.84 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC568566 30
  • 68.71 (n)
CHRNB4 31
  • 61 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta nAcRalpha-96Aa 32
  • 53 (a)
nAcRalpha-7E 32
  • 50 (a)
nAcRalpha-96Ab 32
  • 49 (a)
nAcR&bgr;-96A 32
  • 42 (a)
nAcR&bgr;-64B 32
  • 42 (a)
nAcRalpha-80B 32
  • 40 (a)
nAcRalpha-30D 32
  • 30 (a)
Worm
(Caenorhabditis elegans)
Secernentea acr-2 32
  • 45 (a)
unc-38 32
  • 41 (a)
unc-29 32
  • 39 (a)
acr-3 32
  • 37 (a)
lev-1 32
  • 37 (a)
acr-8 32
  • 34 (a)
acr-12 32
  • 34 (a)
F18G5.4 32
  • 34 (a)
ZK973.5 32
  • 33 (a)
acr-9 32
  • 32 (a)
acr-13 32
  • 30 (a)
Y73F8A.30 32
  • 30 (a)
acr-14 32
  • 28 (a)
Y44A6E.1 32
  • 27 (a)
acr-5 32
  • 26 (a)
deg-3 32
  • 26 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1655 30
Species where no ortholog for CHRNB4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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 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 CHRNB4 Gene

ENSEMBL:
Gene Tree for CHRNB4 (if available)
TreeFam:
Gene Tree for CHRNB4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHRNB4: view image

Paralogs for CHRNB4 Gene

(18) SIMAP similar genes for CHRNB4 Gene using alignment to 3 proteins:

  • ACHB4_HUMAN
  • H0YM29_HUMAN
  • H3BU02_HUMAN
genes like me logo Genes that share paralogs with CHRNB4: view

Variants for CHRNB4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHRNB4 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
714662 Benign: not provided 78,629,585(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
718587 Benign: not provided 78,629,237(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
718588 Benign: not provided 78,629,336(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
762453 Likely Benign: not provided 78,625,187(-) G/T MISSENSE_VARIANT,SYNONYMOUS_VARIANT
779904 Benign: not provided 78,629,181(-) G/A MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CHRNB4 Gene

Structural Variations from Database of Genomic Variants (DGV) for CHRNB4 Gene

Variant ID Type Subtype PubMed ID
dgv1249n106 CNV deletion 24896259
dgv8e24 CNV loss 17666407
esv1211887 CNV deletion 17803354
esv2059419 CNV deletion 18987734
esv2749912 CNV deletion 23290073
esv2749913 CNV deletion 23290073
esv2750601 CNV gain 17666407
nsv1045827 CNV gain 25217958
nsv1116464 OTHER inversion 24896259
nsv1628 CNV insertion 18451855
nsv457208 CNV gain 19166990
nsv477736 CNV novel sequence insertion 20440878
nsv570201 CNV gain 21841781
nsv570202 CNV loss 21841781

Variation tolerance for CHRNB4 Gene

Residual Variation Intolerance Score: 80.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.77; 66.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHRNB4 Gene

Human Gene Mutation Database (HGMD)
CHRNB4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRNB4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNB4 Gene

Disorders for CHRNB4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CHRNB4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
substance dependence
tobacco addiction
  • tobacco addiction, susceptibility to
alcohol dependence
  • alcoholism
lung cancer
  • adenocarcinoma of lung
autosomal dominant nocturnal frontal lobe epilepsy
  • epilepsy, nocturnal frontal lobe, 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CHRNB4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CHRNB4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHRNB4 Gene

Publications for CHRNB4 Gene

  1. Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. (PMID: 19628475) Sabatelli M … Zollino M (Human molecular genetics 2009) 3 23 41
  2. Transcription factors NF-Y and Sp1 are important determinants of the promoter activity of the bovine and human neuronal nicotinic receptor beta 4 subunit genes. (PMID: 11742001) Valor LM … Criado M (The Journal of biological chemistry 2002) 3 4 23
  3. Functional interaction between Lypd6 and nicotinic acetylcholine receptors. (PMID: 27344019) Arvaniti M … Thomsen MS (Journal of neurochemistry 2016) 3 4
  4. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat BE … Tseng ZH (BMC cardiovascular disorders 2011) 3 41
  5. Association and interaction analysis of variants in CHRNA5/CHRNA3/CHRNB4 gene cluster with nicotine dependence in African and European Americans. (PMID: 19859904) Li MD … Ma JZ (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41

Products for CHRNB4 Gene

Sources for CHRNB4 Gene