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CHRNB4 Gene(Protein Coding)

Cholinergic Receptor Nicotinic Beta 4 Subunit

GCID:
GC15M078624
GIFtS:
61
Genes Participants
UDN Logo

Aliases for CHRNB4 Gene

Aliases for CHRNB4 Gene

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

External Ids for CHRNB4 Gene

Previous GeneCards Identifiers for CHRNB4 Gene

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

Summaries for CHRNB4 Gene

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 Nicotine Dependence, Protection Against. Among its related pathways are Innate Immune System and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. 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 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 Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNB4 Gene

Genomics for CHRNB4 Gene

Products:

  1. Regulatory Element

Regulatory Elements for CHRNB4 Gene

Enhancers for CHRNB4 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
GH15G078685 0.8 ENCODE 12.9 +42.0 42032 1.4 BCOR HDGF ZMYM3 BMI1 YBX1 ARID3A POLR2A EED ZNF143 RELB LOC646934 CHRNB4 PIR47221 GC15M078668
GH15G078681 0.6 ENCODE 12.8 +45.9 45941 0.2 POLR2A SMARCA4 GLIS1 REST ZNF398 ZIC2 WT1 RAD21 ZBTB20 CHRNB4 GC15M078668 PIR47221
GH15G078671 0.7 ENCODE 6.6 +55.9 55893 1.2 HLF MAFG REST ZIC2 RAD21 OSR2 ZNF316 POLR2A SMARCA4 SCRT2 CHRNA5 CRABP1 CHRNB4 GC15M078668 RPL18P11
GH15G078661 0.3 FANTOM5 5.8 +66.5 66520 0.4 CHRNA3 CHRNB4 MORF4L1 LOC646934 PIR32831
GH15G078726 0.7 ENCODE 0.7 +0.7 721 0.2 LEF1 PKNOX1 BMI1 ZFHX2 POLR2A SCRT2 ZNF600 TCF7L2 SCRT1 RFX1 MORF4L1 ADAMTS7 CHRNB4 GC15M078021
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHRNB4 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CHRNB4 gene promoter:

Genomic Location for CHRNB4 Gene

Chromosome:
15
Start:
78,623,297 bp from pter
End:
78,727,754 bp from pter
Size:
104,458 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 Structure • Gene Density

RefSeq DNA sequence for CHRNB4 Gene

Proteins for CHRNB4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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).

    Three dimensional structures from OCA and Proteopedia for CHRNB4 Gene

    Alternative splice isoforms for CHRNB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNB4 Gene

Protein Expression for CHRNB4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CHRNB4 Gene

  • Glycosylation at posLast=3636, posLast=9393, Asn138, and Asn166
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNB4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHRNB4 Gene

Domains & Families for CHRNB4 Gene

Gene Families for CHRNB4 Gene

HGNC:
IUPHAR :

Protein Domains for CHRNB4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CHRNB4 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CHRNB4 Gene

GENATLAS Biochemistry:
cholinergic receptor,nicotinic,beta 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.

Gene Ontology (GO) - Molecular Function for CHRNB4 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:0008144 drug binding IEA --
GO:0015276 ligand-gated ion channel activity TAS 20438829
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

miRNA for CHRNB4 Gene

miRTarBase miRNAs that target CHRNB4

Inhibitory RNA Products

Flow Cytometry Products

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 1
endoplasmic reticulum 1

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 IC 11742001
GO:0005892 acetylcholine-gated channel complex TAS 11742001
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane 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:0006810 transport IEA --
GO:0006811 ion transport TAS 8906617
GO:0006939 smooth muscle contraction IEA --
GO:0006940 regulation of smooth muscle contraction IEA --
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

Products:

  1. Drug

(90) 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, Target, agonist 1103
Ethanol Approved Pharma Target 2137
Dextromethorphan Approved Pharma Target, antagonist 133
Galantamine Approved Pharma Target, allosteric modulator 106
Levomethadyl Acetate Approved Pharma Target, other/unknown 0

(82) 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
1-Acetyl-4-methylpiperazine hydrochloride 144205-68-5
3-Bromocytisine 207390-14-5
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
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
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 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 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

Transcripts for CHRNB4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CHRNB4 Gene

(12) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(23) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHRNB4 Gene

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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
CHRNB4

Expression for CHRNB4 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for CHRNB4 Gene
mRNA expression by BioGPS for CHRNB4 GenemRNA expression by GTEx 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, PaxDb, and MOPED for CHRNB4 Gene



Protein tissue co-expression partners for CHRNB4 Gene

NURSA nuclear receptor signaling pathways regulating expression of CHRNB4 Gene:

CHRNB4

SOURCE GeneReport for Unigene cluster for CHRNB4 Gene:

Hs.624178

Evidence on tissue expression from TISSUES for CHRNB4 Gene

  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with CHRNB4: view

Primer Products

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 34 35
  • 98.84 (n)
cow
(Bos Taurus)
 Mammalia CHRNB4 34 35
  • 87.69 (n)
dog
(Canis familiaris)
 Mammalia CHRNB4 34 35
  • 85.77 (n)
mouse
(Mus musculus)
 Mammalia Chrnb4 34 16 35
  • 84.69 (n)
rat
(Rattus norvegicus)
 Mammalia Chrnb4 34
  • 84.12 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CHRNB4 35
  • 77 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia CHRNB4 35
  • 76 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CHRNB4 34 35
  • 68.67 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia chrnb4 34
  • 64.84 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC568566 34
  • 68.71 (n)
CHRNB4 35
  • 61 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta nAcRalpha-96Aa 36
  • 53 (a)
nAcRalpha-7E 36
  • 50 (a)
nAcRalpha-96Ab 36
  • 49 (a)
nAcRbgr-64B 36
  • 42 (a)
nAcRbgr-96A 36
  • 42 (a)
nAcRalpha-80B 36
  • 40 (a)
nAcRalpha-30D 36
  • 30 (a)
worm
(Caenorhabditis elegans)
 Secernentea acr-2 36
  • 45 (a)
unc-38 36
  • 41 (a)
unc-29 36
  • 39 (a)
acr-3 36
  • 37 (a)
lev-1 36
  • 37 (a)
acr-12 36
  • 34 (a)
acr-8 36
  • 34 (a)
F18G5.4 36
  • 34 (a)
ZK973.5 36
  • 33 (a)
acr-9 36
  • 32 (a)
acr-13 36
  • 30 (a)
Y73F8A.30 36
  • 30 (a)
acr-14 36
  • 28 (a)
Y44A6E.1 36
  • 27 (a)
acr-5 36
  • 26 (a)
deg-3 36
  • 26 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 53 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.1655 34
Species where no ortholog for CHRNB4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for CHRNB4 Gene

Paralogs for CHRNB4 Gene

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

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

Variants for CHRNB4 Gene

Sequence variations from dbSNP and Humsavar for CHRNB4 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000166231 -- 78,650,209(+) TTCTT(A/G)CAGTT intron-variant
rs1000219662 -- 78,634,982(+) AATAG(G/T)TGCTG intron-variant, utr-variant-5-prime
rs1000253384 -- 78,638,577(+) AGTGT(A/G)TGCCC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000268528 -- 78,656,282(+) CAGTG(A/G)GCTGA upstream-variant-2KB
rs1000270355 -- 78,635,268(+) TCATT(A/C)AATAT intron-variant, upstream-variant-2KB

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
substance dependence
nicotine dependence, protection against
  • nicotine dependence
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CHRNB4

Genetic Association Database (GAD)
CHRNB4
Human Genome Epidemiology (HuGE) Navigator
CHRNB4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHRNB4
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. (Hum. Mol. Genet. 2009) 3 22 46 64
  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 L.M. … Criado M. (J. Biol. Chem. 2002) 3 4 22 64
  3. Functional interaction between Lypd6 and nicotinic acetylcholine receptors. (PMID: 27344019) Arvaniti M. … Thomsen M.S. (J. Neurochem. 2016) 3 4 64
  4. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat B.E. … Tseng Z.H. (BMC Cardiovasc Disord 2011) 3 46 64
  5. Association and interaction analysis of variants in CHRNA5/CHRNA3/CHRNB4 gene cluster with nicotine dependence in African and European Americans. (PMID: 19859904) Li M.D. … Ma J.Z. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64

Products for CHRNB4 Gene

Sources for CHRNB4 Gene

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