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Aliases for CHRNB4 Gene

Aliases for CHRNB4 Gene

  • Cholinergic Receptor Nicotinic Beta 4 Subunit 2 3
  • Cholinergic Receptor, Nicotinic Beta 4 2 5
  • Cholinergic Receptor, Nicotinic, Beta Polypeptide 4 2
  • Cholinergic Receptor, Nicotinic, Beta 4 (Neuronal) 2
  • Acetylcholine Receptor 2
  • Beta 4 (Neuronal) 2
  • Nicotinic 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 Cardiac Arrest. Among its related pathways are Transmission across Chemical Synapses and Circadian entrainment. 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 CHRNA3.

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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNB4 Gene

Genomics for CHRNB4 Gene

Regulatory Elements for CHRNB4 Gene

Enhancers for CHRNB4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CHRNB4 on UCSC Golden Path with GeneCards custom track

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 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.

    Three dimensional structures from OCA and Proteopedia for CHRNB4 Gene

    Alternative splice isoforms for CHRNB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNB4 Gene

Proteomics data for CHRNB4 Gene at MOPED

Post-translational modifications for CHRNB4 Gene

  • Glycosylation at Asn 36, Asn 93, Asn 138, and Asn 166
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNB4 Gene

No data available for DME Specific Peptides for CHRNB4 Gene

Domains & Families for CHRNB4 Gene

Gene Families for CHRNB4 Gene

Suggested Antigen Peptide Sequences for CHRNB4 Gene

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

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:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005515 protein binding IEA --
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 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

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
Jensen Localization Image for CHRNB4 Gene COMPARTMENTS Subcellular localization image for CHRNB4 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for CHRNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005892 acetylcholine-gated channel complex TAS 11742001
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: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

(39) 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 990
Ethanol Approved Pharma Target 1924
Dextromethorphan Approved Pharma Target, antagonist 125
Galantamine Approved Pharma Target, allosteric modulator 103
Levomethadyl Acetate Approved Pharma Target, other/unknown 0

(32) ApexBio Compounds for CHRNB4 Gene

Compound Action Cas Number
Acetylcholine Chloride Major transmitter at many nervous sites 60-31-1
Acetylcysteine Antioxidant;mucolytic agent 616-91-1
Atropine MAChRs antagonist 5908-99-6
Bethanechol chloride Muscarinic receptor agonist 590-63-6
Decamethonium Bromide 541-22-0
Diphemanil Methylsulfate 62-97-5
Flavoxate hydrochloride 3717-88-2
Galanthamine HBr Acetylcholinesterase inhibitor 1953-04-4
Gallamine Triethiodide 65-29-2
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
LY2119620 886047-22-9
Methscopolamine Muscarinic acetylcholine receptor blocker 155-41-9
Neostigmine Bromide Cholinesterase inhibitor 114-80-7
Nitenpyram 150824-47-8
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
PNU-120596 α7 nAChR modulator,positive allosteric 501925-31-1
Pregnenolone 145-13-1
Rivastigmine Tartrate 129101-54-8
Rocuronium Bromide TGF-βR I kinase inhibitor 119302-91-9
Succinylcholine Chloride Dihydrate 6101-15-1
Tiotropium Bromide hydrate Muscarinic antagonist 139404-48-1
Tropicamide Antimuscarinic drug 1508-75-4
Varenicline Tartrate Subtype-selective agonist of α4β2 nicotinic receptors,orally active 375815-87-5
genes like me logo Genes that share compounds with CHRNB4: view

Transcripts for CHRNB4 Gene

Unigene Clusters for CHRNB4 Gene

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

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

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for CHRNB4 Gene Hs.624178

genes like me logo Genes that share expression patterns with CHRNB4: view

Protein tissue co-expression partners for CHRNB4 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia CHRNB4 35
  • 87.69 (n)
  • 88.16 (a)
CHRNB4 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNB4 35
  • 85.77 (n)
  • 85.57 (a)
CHRNB4 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrnb4 35
  • 84.69 (n)
  • 84.29 (a)
Chrnb4 16
Chrnb4 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHRNB4 35
  • 98.84 (n)
  • 98.14 (a)
CHRNB4 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrnb4 35
  • 84.12 (n)
  • 83.44 (a)
oppossum
(Monodelphis domestica)
Mammalia CHRNB4 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNB4 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHRNB4 35
  • 68.67 (n)
  • 75.98 (a)
CHRNB4 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chrnb4 35
  • 64.84 (n)
  • 72.09 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC568566 35
  • 68.71 (n)
  • 67.23 (a)
CHRNB4 36
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-30D 37
  • 30 (a)
nAcRalpha-7E 37
  • 50 (a)
nAcRalpha-80B 37
  • 40 (a)
nAcRalpha-96Aa 37
  • 53 (a)
nAcRalpha-96Ab 37
  • 49 (a)
nAcRbgr-64B 37
  • 42 (a)
nAcRbgr-96A 37
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea acr-12 37
  • 34 (a)
acr-13 37
  • 30 (a)
acr-14 37
  • 28 (a)
acr-2 37
  • 45 (a)
acr-3 37
  • 37 (a)
acr-5 37
  • 26 (a)
acr-8 37
  • 34 (a)
acr-9 37
  • 32 (a)
deg-3 37
  • 26 (a)
F18G5.4 37
  • 34 (a)
lev-1 37
  • 37 (a)
unc-29 37
  • 39 (a)
unc-38 37
  • 41 (a)
Y44A6E.1 37
  • 27 (a)
Y73F8A.30 37
  • 30 (a)
ZK973.5 37
  • 33 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1655 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToMany
Species with no ortholog for CHRNB4:
  • 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

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
rs141876090 - 78,629,899(+) GGACC(A/G)GACTA intron-variant, reference, missense, utr-variant-5-prime
rs56218866 - 78,629,887(-) ACGGC(A/G)GCGTC intron-variant, reference, missense, utr-variant-5-prime
rs61737502 - 78,625,231(+) AAACA(C/T)GAACA downstream-variant-500B, reference, synonymous-codon, missense
rs12914008 - 78,631,163(+) TCCAG(A/G)TCAGG reference, missense, utr-variant-5-prime
rs1948 -- 78,625,057(-) GTGGC(C/T)GATGA downstream-variant-500B, reference, synonymous-codon, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv457208 CNV Gain 19166990
nsv1628 CNV Insertion 18451855
esv2749912 CNV Deletion 23290073
esv2059419 CNV Deletion 18987734
esv2749913 CNV Deletion 23290073
esv1211887 CNV Deletion 17803354
dgv8e24 CNV Loss 17666407
esv2750601 CNV Gain 17666407

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

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

Disorders for CHRNB4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
substance dependence
cardiac arrest
  • cardiopulmonary arrest
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. 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 23 67
  2. Neuronal nicotinic acetylcholine receptors: common molecular substrates of nicotine and alcohol dependence. (PMID: 23641218) Hendrickson L.M. … Tapper A.R. (Front Psychiatry 2013) 25 26
  3. 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 23
  4. Chromosomal localization and physical linkage of the genes encoding the human alpha 3, alpha 5, and beta 4 neuronal nicotinic receptor subunits. (PMID: 1572664) Raimondi E. … Clementi F. (Genomics 1992) 3 23
  5. Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. (PMID: 2004777) Eng C.M. … Zoghbi H.Y. (Genomics 1991) 2 3

Products for CHRNB4 Gene

Sources for CHRNB4 Gene

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