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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
  • Neuronal Nicotinic Receptor Beta 4 Subunit 3
  • 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

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 Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Transmission across Chemical Synapses. 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 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

Additional gene information for CHRNB4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNB4 Gene

Genomics for CHRNB4 Gene

GeneHancer (GH) Regulatory Elements for CHRNB4 Gene

Promoters and enhancers for CHRNB4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J078640 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.2 +86.0 86016 1.9 KLF17 SIN3A KLF14 ZNF335 GLIS2 EGR1 SCRT2 ZNF143 FOS EGR2 CHRNB4 IREB2 ENSG00000259562 CHRNA5 PSMA4 TBC1D2B ENSG00000261762 PIR44812 LOC646934 GC15M078021
GH15J078726 Enhancer 0.7 ENCODE 650.7 +0.7 720 0.2 PKNOX1 CLOCK LEF1 BMI1 KLF14 RFX5 ZFHX2 POLR2A VEZF1 SCRT2 CHRNB4 LOC105370913 PIR36065 ADAMTS7 MORF4L1 GC15M078021 LOC646934
GH15J078660 Promoter 0.6 EPDnew 650.2 +67.2 67176 0.1 CREB1 GC15M078663 LOC646934 PIR32831 RPL18P11 CHRNB4 PIR44812 GC15M078021
GH15J078681 Enhancer 0.6 ENCODE 12.8 +45.9 45940 0.2 POLR2A GLIS1 RCOR1 ZNF398 ZIC2 WT1 CHD2 ZBTB20 CHRNB4 PIR47221 GC15M078668 GC15M078021 LOC646934
GH15J078685 Enhancer 0.4 ENCODE 12.9 +42.0 42032 1.4 BCOR ZMYM3 ZFP91 LOC646934 CHRNB4 PIR47221 GC15M078668 GC15M078021
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for CHRNB4 Gene

Genomic Locations for CHRNB4 Gene
chr15:78,623,297-78,727,754
(GRCh38/hg38)
Size:
104,458 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 posLast=166166, posLast=138138, Asn93, and Asn36
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CHRNB4 Gene

Domains & Families for CHRNB4 Gene

Gene Families for CHRNB4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins

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

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 CONTRIBUTES_TO extracellular ligand-gated ion channel activity IBA,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

miRNA for CHRNB4 Gene

miRTarBase miRNAs that target CHRNB4

Clone 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 IEA,NAS 8906617
genes like me logo Genes that share ontologies with CHRNB4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHRNB4 Gene

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 TAS,IEA 8906617
GO:0006939 smooth muscle contraction IEA --
GO:0006940 regulation of smooth muscle contraction IEA --
GO:0007165 signal transduction IDA,IEA 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

(92) 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, Activation, Activator, Target, agonist 1188
Ethanol Approved Pharma Target 2326
Dextromethorphan Approved Pharma Target, antagonist 140
Fluoxetine Approved, Vet_approved Pharma Channel blocker, Antagonist, Inhibition, Inhibitor, Target, antagonist 245
Galantamine Approved Pharma Target, allosteric modulator Acetylcholinesterase inhibitor 106
genes like me logo Genes that share compounds with CHRNB4: view

Transcripts for CHRNB4 Gene

mRNA/cDNA for CHRNB4 Gene

Unigene Clusters for CHRNB4 Gene

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

Clone 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

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

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 33
  • 98.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNB4 34 33
  • 87.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNB4 34 33
  • 85.77 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Chrnb4 16 34 33
  • 84.69 (n)
rat
(Rattus norvegicus)
Mammalia Chrnb4 33
  • 84.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNB4 34
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHRNB4 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHRNB4 34 33
  • 68.67 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chrnb4 33
  • 64.84 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC568566 33
  • 68.71 (n)
CHRNB4 34
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-96Aa 35
  • 53 (a)
nAcRalpha-7E 35
  • 50 (a)
nAcRalpha-96Ab 35
  • 49 (a)
nAcR&bgr;-64B 35
  • 42 (a)
nAcR&bgr;-96A 35
  • 42 (a)
nAcRalpha-80B 35
  • 40 (a)
nAcRalpha-30D 35
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea acr-2 35
  • 45 (a)
unc-38 35
  • 41 (a)
unc-29 35
  • 39 (a)
lev-1 35
  • 37 (a)
acr-3 35
  • 37 (a)
acr-12 35
  • 34 (a)
acr-8 35
  • 34 (a)
F18G5.4 35
  • 34 (a)
ZK973.5 35
  • 33 (a)
acr-9 35
  • 32 (a)
acr-13 35
  • 30 (a)
Y73F8A.30 35
  • 30 (a)
acr-14 35
  • 28 (a)
Y44A6E.1 35
  • 27 (a)
acr-5 35
  • 26 (a)
deg-3 35
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToMany
Cin.1655 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1655 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for CHRNB4: view image

Paralogs for CHRNB4 Gene

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 from dbSNP and Humsavar for CHRNB4 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000166231 -- 78,650,209(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000219662 -- 78,634,982(-) G/T 5_prime_UTR_variant, intron_variant
rs1000253384 -- 78,638,577(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000268528 -- 78,656,282(-) A/G upstream_transcript_variant
rs1000270355 -- 78,635,268(-) A/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

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

Disorder Aliases PubMed IDs
substance dependence
tobacco addiction
  • tobacco addiction, susceptibility to
- 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
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 22 44 58
  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 22 58
  3. Functional interaction between Lypd6 and nicotinic acetylcholine receptors. (PMID: 27344019) Arvaniti M … Thomsen MS (Journal of neurochemistry 2016) 3 4 58
  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 44 58
  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 44 58

Products for CHRNB4 Gene

Sources for CHRNB4 Gene

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