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Aliases for CHRNB4 Gene

Aliases for CHRNB4 Gene

  • Cholinergic Receptor, Nicotinic, Beta 4 (Neuronal) 2 3
  • Cholinergic Receptor, Nicotinic, Beta Polypeptide 4 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 (Neuronal)) is a Protein Coding gene. Diseases associated with CHRNB4 include substance dependence and nicotine dependence, protection against. Among its related pathways are Nanog in Mammalian ESC Pluripotency and 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 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Antibody Products

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:0004889 acetylcholine-activated cation-selective channel activity TAS 8906617
GO:0005230 extracellular ligand-gated ion channel activity --
GO:0008144 drug 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

miRNA for CHRNB4 Gene

miRTarBase miRNAs that target CHRNB4

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHRNB4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

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 --
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 --
GO:0006811 ion transport TAS 8906617
GO:0006812 cation transport --
GO:0006939 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: ApexBio, DrugBank, HMDB, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma Target 1708
Dextromethorphan Approved Pharma Target, antagonist 113
Galantamine Approved Pharma Target, allosteric modulator 102
Levomethadyl Acetate Approved Pharma Target, other/unknown 0
Nicotine Approved Pharma Activation, Activator, Target, agonist 923
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHRNB4

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

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

In Situ Assay 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 MAF
rs1948 -- 78,625,057(-) GTGGC(C/T)GATGA utr-variant-3-prime, synonymous-codon, reference, downstream-variant-500B
rs950776 -- 78,633,676(+) GGGTC(C/T)TTATG intron-variant, utr-variant-5-prime
rs1021070 -- 78,654,521(-) gccca(C/G)ggtta intron-variant
rs1316971 -- 78,638,168(+) CTGAC(A/G/T)GGGCT intron-variant, upstream-variant-2KB
rs2170311 -- 78,655,269(-) GATCA(C/T)GCCAC intron-variant

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: 80.15% 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

HapMap Linkage Disequilibrium report
CHRNB4
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

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

Disorder Aliases PubMed IDs
substance dependence
nicotine dependence, protection against
  • nicotine dependence
- elite association

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) 23 67
  2. Transcription deregulation at the 15q25 locus in association with lung adenocarcinoma risk. (PMID: 19223495) Falvella F.S. … Dragani T.A. (Clin. Cancer Res. 2009) 23 67
  3. 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) 23 67
  4. A nicotinic acetylcholine receptor regulating cell adhesion and motility is expressed in human keratinocytes. (PMID: 7490471) Grando S.A. … Conti-Fine B.M. (J. Invest. Dermatol. 1995) 23 67
  5. 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) 23 67

Products for CHRNB4 Gene

Sources for CHRNB4 Gene

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