Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CHRNB3 (cholinergic receptor nicotinic beta 3 subunit)

Identity

Alias_namesnicotinic
beta 3 (neuronal)
Other alias-
HGNC (Hugo) CHRNB3
LocusID (NCBI) 1142
Atlas_Id 52438
Location 8p11.21  [Link to chromosome band 8p11]
Location_base_pair Starts at 42552562 and ends at 42592209 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HEATR3 (16q12.1) / CHRNB3 (8p11.21)HEATR3 16q12.1 / CHRNB3 8p11.21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CHRNB3   1963
Cards
Entrez_Gene (NCBI)CHRNB3  1142  cholinergic receptor nicotinic beta 3 subunit
Aliases
GeneCards (Weizmann)CHRNB3
Ensembl hg19 (Hinxton)ENSG00000147432 [Gene_View]  chr8:42552562-42592209 [Contig_View]  CHRNB3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000147432 [Gene_View]  chr8:42552562-42592209 [Contig_View]  CHRNB3 [Vega]
ICGC DataPortalENSG00000147432
TCGA cBioPortalCHRNB3
AceView (NCBI)CHRNB3
Genatlas (Paris)CHRNB3
WikiGenes1142
SOURCE (Princeton)CHRNB3
Genetics Home Reference (NIH)CHRNB3
Genomic and cartography
GoldenPath hg19 (UCSC)CHRNB3  -     chr8:42552562-42592209 +  8p11.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CHRNB3  -     8p11.21   [Description]    (hg38-Dec_2013)
EnsemblCHRNB3 - 8p11.21 [CytoView hg19]  CHRNB3 - 8p11.21 [CytoView hg38]
Mapping of homologs : NCBICHRNB3 [Mapview hg19]  CHRNB3 [Mapview hg38]
OMIM118508   
Gene and transcription
Genbank (Entrez)BC069681 BC069703 BC069788 HQ447438 U62438
RefSeq transcript (Entrez)NM_000749
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_167187 NW_004929337
Consensus coding sequences : CCDS (NCBI)CHRNB3
Cluster EST : UnigeneHs.654576 [ NCBI ]
CGAP (NCI)Hs.654576
Alternative Splicing GalleryENSG00000147432
Gene ExpressionCHRNB3 [ NCBI-GEO ]   CHRNB3 [ EBI - ARRAY_EXPRESS ]   CHRNB3 [ SEEK ]   CHRNB3 [ MEM ]
Gene Expression Viewer (FireBrowse)CHRNB3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1142
GTEX Portal (Tissue expression)CHRNB3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ05901   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ05901  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ05901
Splice isoforms : SwissVarQ05901
PhosPhoSitePlusQ05901
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)Acetylcholine_rcpt_TM    Neur_chan_lig-bd    Neur_channel    Neurotrans-gated_channel_TM    Neurotransmitter_ion_chnl_CS    Nicotinic_acetylcholine_rcpt   
Domain families : Pfam (Sanger)Neur_chan_LBD (PF02931)    Neur_chan_memb (PF02932)   
Domain families : Pfam (NCBI)pfam02931    pfam02932   
Conserved Domain (NCBI)CHRNB3
DMDM Disease mutations1142
Blocks (Seattle)CHRNB3
SuperfamilyQ05901
Human Protein AtlasENSG00000147432
Peptide AtlasQ05901
HPRD00336
IPIIPI00016662   IPI00984581   
Protein Interaction databases
DIP (DOE-UCLA)Q05901
IntAct (EBI)Q05901
FunCoupENSG00000147432
BioGRIDCHRNB3
STRING (EMBL)CHRNB3
ZODIACCHRNB3
Ontologies - Pathways
QuickGOQ05901
Ontology : AmiGOacetylcholine-activated cation-selective channel activity  plasma membrane  acetylcholine-gated channel complex  transport  signal transduction  synaptic transmission, cholinergic  neuromuscular synaptic transmission  drug binding  channel activity  ligand-gated ion channel activity  acetylcholine receptor activity  integral component of membrane  cell junction  ion transmembrane transport  response to nicotine  acetylcholine binding  neuron projection  postsynaptic membrane  protein heterooligomerization  transmembrane transport  cation transmembrane transport  cation transmembrane transport  chemical synaptic transmission, postsynaptic  
Ontology : EGO-EBIacetylcholine-activated cation-selective channel activity  plasma membrane  acetylcholine-gated channel complex  transport  signal transduction  synaptic transmission, cholinergic  neuromuscular synaptic transmission  drug binding  channel activity  ligand-gated ion channel activity  acetylcholine receptor activity  integral component of membrane  cell junction  ion transmembrane transport  response to nicotine  acetylcholine binding  neuron projection  postsynaptic membrane  protein heterooligomerization  transmembrane transport  cation transmembrane transport  cation transmembrane transport  chemical synaptic transmission, postsynaptic  
Pathways : KEGGNeuroactive ligand-receptor interaction   
NDEx NetworkCHRNB3
Atlas of Cancer Signalling NetworkCHRNB3
Wikipedia pathwaysCHRNB3
Orthology - Evolution
OrthoDB1142
GeneTree (enSembl)ENSG00000147432
Phylogenetic Trees/Animal Genes : TreeFamCHRNB3
HOVERGENQ05901
HOGENOMQ05901
Homologs : HomoloGeneCHRNB3
Homology/Alignments : Family Browser (UCSC)CHRNB3
Gene fusions - Rearrangements
Fusion : MitelmanHEATR3/CHRNB3 [16q12.1/8p11.21]  [t(8;16)(p11;q12)]  
Fusion: TCGAHEATR3 16q12.1 CHRNB3 8p11.21 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHRNB3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHRNB3
dbVarCHRNB3
ClinVarCHRNB3
1000_GenomesCHRNB3 
Exome Variant ServerCHRNB3
ExAC (Exome Aggregation Consortium)CHRNB3 (select the gene name)
Genetic variants : HAPMAP1142
Genomic Variants (DGV)CHRNB3 [DGVbeta]
DECIPHER (Syndromes)8:42552562-42592209  ENSG00000147432
CONAN: Copy Number AnalysisCHRNB3 
Mutations
ICGC Data PortalCHRNB3 
TCGA Data PortalCHRNB3 
Broad Tumor PortalCHRNB3
OASIS PortalCHRNB3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHRNB3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHRNB3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CHRNB3
DgiDB (Drug Gene Interaction Database)CHRNB3
DoCM (Curated mutations)CHRNB3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHRNB3 (select a term)
intoGenCHRNB3
Cancer3DCHRNB3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118508   
Orphanet
MedgenCHRNB3
Genetic Testing Registry CHRNB3
NextProtQ05901 [Medical]
TSGene1142
GENETestsCHRNB3
Huge Navigator CHRNB3 [HugePedia]
snp3D : Map Gene to Disease1142
BioCentury BCIQCHRNB3
ClinGenCHRNB3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1142
Chemical/Pharm GKB GenePA26495
Clinical trialCHRNB3
Miscellaneous
canSAR (ICR)CHRNB3 (select the gene name)
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHRNB3
EVEXCHRNB3
GoPubMedCHRNB3
iHOPCHRNB3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:56:34 CEST 2017

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