Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CHRNB2 (cholinergic receptor nicotinic beta 2 subunit)

Identity

Alias_namesnicotinic
beta 2 (neuronal)
Other aliasEFNL3
nAChRB2
HGNC (Hugo) CHRNB2
LocusID (NCBI) 1141
Atlas_Id 56281
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 154567781 and ends at 154579877 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CHRNB2 (1q21.3) / CA11 (19q13.33)

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)CHRNB2   1962
Cards
Entrez_Gene (NCBI)CHRNB2  1141  cholinergic receptor nicotinic beta 2 subunit
AliasesEFNL3; nAChRB2
GeneCards (Weizmann)CHRNB2
Ensembl hg19 (Hinxton)ENSG00000160716 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160716 [Gene_View]  chr1:154567781-154579877 [Contig_View]  CHRNB2 [Vega]
ICGC DataPortalENSG00000160716
TCGA cBioPortalCHRNB2
AceView (NCBI)CHRNB2
Genatlas (Paris)CHRNB2
WikiGenes1141
SOURCE (Princeton)CHRNB2
Genetics Home Reference (NIH)CHRNB2
Genomic and cartography
GoldenPath hg38 (UCSC)CHRNB2  -     chr1:154567781-154579877 +  1q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHRNB2  -     1q21.3   [Description]    (hg19-Feb_2009)
EnsemblCHRNB2 - 1q21.3 [CytoView hg19]  CHRNB2 - 1q21.3 [CytoView hg38]
Mapping of homologs : NCBICHRNB2 [Mapview hg19]  CHRNB2 [Mapview hg38]
OMIM118507   605375   
Gene and transcription
Genbank (Entrez)AK313470 BC075040 BC075041 R40506 U62437
RefSeq transcript (Entrez)NM_000748
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHRNB2
Cluster EST : UnigeneHs.2306 [ NCBI ]
CGAP (NCI)Hs.2306
Alternative Splicing GalleryENSG00000160716
Gene ExpressionCHRNB2 [ NCBI-GEO ]   CHRNB2 [ EBI - ARRAY_EXPRESS ]   CHRNB2 [ SEEK ]   CHRNB2 [ MEM ]
Gene Expression Viewer (FireBrowse)CHRNB2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1141
GTEX Portal (Tissue expression)CHRNB2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17787   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP17787  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17787
Splice isoforms : SwissVarP17787
PhosPhoSitePlusP17787
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)Acetylcholine_rcpt_TM    CHRNB2    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)CHRNB2
DMDM Disease mutations1141
Blocks (Seattle)CHRNB2
PDB (SRS)2GVT    2K58    2K59    2KSR    2LM2    5KXI   
PDB (PDBSum)2GVT    2K58    2K59    2KSR    2LM2    5KXI   
PDB (IMB)2GVT    2K58    2K59    2KSR    2LM2    5KXI   
PDB (RSDB)2GVT    2K58    2K59    2KSR    2LM2    5KXI   
Structural Biology KnowledgeBase2GVT    2K58    2K59    2KSR    2LM2    5KXI   
SCOP (Structural Classification of Proteins)2GVT    2K58    2K59    2KSR    2LM2    5KXI   
CATH (Classification of proteins structures)2GVT    2K58    2K59    2KSR    2LM2    5KXI   
SuperfamilyP17787
Human Protein AtlasENSG00000160716
Peptide AtlasP17787
HPRD00335
IPIIPI00016869   
Protein Interaction databases
DIP (DOE-UCLA)P17787
IntAct (EBI)P17787
FunCoupENSG00000160716
BioGRIDCHRNB2
STRING (EMBL)CHRNB2
ZODIACCHRNB2
Ontologies - Pathways
QuickGOP17787
Ontology : AmiGOaction potential  conditioned taste aversion  response to hypoxia  protein binding  plasma membrane  acetylcholine-gated channel complex  ion transport  calcium ion transport  smooth muscle contraction  signal transduction  synaptic transmission, cholinergic  synaptic transmission, cholinergic  neuromuscular synaptic transmission  visual perception  sensory perception of sound  learning  memory  locomotory behavior  drug binding  associative learning  visual learning  external side of plasma membrane  regulation of dopamine secretion  ligand-gated ion channel activity  ligand-gated ion channel activity  acetylcholine receptor activity  acetylcholine receptor activity  integral component of membrane  sensory perception of pain  vestibulocochlear nerve development  optic nerve morphogenesis  lateral geniculate nucleus development  central nervous system projection neuron axonogenesis  acetylcholine-gated cation-selective channel activity  acetylcholine-gated cation-selective channel activity  acetylcholine-gated cation-selective channel activity  cell junction  positive regulation of B cell proliferation  regulation of synaptic transmission, dopaminergic  positive regulation of synaptic transmission, dopaminergic  positive regulation of dopamine secretion  response to nicotine  behavioral response to nicotine  social behavior  regulation of dopamine metabolic process  B cell activation  acetylcholine binding  acetylcholine binding  response to cocaine  regulation of circadian sleep/wake cycle, REM sleep  plasma membrane raft  regulation of circadian sleep/wake cycle, non-REM sleep  postsynaptic membrane  response to ethanol  negative regulation of action potential  protein heterodimerization activity  regulation of dendrite morphogenesis  neurological system process  cognition  protein heterooligomerization  membrane depolarization  regulation of synapse assembly  excitatory postsynaptic potential  synaptic transmission involved in micturition  acetylcholine receptor signaling pathway  cation transmembrane transport  response to acetylcholine  
Ontology : EGO-EBIaction potential  conditioned taste aversion  response to hypoxia  protein binding  plasma membrane  acetylcholine-gated channel complex  ion transport  calcium ion transport  smooth muscle contraction  signal transduction  synaptic transmission, cholinergic  synaptic transmission, cholinergic  neuromuscular synaptic transmission  visual perception  sensory perception of sound  learning  memory  locomotory behavior  drug binding  associative learning  visual learning  external side of plasma membrane  regulation of dopamine secretion  ligand-gated ion channel activity  ligand-gated ion channel activity  acetylcholine receptor activity  acetylcholine receptor activity  integral component of membrane  sensory perception of pain  vestibulocochlear nerve development  optic nerve morphogenesis  lateral geniculate nucleus development  central nervous system projection neuron axonogenesis  acetylcholine-gated cation-selective channel activity  acetylcholine-gated cation-selective channel activity  acetylcholine-gated cation-selective channel activity  cell junction  positive regulation of B cell proliferation  regulation of synaptic transmission, dopaminergic  positive regulation of synaptic transmission, dopaminergic  positive regulation of dopamine secretion  response to nicotine  behavioral response to nicotine  social behavior  regulation of dopamine metabolic process  B cell activation  acetylcholine binding  acetylcholine binding  response to cocaine  regulation of circadian sleep/wake cycle, REM sleep  plasma membrane raft  regulation of circadian sleep/wake cycle, non-REM sleep  postsynaptic membrane  response to ethanol  negative regulation of action potential  protein heterodimerization activity  regulation of dendrite morphogenesis  neurological system process  cognition  protein heterooligomerization  membrane depolarization  regulation of synapse assembly  excitatory postsynaptic potential  synaptic transmission involved in micturition  acetylcholine receptor signaling pathway  cation transmembrane transport  response to acetylcholine  
Pathways : KEGGNeuroactive ligand-receptor interaction    Cholinergic synapse    Nicotine addiction   
NDEx NetworkCHRNB2
Atlas of Cancer Signalling NetworkCHRNB2
Wikipedia pathwaysCHRNB2
Orthology - Evolution
OrthoDB1141
GeneTree (enSembl)ENSG00000160716
Phylogenetic Trees/Animal Genes : TreeFamCHRNB2
HOVERGENP17787
HOGENOMP17787
Homologs : HomoloGeneCHRNB2
Homology/Alignments : Family Browser (UCSC)CHRNB2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHRNB2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHRNB2
dbVarCHRNB2
ClinVarCHRNB2
1000_GenomesCHRNB2 
Exome Variant ServerCHRNB2
ExAC (Exome Aggregation Consortium)CHRNB2 (select the gene name)
Genetic variants : HAPMAP1141
Genomic Variants (DGV)CHRNB2 [DGVbeta]
DECIPHERCHRNB2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHRNB2 
Mutations
ICGC Data PortalCHRNB2 
TCGA Data PortalCHRNB2 
Broad Tumor PortalCHRNB2
OASIS PortalCHRNB2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHRNB2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHRNB2
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 CHRNB2
DgiDB (Drug Gene Interaction Database)CHRNB2
DoCM (Curated mutations)CHRNB2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHRNB2 (select a term)
intoGenCHRNB2
Cancer3DCHRNB2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118507    605375   
Orphanet13801   
MedgenCHRNB2
Genetic Testing Registry CHRNB2
NextProtP17787 [Medical]
TSGene1141
GENETestsCHRNB2
Huge Navigator CHRNB2 [HugePedia]
snp3D : Map Gene to Disease1141
BioCentury BCIQCHRNB2
ClinGenCHRNB2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1141
Chemical/Pharm GKB GenePA115
Clinical trialCHRNB2
Miscellaneous
canSAR (ICR)CHRNB2 (select the gene name)
Probes
Litterature
PubMed109 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHRNB2
EVEXCHRNB2
GoPubMedCHRNB2
iHOPCHRNB2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri May 19 12:10:37 CEST 2017

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