Gene Page: CHRNB2

Summary ?
GeneID1141
SymbolCHRNB2
SynonymsEFNL3|nAChRB2
Descriptioncholinergic receptor nicotinic beta 2 subunit
ReferenceMIM:118507|HGNC:HGNC:1962|Ensembl:ENSG00000160716|HPRD:00335|Vega:OTTHUMG00000037262
Gene typeprotein-coding
Map location1q21.3
Fetal beta0.009
DMG1 (# studies)
eGeneCerebellar Hemisphere
SupportLIGAND GATED ION SIGNALING

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IGenome scan meta-analysisPsr: 0.0235 
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.00814 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 11 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg178879361154540354CHRNB22.7E-8-0.0148.55E-6DMG:Jaffe_2016


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
SSBP30.730.75
SORCS10.700.71
KLHL320.700.67
NXPH30.690.62
EMX10.680.75
AC127496.30.650.64
TIAM20.650.69
HS3ST40.650.67
RGS60.630.66
RP1-21O18.10.630.66
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
CCDC80-0.48-0.61
RHOC-0.48-0.57
S100A16-0.46-0.55
TMEM51-0.46-0.54
BDH2-0.45-0.52
APOE-0.45-0.55
NMI-0.45-0.53
DBI-0.45-0.56
HSD17B14-0.45-0.51
SERPINB6-0.45-0.48

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0015464acetylcholine receptor activityIDANeurotransmitter (GO term level: 6)8906617 
GO:0004889nicotinic acetylcholine-activated cation-selective channel activityIDA8906617 
GO:0005515protein bindingISS-
GO:0005216ion channel activityIEA-
GO:0005230extracellular ligand-gated ion channel activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0060084synaptic transmission involved in micturitionISSneuron, Synap (GO term level: 8)-
GO:0051963regulation of synaptogenesisISSSynap (GO term level: 9)-
GO:0021631optic nerve morphogenesisISSBrain (GO term level: 9)-
GO:0032226positive regulation of synaptic transmission, dopaminergicIEAneuron, Synap, Neurotransmitter, dopamine (GO term level: 10)-
GO:0021952central nervous system projection neuron axonogenesisISSneuron, axon (GO term level: 14)-
GO:0033603positive regulation of dopamine secretionISSdopamine (GO term level: 11)-
GO:0042053regulation of dopamine metabolic processISSdopamine (GO term level: 9)-
GO:0048814regulation of dendrite morphogenesisISSdendrite (GO term level: 13)-
GO:0001666response to hypoxiaIDA12189247 
GO:0001661conditioned taste aversionIEA-
GO:0007165signal transductionIDA8906617 
GO:0008542visual learningIMP15964197 
GO:0007626locomotory behaviorISS-
GO:0007613memoryIMP15964197 
GO:0007605sensory perception of soundISS-
GO:0007601visual perceptionISS-
GO:0006816calcium ion transportISS-
GO:0006811ion transportNAS8906617 
GO:0006939smooth muscle contractionISS-
GO:0042220response to cocaineISS-
GO:0042320regulation of circadian sleep/wake cycle, REM sleepISS-
GO:0021562vestibulocochlear nerve developmentISS-
GO:0042113B cell activationISS-
GO:0030890positive regulation of B cell proliferationISS-
GO:0019233sensory perception of painISS-
GO:0021771lateral geniculate nucleus developmentISS-
GO:0035176social behaviorISS-
GO:0035095behavioral response to nicotineIMP17559419 
GO:0045759negative regulation of action potentialISS-
GO:0045188regulation of circadian sleep/wake cycle, non-REM sleepIEA-
GO:0045471response to ethanolISS-
GO:0050890cognitionIMP17559419 
GO:0051899membrane depolarizationISS-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005892nicotinic acetylcholine-gated receptor-channel complexIDANeurotransmitter (GO term level: 9)8906617 
GO:0045211postsynaptic membraneIEASynap, Neurotransmitter (GO term level: 5)-
GO:0045202synapseIEAneuron, Synap, Neurotransmitter, Glial (GO term level: 2)-
GO:0016021integral to membraneNAS8906617 
GO:0009897external side of plasma membraneISS-
GO:0005886plasma membraneIEA-
GO:0030054cell junctionIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG NEUROACTIVE LIGAND RECEPTOR INTERACTION 272195All SZGR 2.0 genes in this pathway
REACTOME TRANSMISSION ACROSS CHEMICAL SYNAPSES 186155All SZGR 2.0 genes in this pathway
REACTOME NEURONAL SYSTEM 279221All SZGR 2.0 genes in this pathway
REACTOME NEUROTRANSMITTER RECEPTOR BINDING AND DOWNSTREAM TRANSMISSION IN THE POSTSYNAPTIC CELL 137110All SZGR 2.0 genes in this pathway
REACTOME ACETYLCHOLINE BINDING AND DOWNSTREAM EVENTS 1613All SZGR 2.0 genes in this pathway
REACTOME HIGHLY CALCIUM PERMEABLE POSTSYNAPTIC NICOTINIC ACETYLCHOLINE RECEPTORS 1312All SZGR 2.0 genes in this pathway
REACTOME PRESYNAPTIC NICOTINIC ACETYLCHOLINE RECEPTORS 1210All SZGR 2.0 genes in this pathway
GINESTIER BREAST CANCER ZNF217 AMPLIFIED DN 335193All SZGR 2.0 genes in this pathway
SMID BREAST CANCER NORMAL LIKE UP 476285All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069729All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME2 491319All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 HCP WITH H3K27ME3 435318All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3K27ME3 590403All SZGR 2.0 genes in this pathway