Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	CHRNB2
Approved Name	cholinergic receptor, nicotinic, beta 2 (neuronal)
Previous Name	cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)
Name Alias	acetylcholine receptor, nicotinic, beta 2 (neuronal)
Location	1q21.3
Position	chr1:154567781-154580026, 1
External Links	HGNC: 1962 Entrez Gene: 1141 Ensembl: ENSG00000160716 UCSC: uc001ffg.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Shi, J., 2007	SNP: rs1127317, rs2072660	rs7017417 showed nominally significant transmission bias; haploview analyses showed nominally significant transmission bias of rs9314347-rs891397; no evidence of interaction among these 19 cholinergic genes by FITF analysis and FDR correction was found	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 57)

GO terms by PBA (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006816	calcium ion transport	biological process	ISS	14
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0030890	positive regulation of B cell proliferation	biological process	ISS	3
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0016021	integral component of membrane	cellular component	NAS[8906617]	219
GO:0006811	ion transport	biological process	NAS[8906617]	18

GO terms by database search (count: 50)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005892	acetylcholine-gated channel complex	cellular component	IDA[8906617]	13
GO:0045759	negative regulation of action potential	biological process	ISS	3
GO:0051963	regulation of synapse assembly	biological process	ISS	3
GO:0034220	ion transmembrane transport	biological process	TAS[20438829]	50
GO:0042166	acetylcholine binding	molecular function	IC[8906617]; IMP[15964197]	9
GO:0035176	social behavior	biological process	ISS	17
GO:0042053	regulation of dopamine metabolic process	biological process	ISS	6
GO:0007612	learning	biological process	IMP[15964197]	18
GO:0050877	neurological system process	biological process	IMP[17900292]	4
GO:0030054	cell junction	cellular component	IEA	88
GO:0008542	visual learning	biological process	IMP[15964197]	17
GO:0004889	acetylcholine-activated cation-selective channel activity	molecular function	IDA[8906617]; TAS[20438829]	13
GO:0050890	cognition	biological process	IMP[17559419]	11
GO:0008144	drug binding	molecular function	IEA	21
GO:0014059	regulation of dopamine secretion	biological process	ISS	8
GO:0060084	synaptic transmission involved in micturition	biological process	ISS	3
GO:0007613	memory	biological process	IMP[15964197]	22
GO:0035095	behavioral response to nicotine	biological process	IMP[17559419]	6
GO:0042113	B cell activation	biological process	ISS	3
GO:0042320	regulation of circadian sleep/wake cycle, REM sleep	biological process	ISS	1
GO:0001666	response to hypoxia	biological process	IDA[12189247]	24
GO:0042220	response to cocaine	biological process	ISS	12
GO:0007165	signal transduction	biological process	IDA[8906617]	136
GO:0051899	membrane depolarization	biological process	ISS	9
GO:0035094	response to nicotine	biological process	IDA[12189247]	10
GO:0001661	conditioned taste aversion	biological process	IEA	4
GO:0015464	acetylcholine receptor activity	molecular function	IDA[8906617]	10
GO:0001508	action potential	biological process	IEA	6
GO:0007601	visual perception	biological process	ISS	15
GO:0008306	associative learning	biological process	ISS	8
GO:0015276	ligand-gated ion channel activity	molecular function	TAS[20438829]	7
GO:0021771	lateral geniculate nucleus development	biological process	ISS	1
GO:0021562	vestibulocochlear nerve development	biological process	ISS	1
GO:0045471	response to ethanol	biological process	ISS	24
GO:0098655	cation transmembrane transport	biological process	IDA[8906617]; IEA; TAS[20438829]	16
GO:0032225	regulation of synaptic transmission, dopaminergic	biological process	ISS	1
GO:0006939	smooth muscle contraction	biological process	ISS	7
GO:0045188	regulation of circadian sleep/wake cycle, non-REM sleep	biological process	IEA	2
GO:0007626	locomotory behavior	biological process	ISS	23
GO:0051291	protein heterooligomerization	biological process	IEA	8
GO:0007605	sensory perception of sound	biological process	ISS	18
GO:0019233	sensory perception of pain	biological process	ISS	15
GO:0046982	protein heterodimerization activity	molecular function	IEA	42
GO:0021631	optic nerve morphogenesis	biological process	ISS	2
GO:0048814	regulation of dendrite morphogenesis	biological process	ISS	4
GO:0007271	synaptic transmission, cholinergic	biological process	ISS	14
GO:0021952	central nervous system projection neuron axonogenesis	biological process	ISS	2
GO:0009897	external side of plasma membrane	cellular component	ISS	21
GO:0033603	positive regulation of dopamine secretion	biological process	ISS	4
GO:0032226	positive regulation of synaptic transmission, dopaminergic	biological process	IEA	2

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CHRNB2	CHRNA2	YES	in vivo	8906617
CHRNB2	CHRNA4	YES	in vivo	15944128
CHRNB2	CRELD2	YES	yeast 2-hybrid	16238698

Related other genetic factors

Gene related SNPs (count: 6)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1127317	chr1:154583564 - 154583564(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant	1(0/1/0)
rs2072660	chr1:154576245 - 154576245(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 4)

rs_ID	Location	Functional Annotation
rs11264222	chr1:154581881 - 154581881(1)	downstream_gene_variant; upstream_gene_variant
rs1127326	chr1:154583016 - 154583016(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs6656743	chr1:154580974 - 154580974(1)	downstream_gene_variant; upstream_gene_variant
rs1127314	chr1:154583790 - 154583790(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
1p13.2-1q21.3	chr1:111200000-155100000	1 (1/0/0)
1p32.1-q31.1	chr1:58500000-190800000	1 (0/1/0)
Chr 1	chr1:0-248956422	2 (0/2/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 2)

Reference	ID in SZGene	Result Category
18762859	740	Negative
16636791	740	Negative

Gene relationship with MDD

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Region: chr1:154567781..154580026 View in gBrowse