Gene Report

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Basic Info

Approved Symbol	CHRNB3
Approved Name	cholinergic receptor, nicotinic, beta 3 (neuronal)
Previous Name	cholinergic receptor, nicotinic, beta polypeptide 3
Name Alias	acetylcholine receptor, nicotinic, beta 3 (neuronal)
Location	8p11.21
Position	chr8:42697376-42737407, 1
External Links	HGNC: 1963 Entrez Gene: 1142 Ensembl: ENSG00000147432 UCSC: uc003xpi.1
No. of Studies	3 (Positive: 1; Negative: 2; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Fallin, M. D.,2005		4 SNP typed, Median D'=1, Median r<sup>2</sup> =0.23, 1 LD blocks, 0.88 block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA.. This gene is not suggestive to BP.	Negative	Comment on Study
Hartz, S. M.,2011	SNP: rs4952, rs4953, rs6474413	Our results suggest that (i) bipolar disorder does not modify the association between nicotine dependence and nicotinic receptor subunit genes, and (ii) variants in CHRNB3/CHRNA6 are independently associated with bipolar disorder.	Positive	Comment on Study
Shi, J., 2007	SNP: rs11783289, rs7004381, rs7017612	no evidence of interaction among these 19 cholinergic genes was found by Allelic Association, Haploview Tests, FITF analysis and FDR correction	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006812	cation transport	biological process	TAS[7690916]	8
GO:0016021	integral component of membrane	cellular component	NAS[8906617]	219
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0005886	plasma membrane	cellular component	TAS	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030054	cell junction	cellular component	IEA	88
GO:0005892	acetylcholine-gated channel complex	cellular component	IEA	13
GO:0004889	acetylcholine-activated cation-selective channel activity	molecular function	IEA	13
GO:0055085	transmembrane transport	biological process	TAS[7690916]	77
GO:0043005	neuron projection	cellular component	IEA	38
GO:0042166	acetylcholine binding	molecular function	IEA	9
GO:0098655	cation transmembrane transport	biological process	IEA; TAS[7690916]	16
GO:0015267	channel activity	molecular function	TAS[7690916]	4
GO:0006810	transport	biological process	TAS[7690916]	47
GO:0007165	signal transduction	biological process	TAS[7690916]	136
GO:0051291	protein heterooligomerization	biological process	IEA	8
GO:0008144	drug binding	molecular function	IEA	21
GO:0007271	synaptic transmission, cholinergic	biological process	TAS[7690916]	14

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 19)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs6474413	chr8:42695921 - 42695921(1)	upstream_gene_variant	1(0/1/0)
rs13277524	chr8:42694914 - 42694914(1)	upstream_gene_variant	1(0/1/0)
rs13277254	chr8:42694839 - 42694839(1)	upstream_gene_variant	1(0/1/0)
rs1530847	chr8:42693096 - 42693096(1)	upstream_gene_variant	1(0/1/0)
rs4953	chr8:42732516 - 42732516(1)	synonymous_variant	1(1/0/0)
rs7004381	chr8:42696018 - 42696018(1)	upstream_gene_variant	1(0/1/0)
rs6474412	chr8:42695355 - 42695355(1)	upstream_gene_variant	1(0/1/0)
rs1955185	chr8:42694504 - 42694504(1)	upstream_gene_variant	1(0/1/0)
rs4952	chr8:42731922 - 42731922(1)	synonymous_variant	1(1/0/0)
rs7017612	chr8:42744102 - 42744102(1)		1(0/1/0)
rs11783289	chr8:42719453 - 42719453(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs13280604	chr8:42704443 - 42704443(1)	5_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs1530848	chr8:42697765 - 42697765(1)	intron_variant; non_coding_transcript_variant
rs6474414	chr8:42705193 - 42705193(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs6997909	chr8:42705106 - 42705106(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs4950	chr8:42697490 - 42697490(1)	5_prime_UTR_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs4236926	chr8:42722916 - 42722916(1)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs6474415	chr8:42707795 - 42707795(1)	intron_variant; non_coding_transcript_variant
rs16891561	chr8:42724596 - 42724596(1)	downstream_gene_variant; intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
8p11.21-q21.13	chr8:39900000-83500000	1 (1/0/0)
Chr 8	chr8:0-145138636	3 (0/3/0)

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

Gene relationship with SZ

Reference	Description	Result Category
16380905	This gene is not suggestive to SZ/SZA.	Negative

Reference	ID in SZGene	Result Category
16380905	304	Negative

Gene relationship with MDD

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Region: chr8:42697376..42737407 View in gBrowse