Gene Report

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Basic Info

Approved Symbol	CHRNB1
Previous Symbol	CHRNB
Approved Name	cholinergic receptor, nicotinic, beta 1 (muscle)
Previous Name	cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)
Name Alias	acetylcholine receptor, nicotinic, beta 1 (muscle)
Location	17p13.1
Position	chr17:7445061-7457707, 1
External Links	HGNC: 1961 Entrez Gene: 1140 Ensembl: ENSG00000170175 UCSC: uc002ghb.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
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: rs2302762, rs2302765, rs3853818, rs4151120, rs9217 Haplotype: rs4151120 - rs3853818 - rs2302765 - rs2302762 - rs9217(T-T-T-T-T)	rs2302762 showed nominally significant transmission bias; haploview analyses showed nominally significant transmission bias of rs4151120-rs3853818-rs2302765-rs2302762-rs9217; 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: 24)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045202	synapse	cellular component	IMP[8872460]	29
GO:0005887	integral component of plasma membrane	cellular component	NAS[8872460]	158
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0006812	cation transport	biological process	IMP[8872460]	8

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030054	cell junction	cellular component	IEA	88
GO:0003009	skeletal muscle contraction	biological process	IEA	4
GO:0001941	postsynaptic membrane organization	biological process	IMP[8651643]	2
GO:0015267	channel activity	molecular function	IMP[8872460]	4
GO:0042391	regulation of membrane potential	biological process	ISS	13
GO:0006936	muscle contraction	biological process	IMP[8651643]	10
GO:0035095	behavioral response to nicotine	biological process	IMP[16874522]	6
GO:0048747	muscle fiber development	biological process	IMP[8651643]	1
GO:0098655	cation transmembrane transport	biological process	IEA; ISS	16
GO:0015464	acetylcholine receptor activity	molecular function	IMP[8651643]	10
GO:0050877	neurological system process	biological process	IMP[11104662]	4
GO:0055085	transmembrane transport	biological process	IMP[8872460]	77
GO:0007165	signal transduction	biological process	IMP[8872460]	136
GO:0034220	ion transmembrane transport	biological process	ISS	50
GO:0007271	synaptic transmission, cholinergic	biological process	IMP[8872460]	14
GO:0015276	ligand-gated ion channel activity	molecular function	ISS	7
GO:0007274	neuromuscular synaptic transmission	biological process	IMP[8651643]	5
GO:0004889	acetylcholine-activated cation-selective channel activity	molecular function	ISS	13
GO:0042166	acetylcholine binding	molecular function	ISS	9
GO:0005892	acetylcholine-gated channel complex	cellular component	IMP[8872460]	13

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
achPathway	Role of nicotinic acetylcholine receptors in the regulation of apoptosis	6

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CHRNB1	RAPSN	NO	in vivo	16280586
CHRNB1	COPS6	NO	yeast 2-hybrid	16169070

Related other genetic factors

Gene related SNPs (count: 15)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs4151120	chr17:7438829 - 7438829(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2302765	chr17:7447656 - 7447656(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; splice_region_variant; upstream_gene_variant	1(0/1/0)
rs9217	chr17:7459769 - 7459769(1)	3_prime_UTR_variant; downstream_gene_variant	1(0/1/0)
rs3853818	chr17:7442983 - 7442983(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2302762	chr17:7455542 - 7455542(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs2302763	chr17:7455958 - 7455958(1)	downstream_gene_variant; intron_variant
rs9901900	chr17:7456438 - 7456438(1)	downstream_gene_variant; intron_variant
rs12943744	chr17:7451821 - 7451821(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs12452047	chr17:7448517 - 7448517(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs2302767	chr17:7447225 - 7447225(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs4796418	chr17:7454681 - 7454681(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs4151125	chr17:7441178 - 7441178(1)	5_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs4151134	chr17:7443804 - 7443804(1)	3_prime_UTR_variant; downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs3829603	chr17:7443723 - 7443723(1)	3_prime_UTR_variant; downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs3855924	chr17:7457004 - 7457004(1)	3_prime_UTR_variant; downstream_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)
17p13.1-17p12	chr17:6500000-16100000	1 (0/1/0)
17p13	chr17:0-10800000	3 (0/3/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr17:7445061..7457707 View in gBrowse