BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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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	CSF2RB
Previous Symbol	IL3RB
Symbol Alias	IL5RB, CD131
Approved Name	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
Location	22q12.3
Position	chr22:36913628-36940449, 1
External Links	HGNC: 2436 Entrez Gene: 1439 Ensembl: ENSG00000100368 UCSC: uc003aqa.4
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Chen, P.,2011	SNP: rs11705394, rs1801117, rs2072707, rs2284031, rs4821565, rs738149, rs909486 Haplotype: rs2284031 - rs909486 - rs738149(C-T-A), rs2284031 - rs909486 - rs738149(C-T-G), rs2284031 - rs909486 - rs738149(T-C-A), rs2284031 - rs909486 - rs738149(T-C-G)	No positive signal in this gene was observed for BPAD.	Negative	Comment on Study
Moskvina, V.,2009		In BP:Smallest P-value per gene=0.00035, Product of P truncation <=0.01=0.0094, Product of P truncation <=0.001=0.00119. It showed evidence for association with BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0004872	receptor activity	molecular function	TAS[9410898]	19
GO:0005887	integral component of plasma membrane	cellular component	NAS[1702217]	158
GO:0005886	plasma membrane	cellular component	TAS	360

GO terms by database search (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030526	granulocyte macrophage colony-stimulating factor receptor complex	cellular component	TAS[9410898]	1
GO:0032496	response to lipopolysaccharide	biological process	IEA	22
GO:0005515	protein binding	molecular function	IPI[1495999]	563
GO:0004912	interleukin-3 receptor activity	molecular function	TAS[9410898]	1
GO:0007165	signal transduction	biological process	NAS[1702217]	136
GO:0004914	interleukin-5 receptor activity	molecular function	TAS[9410898]	1
GO:0038156	interleukin-3-mediated signaling pathway	biological process	TAS[9410898]	1
GO:0007585	respiratory gaseous exchange	biological process	TAS[9410898]	3
GO:0038043	interleukin-5-mediated signaling pathway	biological process	TAS[9410898]	1
GO:0036016	cellular response to interleukin-3	biological process	TAS[9410898]	2

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04210	Apoptosis	12

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04060	Cytokine-cytokine receptor interaction	17
hsa04630	Jak-STAT signaling pathway	14

Gene related BioCarta pathways (count: 2)

BioCarta pathways by PBA (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
badPathway	Regulation of BAD phosphorylation	9
il3Pathway	IL 3 signaling pathway	1

BioCarta pathways by database search (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 24)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CSF2RB	KIT	NO	in vivo	15308671
CSF2RB	PTPN6	NO	in vitro;in vivo	8246974 , 9162089 , 9254654
CSF2RB	IL3RA	NO	in vitro	8649415
CSF2RB	CSF2RA	NO	in vitro;in vivo	9211889
CSF2RB	MAD2L1	NO	in vitro;in vivo	11551900
CSF2RB	HCK	NO	in vitro;in vivo	9195918
CSF2RB	YWHAZ	NO	in vitro;in vivo	8278375 , 10477722
CSF2RB	SHC1	NO	in vitro	10704825 , 10477722
CSF2RB	JAK2	NO	in vivo	10772872
CSF2RB	LYN	NO	in vitro;in vivo	9973406 , 7636265
CSF2RB	FES	NO	in vivo	8631962
CSF2RB	CISH	NO	in vitro	7796808
CSF2RB	CSF2	NO	in vitro;in vivo	8278375 , 2645577
CSF2RB	GNB2L1	NO	in vivo;yeast 2-hybrid	10490850
CSF2RB	EPOR	NO	in vitro;in vivo	12488507
CSF2RB	IL5RA	NO	in vivo	9516124
CSF2RB	STAT1	NO	in vivo	8631962
CSF2RB	PTPN11	NO	in vitro;in vivo	9162089 , 9254654
CSF2RB	IL3	NO	in vitro;in vivo	9278420
CSF2RB	STAT3	NO	in vivo	8631962
CSF2RB	SYK	NO	in vivo	8666899
CSF2RB	PRKCB	NO	in vitro	10490850
CSF2RB	LCK	NO	in vitro	1638019 , 7896837
CSF2RB	KDR	NO	in vitro	16007196

Related other genetic factors

Gene related SNPs (count: 37)

Literature-origin SNPs (count: 7)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs909486	chr22:36927946 - 36927946(1)	intron_variant	1(0/1/0)
rs2284031	chr22:36925038 - 36925038(1)	intron_variant	1(0/1/0)
rs11705394	chr22:36933634 - 36933634(1)	downstream_gene_variant; intron_variant	1(0/1/0)
rs2072707	chr22:36923039 - 36923039(1)	intron_variant	1(0/1/0)
rs738149	chr22:36934207 - 36934207(1)	downstream_gene_variant; intron_variant	1(0/1/0)
rs1801117	chr22:36933957 - 36933957(1)	downstream_gene_variant; synonymous_variant	1(0/1/0)
rs4821565	chr22:36918373 - 36918373(1)	intron_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 30)

rs_ID	Location	Functional Annotation
rs9607390	chr22:36918491 - 36918491(1)	intron_variant; upstream_gene_variant
rs9607391	chr22:36918728 - 36918728(1)	intron_variant; upstream_gene_variant
rs4339047	chr22:36932926 - 36932926(1)	downstream_gene_variant; intron_variant
rs9607396	chr22:36919870 - 36919870(1)	intron_variant; upstream_gene_variant
rs6000495	chr22:36938911 - 36938911(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant
rs9607397	chr22:36919946 - 36919946(1)	intron_variant; upstream_gene_variant
rs2413435	chr22:36916222 - 36916222(1)	intron_variant
rs2413436	chr22:36916519 - 36916519(1)	intron_variant
rs4239882	chr22:36917966 - 36917966(1)	intron_variant; upstream_gene_variant
rs4821566	chr22:36918465 - 36918465(1)	intron_variant; upstream_gene_variant
rs1807546	chr22:36915383 - 36915383(1)	intron_variant
rs4821560	chr22:36915764 - 36915764(1)	intron_variant
rs4821561	chr22:36915835 - 36915835(1)	intron_variant
rs2899276	chr22:36916131 - 36916131(1)	intron_variant
rs2075724	chr22:36913376 - 36913376(1)	upstream_gene_variant
rs2075726	chr22:36914004 - 36914004(1)	intron_variant
rs4821559	chr22:36914227 - 36914227(1)	intron_variant
rs2049908	chr22:36915047 - 36915047(1)	intron_variant
rs2075942	chr22:36922737 - 36922737(1)	intron_variant; splice_region_variant
rs2075941	chr22:36922473 - 36922473(1)	intron_variant; upstream_gene_variant
rs5756408	chr22:36921806 - 36921806(1)	intron_variant; upstream_gene_variant
rs4820262	chr22:36921067 - 36921067(1)	intron_variant; upstream_gene_variant
rs10222238	chr22:36921972 - 36921972(1)	intron_variant; upstream_gene_variant
rs10222232	chr22:36921928 - 36921928(1)	intron_variant; upstream_gene_variant
rs4821567	chr22:36920346 - 36920346(1)	intron_variant; upstream_gene_variant
rs5756407	chr22:36920217 - 36920217(1)	intron_variant; upstream_gene_variant
rs4820261	chr22:36920907 - 36920907(1)	intron_variant; upstream_gene_variant
rs4821568	chr22:36920434 - 36920434(1)	intron_variant; upstream_gene_variant
rs1534882	chr22:36933503 - 36933503(1)	downstream_gene_variant; intron_variant
rs2413432	chr22:36909465 - 36909465(1)	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)
22q12.3-13.32	chr22:31800000-49100000	1 (0/1/0)
Chr 22	chr22:0-50818468	2 (0/1/1)
22q12.3-q13.33	chr22:31800000-50818468	1 (1/0/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 2)

Reference	Description	Result Category
19065143	It showed no evidence for association with SZ.	Negative
21247258	Our results support CSF2RB as a risk factor common to both schizophrenia and major depression in the Chinese Han population.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
17667962	540	Positive

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
21247258	Our results support CSF2RB as a risk factor common to both schizophrenia and major depression in the Chinese Han population.	Positive

Overlap with MDD from candidate gene intersection analysis (count: 1)

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Region: chr22:36913628..36940449 View in gBrowse