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
il3Pathway	IL 3 signaling pathway	1
badPathway	Regulation of BAD phosphorylation	9

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

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