Gene Report

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Basic Info

Approved Symbol	IL2RB
Previous Symbol	IL15RB
Symbol Alias	CD122
Approved Name	interleukin 2 receptor, beta
Previous Name	interleukin 15 receptor, beta
Location	22q13
Position	chr22:37125838-37175054, -1
External Links	HGNC: 6009 Entrez Gene: 3560 Ensembl: ENSG00000100385 UCSC: uc003aqv.1
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Yosifova, A.,2009	SNP: rs228942, rs84459, rs84460	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study
Fallin, M. D.,2005		7 SNP typed, Median D'=0.26, Median r<sup>2</sup> =0.01, 4 LD blocks, 0.09 block coverage, there exists SNP or haplotype nominal P-value < 0.01 in BP and all SNP or haplotype P-value > 0.05 in SZ/SZA.. This gene is highly suggestive to BP , not suggestive to SZ/SZA.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005887	integral component of plasma membrane	cellular component	TAS[8514792]	158
GO:0016020	membrane	cellular component	IDA[19946888]	137

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007165	signal transduction	biological process	TAS[2785715]	136
GO:0019976	interleukin-2 binding	molecular function	ISS	1
GO:0009897	external side of plasma membrane	cellular component	ISS	21
GO:0019221	cytokine-mediated signaling pathway	biological process	IDA[7736574]	23
GO:0016032	viral process	biological process	IEA	26
GO:0006461	protein complex assembly	biological process	TAS[2467293]	11
GO:0004911	interleukin-2 receptor activity	molecular function	IDA[7736574]; TAS[2467293]	1
GO:0038110	interleukin-2-mediated signaling pathway	biological process	IDA[7736574]; TAS[2467293]	2
GO:0043066	negative regulation of apoptotic process	biological process	IDA[7736574]	46

Gene related KEGG pathways (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)

ID	Name	No. of Genes in BDgene	Brief Description
il2Pathway	IL 2 signaling pathway	3
il2rbPathway	IL-2 Receptor Beta Chain in T cell Activation	6

Gene related interactors from protein-protein interactions data in HPRD (count: 22)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
IL2RB	LYN	NO	in vitro;in vivo	1557373
IL2RB	GNB2L1	NO	in vitro;in vivo	12960323
IL2RB	CISH	NO	in vitro;in vivo	10514520
IL2RB	STAT5B	NO	in vivo	10602027
IL2RB	GRB2	NO	in vitro	10602027
IL2RB	RAF1	NO	in vitro	1639773
IL2RB	LCK	NO	in vitro	2047859 , 10214954
IL2RB	STAT1	NO	in vivo	10602027
IL2RB	IL15	NO	in vivo	8026467 , 9176231
IL2RB	PTPN6	NO	in vitro	9520455
IL2RB	SYK	NO	in vitro	7600304
IL2RB	IL2	NO	in vivo	11035066 , 8049354
IL2RB	STAT3	NO	in vivo	10602027
IL2RB	IL2RA	NO	in vivo	11886175
IL2RB	STAT5A	NO	in vivo	10602027
IL2RB	SHC1	NO	in vitro;in vivo	10602027 , 8294403
IL2RB	IL2RG	NO	in vivo	11886175
IL2RB	SOCS1	NO	in vivo	11133764
IL2RB	JAK3	NO	in vitro;in vivo	10825200 , 7973659 , 9553136
IL2RB	SHB	NO	in vivo	12200137
IL2RB	SOCS3	NO	in vitro	10373548
IL2RB	EIF3B	NO	in vivo	7693677

Related other genetic factors

Gene related SNPs (count: 6)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs84460	chr22:37129691 - 37129691(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs228942	chr22:37128579 - 37128579(1)	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs84459	chr22:37129280 - 37129280(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs228945	chr22:37129840 - 37129840(1)	intron_variant; non_coding_transcript_variant
rs228941	chr22:37127681 - 37127681(1)	3_prime_UTR_variant; downstream_gene_variant
rs84458	chr22:37129168 - 37129168(1)	intron_variant; non_coding_transcript_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

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

Gene relationship with MDD

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Region: chr22:37125838..37175054 View in gBrowse