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	HLA-B
Previous Symbol	AS
Approved Name	major histocompatibility complex, class I, B
Previous Name	ankylosing spondylitis
Location	6p21.3
Position	chr6:31353872-31357188, -1
External Links	HGNC: 4932 Entrez Gene: 3106 Ensembl: ENSG00000234745 UCSC: uc011gwy.2
No. of Studies	2 (Positive: 0; Negative: 1; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Ross, K. A.,2011	SNP: rs9378249	Suggestive association was found at rs9378249.	Trend	Comment on Study
Jun, T. Y.,2002	Other variant: HLA-B_polymorphism	The results of the present study suggest that HLA alleles may not confer susceptibility to bipolar disorder in the Korean population.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 38)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0016020	membrane	cellular component	IDA[19946888]; TAS[3011411]	137
GO:0005102	receptor binding	molecular function	IBA; IPI[20008523]	37
GO:0005887	integral component of plasma membrane	cellular component	NAS[518865]	158
GO:0045087	innate immune response	biological process	TAS	49

GO terms by database search (count: 32)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0051087	chaperone binding	molecular function	IPI[15056662]	10
GO:0002486	antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent	biological process	IDA[22031944]	2
GO:0002667	regulation of T cell anergy	biological process	IMP[20008523]	1
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	cellular component	TAS	3
GO:0060337	type I interferon signaling pathway	biological process	TAS	7
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	biological process	TAS	5
GO:0006955	immune response	biological process	IEA; IMP[22321387]; NAS[518865]	19
GO:0001916	positive regulation of T cell mediated cytotoxicity	biological process	IDA[2420472]; IEA	4
GO:0042612	MHC class I protein complex	cellular component	IDA[22031944]; ISS	3
GO:0032675	regulation of interleukin-6 production	biological process	IMP[20008523]	1
GO:0050776	regulation of immune response	biological process	TAS	4
GO:0016045	detection of bacterium	biological process	IMP[22321387]	2
GO:0012507	ER to Golgi transport vesicle membrane	cellular component	TAS	3
GO:0046977	TAP binding	molecular function	IDA[8617941]; IDA[8617941]	2
GO:0000139	Golgi membrane	cellular component	TAS	36
GO:0042605	peptide antigen binding	molecular function	IBA; IDA[22031944]; ISS	3
GO:0070062	extracellular vesicular exosome	cellular component	IDA[12519789]	176
GO:0042270	protection from natural killer cell mediated cytotoxicity	biological process	IDA[2784569]	2
GO:0019221	cytokine-mediated signaling pathway	biological process	TAS	23
GO:0031901	early endosome membrane	cellular component	TAS	8
GO:0030670	phagocytic vesicle membrane	cellular component	TAS	6
GO:0032655	regulation of interleukin-12 production	biological process	IMP[20008523]	1
GO:2001198	regulation of dendritic cell differentiation	biological process	IMP[20008523]	1
GO:0060333	interferon-gamma-mediated signaling pathway	biological process	TAS	10
GO:0009986	cell surface	cellular component	IDA[22031944]; ISS	40
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	biological process	IEA; TAS	7
GO:0005794	Golgi apparatus	cellular component	IDA[20946353]; ISS	60
GO:0006952	defense response	biological process	TAS[3011411]	2
GO:0005783	endoplasmic reticulum	cellular component	IDA[20946353]; ISS	49
GO:0042590	antigen processing and presentation of exogenous peptide antigen via MHC class I	biological process	TAS	5
GO:0016032	viral process	biological process	IEA	26
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	biological process	TAS	3

Gene related KEGG pathways (count: 7)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04514	Cell adhesion molecules (CAMs)	14

KEGG pathways by database search (count: 6)

ID	Name	No. of Genes in BDgene
hsa05320	Autoimmune thyroid disease	6
hsa05330	Allograft rejection	6
hsa05332	Graft-versus-host disease	7
hsa04650	Natural killer cell mediated cytotoxicity	13
hsa04940	Type I diabetes mellitus	10
hsa04612	Antigen processing and presentation	7

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 13)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
HLA-B	TRB@	NO	in vitro	12530975
HLA-B	LILRB1	NO	in vitro	12853576
HLA-B	LILRB2	NO	in vitro	12853576 , 9531263
HLA-B	TRA@	NO	in vitro	12530975
HLA-B	ATF7IP	NO	yeast 2-hybrid	15231748
HLA-B	KLRD1	NO	in vivo	8046333
HLA-B	KIR3DL1	NO	in vivo	8046332
HLA-B	MAGEA1	NO	in vitro	10363990
HLA-B	CD8A	NO	in vitro	9331948 , 10809759
HLA-B	CSF1	NO	in vitro	15494511
HLA-B	B2M	NO	in vitro	11738047 , 2450918
HLA-B	SRC	NO	in vitro	6304688
HLA-B	KIR3DS1	NO	in vitro;in vivo	12134147

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs9378249	chrCHR_HSCHR6_MHC_SSTO_CTG1:31353627 - 31353627(1)	downstream_gene_variant; upstream_gene_variant	2(1/0/1)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
HLA-B_polymorphism	others		1 (0/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 6	chr6:0-170805979	3 (0/3/0)
6p21	chr6:30500000-46200000	1 (0/1/0)
6p23-p21.1	chr6:13400000-46200000	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr6:31353872..31357188 View in gBrowse