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-G
Approved Name	major histocompatibility complex, class I, G
Previous Name	HLA-G histocompatibility antigen, class I, G
Name Alias	b2 microglobulin
Location	6p21.3
Position	chr6:29826967-29831125, 1
External Links	HGNC: 4964 Entrez Gene: 3135 Ensembl: ENSG00000204632 UCSC: uc003nnw.2
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
Debnath, M.,2012	Other variant: rs66554220	The analysis of the HLA-G 14bp genotype distribution revealed that the homozygous state of 14bp Ins allele was significantly more prevalent in healthy controls than in BD patients.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 29)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[19946888]	137
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005102	receptor binding	molecular function	IPI[20702625]	37

GO terms by database search (count: 26)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0012507	ER to Golgi transport vesicle membrane	cellular component	TAS	3
GO:0042605	peptide antigen binding	molecular function	IBA	3
GO:0060333	interferon-gamma-mediated signaling pathway	biological process	TAS	10
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	cellular component	TAS	3
GO:0050777	negative regulation of immune response	biological process	IC[22802125]	2
GO:0006968	cellular defense response	biological process	TAS[9539768]	4
GO:0042612	MHC class I protein complex	cellular component	IEA	3
GO:0002767	immune response-inhibiting cell surface receptor signaling pathway	biological process	IDA[20702625]	1
GO:0030670	phagocytic vesicle membrane	cellular component	TAS	6
GO:0002645	positive regulation of tolerance induction	biological process	IMP[22802125]	1
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	biological process	TAS	5
GO:0001916	positive regulation of T cell mediated cytotoxicity	biological process	IEA	4
GO:0031901	early endosome membrane	cellular component	TAS	8
GO:0060337	type I interferon signaling pathway	biological process	TAS	7
GO:0002666	positive regulation of T cell tolerance induction	biological process	IMP[20448110]	1
GO:0000139	Golgi membrane	cellular component	TAS	36
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	biological process	TAS	7
GO:0042130	negative regulation of T cell proliferation	biological process	IDA[20702625]	6
GO:0050776	regulation of immune response	biological process	TAS	4
GO:0019221	cytokine-mediated signaling pathway	biological process	TAS	23
GO:0032735	positive regulation of interleukin-12 production	biological process	IDA[20702625]	5
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	biological process	TAS	3
GO:0042803	protein homodimerization activity	molecular function	IDA[22802125]; NAS[18550825]	71
GO:0042590	antigen processing and presentation of exogenous peptide antigen via MHC class I	biological process	TAS	5
GO:2001199	negative regulation of dendritic cell differentiation	biological process	IDA[20702625]	1
GO:0045591	positive regulation of regulatory T cell differentiation	biological process	IMP[20448110]	1

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: 9)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
HLA-G	B2M	NO	in vivo	9228302
HLA-G	TAP2	NO	in vivo	9103419
HLA-G	LILRB1	NO	in vitro;in vivo	9933109 , 12853576 , 12874224
HLA-G	CD8A	NO	in vitro;in vivo	1908512 , 10843658 , 10809759
HLA-G	KIR2DL4	NO	in vitro;in vivo	10190900
HLA-G	KLRD1	NO	in vivo	9405670
HLA-G	TAP1	NO	in vivo	9103419
HLA-G	COPB1	NO	in vivo	12582157
HLA-G	LILRB2	NO	in vitro	12853576 , 15670976 , 9531263 , 10190906

Related other genetic factors

Gene related SNPs (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)
rs66554220			1 (1/0/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 6	chr6:0-170805979	3 (0/3/0)
6p22	chr6:15200000-30500000	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: chr6:29826967..29831125 View in gBrowse