• Gene id: 3135

Gene Summary

• Gene Symbol: HLA-G   Gene   UCSC   Ensembl
• Aliases: MHC-G
• Gene name: major histocompatibility complex, class I, G
• Alternate names: HLA class I histocompatibility antigen, alpha chain G, HLA G antigen, HLA-G histocompatibility antigen, class I, G, MHC class I antigen G, MHC class Ib antigen, b2 microglobulin, mutant MHC class I antigen, mutant MHC class Ib antigen,
• Gene location: 6p22.1 (29826966: 29831129)     Exons: 9     NC_000006.12
• Gene summary(Entrez): HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placenta
• OMIM: 142871

Protein Summary

• Protein general information: P17693  
  • Name: HLA class I histocompatibility antigen, alpha chain G (HLA G antigen) (MHC class I antigen G)
  • Length: 338  
  • Mass: 38,224
• Sequence:

  MVVMAPRTLFLLLSGALTLTETWAGSHSMRYFSAAVSRPGRGEPRFIAMGYVDDTQFVRFDSDSACPRMEPRAPW
  VEQEGPEYWEEETRNTKAHAQTDRMNLQTLRGYYNQSEASSHTLQWMIGCDLGSDGRLLRGYEQYAYDGKDYLAL
  NEDLRSWTAADTAAQISKRKCEAANVAEQRRAYLEGTCVEWLHRYLENGKEMLQRADPPKTHVTHHPVFDYEATL
  RCWALGFYPAEIILTWQRDGEDQTQDVELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPEPLMLRWKQ
  SSLPTIPIMGIVAGLVVLAAVVTGAAVAAVLWRKKSSD

• Structural information:
  • Protein Domains: Ig-like (209-299)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003006  IPR003597   IPR011161  IPR037055  IPR011162  IPR001039  
  • Prosite: PS50835 PS00290
  • PDB: 1YDP 2D31 2DYP 3BZE 3CDG 3CII 3KYN 3KYO
  • PDBsum: 1YDP 2D31 2DYP 3BZE 3CDG 3CII 3KYN 3KYO
  • DIP: 46121
  • STRING: ENSP00000353472
• Other Databases: GeneCards:  HLA-G  Malacards:  HLA-G

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	TAS	biological process
GO:0002645	positive regulation of tolerance induction	IMP	biological process
GO:0002666	positive regulation of T cell tolerance induction	IMP	biological process
GO:0002767	immune response-inhibiting cell surface receptor signaling pathway	IDA	biological process
GO:0003823	antigen binding	IBA	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006968	cellular defense response	TAS	biological process
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0019882	antigen processing and presentation	IBA	biological process
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0032735	positive regulation of interleukin-12 production	IDA	biological process
GO:0042130	negative regulation of T cell proliferation	IDA	biological process
GO:0042605	peptide antigen binding	IEA	molecular function
GO:0042612	MHC class I protein complex	IEA	cellular component
GO:0042803	protein homodimerization activity	NAS	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0045591	positive regulation of regulatory T cell differentiation	IMP	biological process
GO:0050776	regulation of immune response	TAS	biological process
GO:0050777	negative regulation of immune response	IC	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:2001199	negative regulation of dendritic cell differentiation	IDA	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IEA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IEA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	TAS	biological process
GO:0002645	positive regulation of tolerance induction	IMP	biological process
GO:0002666	positive regulation of T cell tolerance induction	IMP	biological process
GO:0002767	immune response-inhibiting cell surface receptor signaling pathway	IDA	biological process
GO:0003823	antigen binding	IBA	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006955	immune response	IEA	biological process
GO:0006968	cellular defense response	TAS	biological process
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019882	antigen processing and presentation	IBA	biological process
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0032735	positive regulation of interleukin-12 production	IDA	biological process
GO:0042130	negative regulation of T cell proliferation	IDA	biological process
GO:0042605	peptide antigen binding	IEA	molecular function
GO:0042612	MHC class I protein complex	IEA	cellular component
GO:0042612	MHC class I protein complex	IEA	cellular component
GO:0042803	protein homodimerization activity	NAS	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0045591	positive regulation of regulatory T cell differentiation	IMP	biological process
GO:0050776	regulation of immune response	TAS	biological process
GO:0050777	negative regulation of immune response	IC	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:2001199	negative regulation of dendritic cell differentiation	IDA	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	TAS	biological process
GO:0002645	positive regulation of tolerance induction	IMP	biological process
GO:0002666	positive regulation of T cell tolerance induction	IMP	biological process
GO:0002767	immune response-inhibiting cell surface receptor signaling pathway	IDA	biological process
GO:0003823	antigen binding	IBA	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006968	cellular defense response	TAS	biological process
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0019882	antigen processing and presentation	IBA	biological process
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0032735	positive regulation of interleukin-12 production	IDA	biological process
GO:0042130	negative regulation of T cell proliferation	IDA	biological process
GO:0042803	protein homodimerization activity	NAS	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0045591	positive regulation of regulatory T cell differentiation	IMP	biological process
GO:0050776	regulation of immune response	TAS	biological process
GO:0050777	negative regulation of immune response	IC	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:2001199	negative regulation of dendritic cell differentiation	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00600	Sphingolipid metabolism
hsa00590	Arachidonic acid metabolism
hsa00592	alpha-Linolenic acid metabolism
hsa00270	Cysteine and methionine metabolism
hsa00513	Various types of N-glycan biosynthesis
hsa00604	Glycosphingolipid biosynthesis - ganglio series
hsa03420	Nucleotide excision repair
hsa04015	Rap1 signaling pathway
hsa04010	MAPK signaling pathway
hsa04010	MAPK signaling pathway
hsa04010	MAPK signaling pathway
hsa04010	MAPK signaling pathway
hsa04350	TGF-beta signaling pathway
hsa04350	TGF-beta signaling pathway
hsa04370	VEGF signaling pathway
hsa04370	VEGF signaling pathway
hsa04371	Apelin signaling pathway
hsa04371	Apelin signaling pathway
hsa04630	JAK-STAT signaling pathway
hsa04514	Cell adhesion molecules
hsa04144	Endocytosis
hsa04145	Phagosome
hsa04218	Cellular senescence
hsa04650	Natural killer cell mediated cytotoxicity
hsa04612	Antigen processing and presentation
hsa05203	Viral carcinogenesis
hsa05320	Autoimmune thyroid disease
hsa05330	Allograft rejection
hsa05332	Graft-versus-host disease
hsa05416	Viral myocarditis
hsa04940	Type I diabetes mellitus
hsa05166	Human T-cell leukemia virus 1 infection
hsa05170	Human immunodeficiency virus 1 infection
hsa05168	Herpes simplex virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa05169	Epstein-Barr virus infection
hsa05165	Human papillomavirus infection

Diseases

Associated diseases	References
Cancer	GAD: 18721275
Cancer (cervical)	GAD: 19407850
Cancer (transitional cell)	GAD: 18721275
Cardiovascular disease	GAD: 18976687
Coronary aneurysm	GAD: 18976687
Sarcoidosis	GAD: 16933468
Arthritis	GAD: 20136356
Crohn's disease	GAD: 17446213
Multiple sclerosis	GAD: 17462509
Psoriasis	GAD: 18797896
Systemic lupus erythematosus (SLE)	GAD: 18380776
Asthma	OMIM: 142871
Autoimmune diseases	GAD: 17854427
Behcet's disease	GAD: 20622878
Behcet's disease	GAD: 17257316
Celiac disease	GAD: 20823837
Cholelithiasis	GAD: 17961331
Diabetes	GAD: 18830248
Abortion	GAD: 20587610
Chorioamnionitis	GAD: 20452482
Preeclampsia	GAD: 16867913
Early pregnancy loss	INFBASE: 22114131
Ectopic endometriosis	INFBASE: 17953947
Adenomyosis	INFBASE: 17953947
Female infertility	INFBASE: 18314122
Implantation failure	INFBASE: 26742443
Secondary unexplained infertility	INFBASE: 25764161
Recurrent implantation failure (RIF)	INFBASE: 25367742
Recurrent implantation failure (RIF)	INFBASE: 25469137
Polycystic ovary syndrome (PCOS)	INFBASE: 25403326
Reproductive disorderes	INFBASE: 18292821
Preeclampsia	INFBASE: 17493150
Recurrent pregnancy loss (RPL)	INFBASE: 20017810
Primary unexplained infertility	INFBASE: 25764161
Recurrent pregnancy loss (RPL)	INFBASE: 26061487
Ovarian endometriosis	INFBASE: 19300397
Miscarriage	INFBASE: 17493150
Recurrent pregnancy loss (RPL)	INFBASE: 15993714
Peritoneal endometriosis	INFBASE: 16311290
Recurrent pregnancy loss (RPL)	INFBASE: 15191524
Unexplained infertility	INFBASE: 23330721
Spermatogenesis defects	MIK: 24735563
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Immunoregulatory role in male reproductive system and in seminal plasma	MIK: 21813635
Reduced sperm quality	MIK: 24735563
Role in spermatogenesis	MIK: 24667226
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24735563	Reduced sperm quality	HLA-G 14 bp ins/del genotype		54 couples	Male infertility
24667226	Role in spermatogenesis				Male infertility
21813635	Immunoregulatory role in male reproductive system and in seminal plasma				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray