Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3135
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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, b2 microglobulin,
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 placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]
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

Tissue specificity: Expressed in trophoblasts.

Sequence MVVMAPRTLFLLLSGALTLTETWAGSHSMRYFSAAVSRPGRGEPRFIAMGYVDDTQFVRFDSDSACPRMEPRAPW
VEQEGPEYWEEETRNTKAHAQTDRMNLQTLRGYYNQSEASSHTLQWMIGCDLGSDGRLLRGYEQYAYDGKDYLAL
NEDLRSWTAADTAAQISKRKCEAANVAEQRRAYLEGTCVEWLHRYLENGKEMLQRADPPKTHVTHHPVFDYEATL
RCWALGFYPAEIILTWQRDGEDQTQDVELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPEPLMLRWKQ
SSLPTIPIMGIVAGLVVLAAVVTGAAVAAVLWRKKSSD
Structural information
Protein Domains
Ig-like (209-299)
Interpro:  IPR007110 IPR013783 IPR003006 IPR003597 IPR011161 IPR011162 IPR001039
Prosite:   PS50835 PS00290

Pfam:  
PF07654 PF00129

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 accessionTerm nameEvidence codeGo category
GO:0000139 Golgi membrane
TAS cellular_component
GO:0000139 Golgi membrane
TAS cellular_component
GO:0002474 antigen processing and pr
esentation of peptide ant
igen via MHC class I
TAS biological_process
GO:0002479 antigen processing and pr
esentation of exogenous p
eptide antigen via MHC cl
ass I, TAP-dependent
TAS biological_process
GO:0002480 antigen processing and pr
esentation of exogenous p
eptide antigen via MHC cl
ass I, TAP-independent
TAS biological_process
GO:0002645 positive regulation of to
lerance induction
IMP biological_process
GO:0002666 positive regulation of T
cell tolerance induction
IMP biological_process
GO:0002767 immune response-inhibitin
g cell surface receptor s
ignaling 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 ves
icle membrane
TAS cellular_component
GO:0012507 ER to Golgi transport ves
icle membrane
TAS cellular_component
GO:0012507 ER to Golgi transport ves
icle membrane
TAS cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0019882 antigen processing and pr
esentation
IBA biological_process
GO:0030670 phagocytic vesicle membra
ne
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 in
terleukin-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 compl
ex
IEA cellular_component
GO:0042803 protein homodimerization
activity
NAS molecular_function
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0045591 positive regulation of re
gulatory T cell different
iation
IMP biological_process
GO:0050776 regulation of immune resp
onse
TAS biological_process
GO:0050777 negative regulation of im
mune response
IC biological_process
GO:0060333 interferon-gamma-mediated
signaling pathway
TAS biological_process
GO:0060337 type I interferon signali
ng pathway
TAS biological_process
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:2001199 negative regulation of de
ndritic cell differentiat
ion
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 pr
esentation of peptide ant
igen via MHC class I
IEA biological_process
GO:0002474 antigen processing and pr
esentation of peptide ant
igen via MHC class I
IEA biological_process
GO:0002474 antigen processing and pr
esentation of peptide ant
igen via MHC class I
TAS biological_process
GO:0002479 antigen processing and pr
esentation of exogenous p
eptide antigen via MHC cl
ass I, TAP-dependent
TAS biological_process
GO:0002480 antigen processing and pr
esentation of exogenous p
eptide antigen via MHC cl
ass I, TAP-independent
TAS biological_process
GO:0002645 positive regulation of to
lerance induction
IMP biological_process
GO:0002666 positive regulation of T
cell tolerance induction
IMP biological_process
GO:0002767 immune response-inhibitin
g cell surface receptor s
ignaling 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 ves
icle membrane
TAS cellular_component
GO:0012507 ER to Golgi transport ves
icle membrane
TAS cellular_component
GO:0012507 ER to Golgi transport ves
icle 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 mem
brane
IEA cellular_component
GO:0019882 antigen processing and pr
esentation
IBA biological_process
GO:0030670 phagocytic vesicle membra
ne
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 in
terleukin-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 compl
ex
IEA cellular_component
GO:0042612 MHC class I protein compl
ex
IEA cellular_component
GO:0042803 protein homodimerization
activity
NAS molecular_function
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0045591 positive regulation of re
gulatory T cell different
iation
IMP biological_process
GO:0050776 regulation of immune resp
onse
TAS biological_process
GO:0050777 negative regulation of im
mune response
IC biological_process
GO:0060333 interferon-gamma-mediated
signaling pathway
TAS biological_process
GO:0060337 type I interferon signali
ng pathway
TAS biological_process
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:2001199 negative regulation of de
ndritic cell differentiat
ion
IDA biological_process
GO:0000139 Golgi membrane
TAS cellular_component
GO:0000139 Golgi membrane
TAS cellular_component
GO:0002474 antigen processing and pr
esentation of peptide ant
igen via MHC class I
TAS biological_process
GO:0002479 antigen processing and pr
esentation of exogenous p
eptide antigen via MHC cl
ass I, TAP-dependent
TAS biological_process
GO:0002480 antigen processing and pr
esentation of exogenous p
eptide antigen via MHC cl
ass I, TAP-independent
TAS biological_process
GO:0002645 positive regulation of to
lerance induction
IMP biological_process
GO:0002666 positive regulation of T
cell tolerance induction
IMP biological_process
GO:0002767 immune response-inhibitin
g cell surface receptor s
ignaling 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 ves
icle membrane
TAS cellular_component
GO:0012507 ER to Golgi transport ves
icle membrane
TAS cellular_component
GO:0012507 ER to Golgi transport ves
icle membrane
TAS cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0019882 antigen processing and pr
esentation
IBA biological_process
GO:0030670 phagocytic vesicle membra
ne
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 in
terleukin-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 re
gulatory T cell different
iation
IMP biological_process
GO:0050776 regulation of immune resp
onse
TAS biological_process
GO:0050777 negative regulation of im
mune response
IC biological_process
GO:0060333 interferon-gamma-mediated
signaling pathway
TAS biological_process
GO:0060337 type I interferon signali
ng pathway
TAS biological_process
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:0071556 integral component of lum
enal side of endoplasmic
reticulum membrane
TAS cellular_component
GO:2001199 negative regulation of de
ndritic cell differentiat
ion
IDA biological_process

KEGG pathways

hsa05166  HTLV-I infection
hsa05167  Kaposi's sarcoma-associated herpesvirus infection
hsa05168  Herpes simplex infection
hsa05169  Epstein-Barr virus infection
hsa05203  Viral carcinogenesis
hsa04144  Endocytosis
hsa04514  Cell adhesion molecules
hsa04650  Natural killer cell mediated cytotoxicity
hsa04145  Phagosome
hsa04612  Antigen processing and presentation
hsa05332  Graft-versus-host disease
hsa05320  Autoimmune thyroid disease
hsa05416  Viral myocarditis
hsa05330  Allograft rejection
hsa04940  Type I diabetes mellitus

Diseases

Associated diseases References
Asthma PMID: 19247692
Behcet's disease PMID: 20622878
Cancer PMID: 18721275
Coronary aneurysm PMID: 18976687
Crohn's disease PMID: 17446213
Diabetes PMID: 18830248
Endometrial cancer PMID: 16530254
Endometriosis PMID: 17509578
Hyperandrogenism PMID: 25403326
Implantation failure PMID: 26742443
Multiple sclerosis PMID: 17462509
Ovarian endometriosis PMID: 19300397
Peritoneal endometriosis PMID: 16311290
Polycystic ovary syndrome (PCOS) PMID: 25403326
Preeclampsia PMID: 17493150
Ovarian endometriosis INFBASE19300397
Adenomyosis INFBASE17953947
Endometriosis INFBASE17509578
Peritoneal endometriosis INFBASE16311290
Primary unexplained infertility PMID: 25764161
Psoriasis PMID: 18797896
Recurrent implantation failure (RIF) PMID: 25367742
Recurrent pregnancy loss (RPL)/ Abortion/ Miscarriage/ Recurrent pregnancy failure/Pregnancy loss/ Recurrent miscarriage/ Spontaneous abortion PMID: 15191524
Reduced fertility PMID: 22114131
Reduced sperm quality PMID: 24735563
Reproductive failure PMID: 18292821
Sarcoidosis PMID: 16933468
Sickle cell anemia PMID: 19775370
Systemic lupus erythematosus PMID: 18380776

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17953947 Endometrio
sis

45 (34 patients
with adenomyos
is, 11 with myo
ma of the uteru
s)
HLA-G
Show abstract
17509578 Endometrio
sis


HLA-G
Show abstract
19300397 Ovarian en
dometriosi
s

140 (98 women w
ho underwent la
parotomies or l
aparoscopies du
e to either ova
rian endometrio
sis or leiomyom
atous uterus, 4
2 women control
s)
HLA-G
Show abstract
16311290 Peritoneal
endometri
osis

68 (archived ti
ssue blocks fro
m peritoneal en
dometriotic les
ions (n = 15) a
nd eutopic endo
metrium (n = 12
) were evaluate
d for extent of
protein immuno
staining, and (
ii) eutopic end
ometrial biopsi
es from women w
ithout (n = 17)
and with (n =
24) endometrios
HLA-G
Show abstract