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Gene Gene information from NCBI Gene database.
Entrez ID 3135
Gene name Major histocompatibility complex, class I, G
Gene symbol HLA-G
Synonyms (NCBI Gene)
MHC-G
Chromosome 6
Chromosome location 6p22.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
38 Show/Hide all (38)
miRTarBase ID miRNA Experiments Reference
MIRT000297 hsa-miR-148a-3p Luciferase reporter assay 17847008
MIRT000295 hsa-miR-148b-3p Luciferase reporter assay 17847008
MIRT000293 hsa-miR-152-3p Luciferase reporter assay 17847008
MIRT731747 hsa-miR-152-5p ELISALuciferase reporter assayqRT-PCR 26187665
MIRT731747 hsa-miR-152-5p ELISALuciferase reporter assayqRT-PCR 26187665
Transcription factors Transcription factors information provided by TRRUST V2 database.
8 Show/Hide all (8)
Transcription factor Regulation Reference
CIITA Unknown 11137218
GLI3 Repression 23592762
HIVEP2 Unknown 1409593
HSF1 Unknown 11005379
IRF1 Unknown 11087747
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
66 Show/Hide all (66)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001915 Process Negative regulation of T cell mediated cytotoxicity IDA 11290782
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IBA
GO:0002376 Process Immune system process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142871 4964 ENSG00000204632
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P17693
Protein name HLA class I histocompatibility antigen, alpha chain G (HLA G antigen) (MHC class I antigen G) [Cleaved into: Soluble HLA class I histocompatibility antigen, alpha chain G (sHLA-G)]
Protein function [Isoform 1]: Non-classical major histocompatibility class Ib molecule involved in immune regulatory processes at the maternal-fetal interface (PubMed:19304799, PubMed:23184984, PubMed:29262349). In complex with B2M/beta-2 microglobulin binds a l
PDB 1YDP , 2D31 , 2DYP , 3BZE , 3CDG , 3CII , 3KYN , 3KYO , 6AEE , 6K60
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00129 MHC_I 25 → 203 Class I Histocompatibility antigen, domains alpha 1 and 2 Domain
PF07654 C1-set 211 → 290 Immunoglobulin C1-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in adult eye (PubMed:1570318). Expressed in immune cell subsets including monocytes, myeloid and plasmacytoid dendritic cells and regulatory T cells (Tr1)(at protein level) (PubMed:20448110). Secreted by follicular dendritic
Sequence
Sequence length 338
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Endocytosis ER-Phagosome pathway
Phagosome Endosomal/Vacuolar pathway
Cellular senescence Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Cell adhesion molecules Interferon gamma signaling
Antigen processing and presentation Interferon alpha/beta signaling
Natural killer cell mediated cytotoxicity Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Type I diabetes mellitus  
Human cytomegalovirus infection  
Human papillomavirus infection  
Human T-cell leukemia virus 1 infection  
Kaposi sarcoma-associated herpesvirus infection  
Herpes simplex virus 1 infection  
Epstein-Barr virus infection  
Human immunodeficiency virus 1 infection  
Viral carcinogenesis  
Autoimmune thyroid disease  
Allograft rejection  
Graft-versus-host disease  
Viral myocarditis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (22)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — CTD, Disgenet
CTD, Disgenet
—
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 28540026
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
GWAS catalog
31488892
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (198)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia LHGDN 18059484
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 8795141, 8988550
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 16616377
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30619504
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 29602958
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 27015561, 30009537
★★★★★
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 30616805
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 27527921
★★★★★
★☆☆☆☆
Found in Text Mining only
Alloimmunisation Alloimmunisation BEFREE 30414459
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 29603194
★★★★★
★☆☆☆☆
Found in Text Mining only