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FLASH GENE

Symbol

HLA-G

contributors: mct/npt - updated : 06-12-2019

HGNC name	major histocompatibility complex, class I, G
HGNC id	4964

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	6p21.3      Physical location : 1.095.034 - 29.798.899
Synonym name	HLA class Ib, including a 5' locus control region
	HLA-G histocompatibility antigen, class I, G
	HLA G antigen
	b2 microglobulin
	HLA class I molecule
Synonym symbol(s)	HLA-60, HLA-6.0, HLAG, MHC-G

DNA

TYPE	functioning gene
STRUCTURE	3.36 kb     6 Exon(s)

text structure

6.0kb Hind III fragment

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	two smaller solubles form, lacking exon 3 (G1) or exon 4

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 6 - 1578 isoform 1 38 338 - Ishitani (1992)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine         Reproductive female system placenta       Respiratory lung

cells

System Cell Pubmed Species Stage Rna symbol Respiratory epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	placenta, trophoblast, placental cells at the maternal-fetal interface

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three globular extracellular domains, alpha 1 and alpha 2 forming the peptide binding groove
	a I, C-like alpha 3 domain
	a single transmembrane domain
	a cytoplasmic tail

conjugated

GlycoP

mono polymer

homomer , heteromer , monomer , dimer

HOMOLOGY

Homologene

FAMILY

MHC class I family

CATEGORY

antigen

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	central immune tolerance role during early pregnancy, playing an important immunoregulatory roles, including the inhibition of maternal NK and T cells and the promotion maternal tolerance of the allogeneic fetus
	modulating cytokine production of monocyte-generated dendritic cells during early pregnancy
	having a potential immunomodulatory role during lymphoproliferative disorders (Sebti 2007)
	may play a crucial role for the susceptibility to Kawasaki disease (Kim 2008)
	HLA-G homodimer, but not the monomer, induces secretion of the proinflammatory cytokines IL6 and IL8 and a small amount of TNF from both decidual macrophages and NK cells (Li 2009)
	HLA-G, CD274 and CD276, are secreted from early and term placenta, and have important implications in the mechanisms by which trophoblast immunomodulators modify the maternal immunological environment

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense , reproduction/sex

text	mandatory expression for the development of pregnancy

PATHWAY

metabolism

signaling

a component

heterodimerizing with beta-2 microglobular

INTERACTION

DNA

RNA

small molecule

protein	binding for adequate complexion
	loaded by TAP molecules
	HLA-G ligand KIR2DL4, is mainly expressed on NK cells and CD56+ T cells with no differences between CMV+ and CMV- subjects

cell & other

REGULATION

Other

transactivation regulated by CREBBP and EP300

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in lymphoproliferative disorders (Sebti 2007)

Susceptibility

to Kawasaki disease

Variant & Polymorphism SNP	nonsynonymous SNP (C/A) of the HLA-G gene (rs12722477, Leu134Ile) was significantly associated with Kawasaki disease (Kim 2008)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS