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FLASH GENE

Symbol

IFNGR2

contributors: mct - updated : 11-07-2015

HGNC name	interferon gamma receptor 2 (interferon gamma transducer 1)
HGNC id	5440

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IFNGR2D IFN gamma-receptor 2 deficiency
Location	21q22.11      Physical location : 34.775.201 - 34.809.827
Synonym name	interferon gamma transducer 1
	interferon gamma receptor accessory factor 1
	IFN-gamma receptor 2
	interferon-gamma receptor beta chain precursor9
Synonym symbol(s)	IFNT1, EVI160, AF1-IFGR2, AF1, IFGR2, IFNGT1

DNA

TYPE	functioning gene
STRUCTURE	34.63 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005534 7 - 2234 NP_005525 - 337 - 1994 8124717

EXPRESSION

Type

widely

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 Cardiovascular heart       highly Endocrine pancreas       highly Nervous brain       highly Homo sapiens Respiratory lung       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cells

System Cell Pubmed Species Stage Rna symbol Nervous astrocyte Homo sapiens Nervous glia Homo sapiens Nervous oligodendrocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two fibronectin type 3 domains
	C-terminal region (AAs 296-337) contains a novel BAX inhibitory domain, and has antiapoptotic activity as a BAX inhibitor

HOMOLOGY

Homologene

FAMILY

type II cytokine receptor family

CATEGORY

signaling cytokine , receptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,vesicle
text	located in large vesicles in the cytoplasm, with perinuclear localization typical of the secretory pathway

basic FUNCTION	accessory factor, required for signal transduction
	associates with ANXA5 and regulates IFN-gamma signaling
	influence of a mutation in IFNGR2 in human cells on the generation of Th17 cells in memory T cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of the IFNgamma receptor complex along with the IFNgammaR alpha chain (IFNgammaR1)

INTERACTION

DNA

RNA

small molecule

protein	BAX suppressor
	interacting with ANXA5
	JAK2 is a critical factor that stabilizes IFNGR2 surface expression in Th17 cells from active multiple sclerosis (AMS) patients, making them sensitive to IFNG

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IFNGR2D

Susceptibility

to liver fibrosis in patients with chronic hepatitis C infection to tuberculosis (TB)

Variant & Polymorphism SNP	two SNPs in strong linkage disequilibrium (LD) in IFNGR2 were significantly associated with liver fibrosis in patients with chronic hepatitis C infection
	polymorphisms of IFNGR2 may confer resistance to the TB development of newly infected individuals

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS