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FLASH GENE

Symbol

IFNAR2

contributors: mct - updated : 08-03-2013

HGNC name	interferon (alpha, beta and omega) receptor 2
HGNC id	5433

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IMD45 Immunodeficiency 45
Location	21q22.1      Physical location : 34.602.230 - 34.636.818
Genatlas name	identified by monoclonal antibody IFNAR beta 1
Synonym symbol(s)	IFN-R, IFN-alpha-REC, IFNABR, IFNARB

DNA

TYPE	functioning gene
STRUCTURE	34.62 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	two membrane bound forms, beta L(1010kDa) subunit and beta S (55kDa) (Domanski)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_207585 9 - 2898 NP_997468 - 515 - 2007 17095088 NM_000874 9 - 1428 NP_000865 - 331 - 2007 17095088 NM_207584 9 - 1382 NP_997467 - 331 - 2007 17095088 NM_001289125 9 - 2966 NP_001276054 - 515 - 2007 17095088 NM_001289128 8 - 2835 NP_001276057 - 239 - 2007 17095088 NM_001289126 8 - 2789 NP_001276055 - 239 - 2007 17095088

EXPRESSION

Type	ubiquitous

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 Lymphoid/Immune spleen       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective adipose     highly Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic monocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

IFNAR2 intracellular domain (IFNaR2-ICD) can mediate gene transcription in a STAT2 dependent manner, and liberation of the IFNAR2-ICD by regulated proteolysis could trigger a novel mechanism for moving the transcription factor STAT2 to the nucleus

HOMOLOGY

Homologene

FAMILY

cytokin receptor family II

CATEGORY

receptor

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endosome
text	shortly after IFN stimulation, a small amount of IFNAR2 were found in the endosomal compartment

basic FUNCTION	subunit of the interferon receptor, can be proteolytically cleaved in response to interferon-alpha and other activators of protein kinase C
	trafficking of the IFN receptor (IFNAR1 and IFNAR2) through endosomes may potentially regulate signaling pathways
	may play an important role in determining IFN response and clinical phenotypes of HBV infection

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binds JAK1 and STAT2
	nuclear transit of the intracellular domain of the interferon receptor subunit IFNAR2 requires STAT2 and IRF9

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IMD45

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in the primary renal cell carcinoma in patients with metastases compared to those without constitutional     --over   in Alzheimer Disease tumoral     --over   associated with lung cancers that behave aggressively

Susceptibility

susceptibility to chronic HBV infection

Variant & Polymorphism SNP	IFNAR2-F8S polymorphisms might be involved in the susceptibility to chronic HBV infection

Candidate gene
Marker	prognostic biomarker for lung cancer
Therapy target

ANIMAL & CELL MODELS