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FLASH GENE

Symbol

IRF5

contributors: SGE/npt - updated : 13-07-2018

HGNC name	interferon regulatory factor 5
HGNC id	6120

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in peripheral blood mononuclear cells from SLE patients carrying the risk allele of the CGGGG indel

Susceptibility

to lupus erythematosus to inflammatory bowel diseases to primary biliary cirrhosis to Systemic sclerosis (SSc)

Variant & Polymorphism SNP , repeat , other	IRF5 exon 1B isoforms strongly linked to elevated expression of IRF5 and to risk of lupus erythematosus
	exceptionally strong association signal for a 5 bp insertion
	deletion polymorphism (CGGGG indel) in the promoter region in inflammatory bowel diseases patients
	polymorphisms in the IRF5 gene are associated with a predisposition to autoimmune diseases (Lien 2010)
	rs10488631 at the locus IRF5-TNPO3, strongly assocated to primary biliary cirrhosis
	polymorphisms of IRF5 may play an important role in susceptibility to SSc

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology inflammatory   IRF5 blockade would ameliorate more acute forms of inflammation, including lung injury

ANIMAL & CELL MODELS

	Irf5&
	8722;/&
	8722; mice show higher susceptibility to viral infection and decreased serum levels of type I IFN and the inflammatory cytokines IL-6 and TNF-alpha (Lien 2010)
	mice lacking Irf5 accumulate far fewer neutrophils at the site of inflammation due to the reduced levels of chemokines important for neutrophil recruitment, such as the chemokine (C-X-C motif) ligand 1