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FLASH GENE

Symbol

IRF4

contributors: mct - updated : 17-12-2014

HGNC name	interferon regulatory factor 4
HGNC id	6119

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 tumoral   translocation     deregulated in multiple myeloma with translocation t(6;14)(p25;q32), in B cell non Hodkin lymphoma and diffuse large B cell lymphoma tumoral     --low   in HTLV.1 induced adult T cell leukemia phenotype tumoral     --over   in B-cell chronic lymphocytic leukemia with unfavorable prognostic tumoral     --low   promoter methylation is a putative mechanism of down-regulated IRF4 expression in leukemia tumoral somatic mutation       recurrent heterozygous somatic mutation in the DNA-binding domain of IRF4 in chronic lymphocytic leukemia with a good prognosis constitutional     --over   of IRF4 expression in T cells requires the Tec family tyrosine kinase, ITK, and in turn, IRF4 suppresses the up-regulation of EOMES, following TCR stimulation ( :

Susceptibility

to facial pigmented spots during aging

Variant & Polymorphism other	variants in IRF4, notably rs12203592, are associated with eye color, hair color, skin color, and freckling, and association of the rs12203592*C allele with melanoma on the trunk in case-control sets from Australia, the UK, and Sweden
	genetic variations in IRF4, contribute to the acquired amount of facial pigmented spots during aging, through pathways independent of the basal melanin production

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology inflammatory   attractive target for the therapy of chronic intestinal inflammation (blocking IRF4 might be an interesting option to modulate inflammation in the advanced state of inflammation)

ANIMAL & CELL MODELS