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FLASH GENE

Symbol

IL2RA

contributors: mct - updated : 07-09-2017

HGNC name	interleukin 2 receptor, alpha
HGNC id	6008

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

IMD41

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in leukemia stem cells and correlated with adverse outcomes in young patients with acute myeloid leukemia (AML)

Susceptibility

to IDDM (type 1 diabetes) to rheumatoid arthritis (RA) to multiple sclerosis (MS) to primary sclerosing cholangitis (PSC)

Variant & Polymorphism SNP , other	snp increasing the risk of IDDM (type 1 diabetes)
	role of the IL2RA gene on MS susceptibility
	IL2RA-rs2104286 is the only known genetic variant associated with both joint destruction and RA-persistence
	Treg impairment may play a role in the immune dysregulation observed in PSC, and reduced Treg numbers in patients with PSC are associated with polymorphisms in the IL2RA gene
	CpG methylation changes within the IL2RA promoter in type 1 diabetes of childhood onset

Candidate gene
Marker	is an independent prognostic factor in elderly AML patients
	can be a potent marker of disease activity and therapeutic effects in patients with Kawasaki disease
	IL2RA expression is a specific and relatively sensitive marker for the identification of Ph+ B acute lymphoblastic leukemia (B-ALL) in the pediatric population
Therapy target

ANIMAL & CELL MODELS

murine podocytes express the Il2ra, and activation through the Il2ra results in podocyte injury