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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

Corresponding disease	IMD41 Immunodeficiency 41
Location	10p15.1      Physical location : 6.052.656 - 6.104.333
Synonym name	antigen CD25
	55kDa, Tac-antigen, identified by monoclonal antibodies TAC, 7G7/B6, 2A3
	interleukin-2 receptor subunit alpha
Synonym symbol(s)	CD25, IL2R, TCGFR, p55, IL-2-RA, IDDM10, IMD41

DNA

TYPE	like-sequence
STRUCTURE	51.68 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   enhancer
text structure	differential methylation of the IL2RA promoter in T cells could be an important pathogenic mechanism in multiple sclerosis (MS)
	five enhancers containing the selected SNPs that stimulated activity of the IL2RA promoter in a cell-type specific manner, and tested the effect of specific SNP alleles on activity of the respective enhancers (E1 to E5, labeled according to the distance to the promoter)
	structural properties of the IL2RA promoter are encoded in the DNA sequence and second, that during the initiation process DNA conformation is dynamic and not static

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

tightly linked to IL15RA

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000417 8 splicing 3216 NP_000408 30 272 - 1985 3925551

EXPRESSION

Type	restricted

constitutive of

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 Digestive mouth tongue       Endocrine adrenal gland         Lymphoid/Immune lymph node           thymus       predominantly Reproductive female system uterus

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic monocyte

cell lineage	B lymphoblast lineage
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two short consensus repeats
	two sushi (CCP/SCR) structure (see F13B, SRCP1)

conjugated

GlycoP

mono polymer

homomer , heteromer , monomer , dimer

HOMOLOGY

interspecies	ortholog to rattus Il2ra
	ortholog to murine Il2ra

Homologene

FAMILY

CATEGORY

antigen , signaling cytokine , receptor

SUBCELLULAR LOCALIZATION	plasma membrane
text	type I membrane protein

basic FUNCTION	is expressed in activated T cells and has a significant role in autoimmune disease and tumorigenesis
	IL2RA likely plays a significant role in autoimmune phenomena seen in patients with myelofibrosis

CELLULAR PROCESS	cell cycle
	cell life, proliferation/growth
	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

immunity/defense

text	regulation of cell cycle

PATHWAY

metabolism

signaling

signal transduction

a component	noncovalent dimer of an alpha and a beta chains
	associated with a gamma chain
	homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor

INTERACTION

DNA

RNA

small molecule

protein	FOXP3 function as a positive activator of IL2RA
	key role of class I PIK3CA in IL2RA endocytosis that creates a link with IL2 signalling
	KHDRBS1 has an essential role in the induction and maintenance of IL2RA in T cells
	role for DHPS in promoting T cell proliferation and differentiation via regulation of IL2RA
	dynamin acts as a transition controller for the recruitment of Arp2/3 activators required for IL2RA endocytosis
	IL2RA and TAGAP are novel vitamin D target genes, and are regulated by vitamin D in CD4+ T cells

cell & other

REGULATION

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