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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

IL2RA

The information on this page was automatically extracted from online scientific databases.

What is the official name of the IL2RA gene?

The official name of this gene is “interleukin 2 receptor, alpha.”

IL2RA is the gene's official symbol. The IL2RA gene is also known by other names, listed below.

What is the normal function of the IL2RA gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3559):

The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency.[provided by RefSeq, Nov 2009]

From UniProt (http://www.uniprot.org/uniprot/P01589):

Receptor for interleukin-2.

How are changes in the IL2RA gene related to health conditions?

Genetics Home Reference provides information about these conditions associated with changes in the IL2RA gene:
  • Graves disease
  • juvenile idiopathic arthritis
  • multiple sclerosis
  • rheumatoid arthritis
  • type 1 diabetes
UniProt (http://www.uniprot.org/uniprot/P01589) provides the following information about the IL2RA gene's known or predicted involvement in human disease.

Diabetes mellitus, insulin-dependent, 10 (IDDM10): A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3559) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the IL2RA gene.
  • Diabetes mellitus, insulin-dependent, 10
  • Interleukin 2 receptor, alpha, deficiency of
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the IL2RA gene and its association with health conditions.
OMIM
Number
Title

Where is the IL2RA gene located?

Cytogenetic Location: 10p15-p14

Molecular Location on chromosome 10: base pairs 6,010,693 to 6,062,369

The IL2RA gene is located on the short (p) arm of chromosome 10 between positions 15 and 14.

The IL2RA gene is located on the short (p) arm of chromosome 10 between positions 15 and 14.

More precisely, the IL2RA gene is located from base pair 6,010,693 to base pair 6,062,369 on chromosome 10.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about IL2RA?

You and your healthcare professional may find the following resources about IL2RA helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the IL2RA gene or gene products?

  • CD25
  • IDDM10
  • IL2R
  • p55
  • TCGFR

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding IL2RA?

deficiency ; diabetes ; diabetes mellitus ; extracellular ; gene ; glucose ; homeostasis ; hyperglycemia ; insulin ; mutation ; polydipsia ; polyphagia ; polyuria ; protein ; receptor ; soluble ; susceptibility

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: November 24, 2014