Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Interleukin-2 receptor subunit alpha

The IL2RA gene encodes a component of an interleukin receptor. Mutations cause autosomal recessive immunodeficiency 41 and are associated with type 1 diabetes.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Immunodeficiency 41
IL2RA
Susceptibility to type 1 diabetes 10
IL2RA

References:

1.

Rickert M et al. (2005) The structure of interleukin-2 complexed with its alpha receptor.

external link
2.

Urdal DL et al. (1984) Purification and chemical characterization of the receptor for interleukin 2 from activated human T lymphocytes and from a human T-cell lymphoma cell line.

external link
3.

Ihle JN et al. (1995) Jaks and Stats in signaling by the cytokine receptor superfamily.

external link
4.

Asano M et al. (1996) Autoimmune disease as a consequence of developmental abnormality of a T cell subpopulation.

external link
5.

Sharfe N et al. (1997) Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor.

external link
6.

None (2001) Certified professionals: CD4(+)CD25(+) suppressor T cells.

external link
7.

Lamaze C et al. (2001) Interleukin 2 receptors and detergent-resistant membrane domains define a clathrin-independent endocytic pathway.

external link
8.

Hori S et al. (2003) Control of regulatory T cell development by the transcription factor Foxp3.

external link
9.

Vella A et al. (2005) Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms.

external link
10.

Leonard WJ et al. (1983) Characterization of the human receptor for T-cell growth factor.

external link
11.

Wang X et al. (2005) Structure of the quaternary complex of interleukin-2 with its alpha, beta, and gammac receptors.

external link
12.

Caudy AA et al. (2007) CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes.

external link
13.

Lowe CE et al. (2007) Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes.

external link
14.

Goudy K et al. (2013) Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity.

external link
15.

Bezrodnik L et al. (2014) Follicular bronchiolitis as phenotype associated with CD25 deficiency.

external link
16.

Li J et al. (2016) EBI2 augments Tfh cell fate by promoting interaction with IL-2-quenching dendritic cells.

external link
17.

Simeonov DR et al. (2017) Discovery of stimulation-responsive immune enhancers with CRISPR activation.

external link
18.

Robb RJ et al. (1988) Structure-function relationships for the interleukin 2 receptor: location of ligand and antibody binding sites on the Tac receptor chain by mutational analysis.

external link
19.

Powrie F et al. (2003) Immunology. Regulating the regulators.

external link
20.

Webb GC et al. (1990) Mapping the gene for murine T-cell growth factor, Il-2, to bands B-C on chromosome 3 and for the alpha chain of the IL2-receptor, Il-2ra, to bands A2-A3 on chromosome 2.

external link
21.

Leonard WJ et al. (1985) Structure of the human interleukin-2 receptor gene.

external link
22.

Ishida N et al. (1985) Molecular cloning and structure of the human interleukin 2 receptor gene.

external link
23.

Greene WC et al. (1986) The human interleukin-2 receptor: normal and abnormal expression in T cells and in leukemias induced by the human T-lymphotropic retroviruses.

external link
24.

Kondo S et al. () Expression of functional human interleukin-2 receptor in mouse T cells by cDNA transfection.

external link
25.

Hatakeyama M et al. (1986) Intracytoplasmic phosphorylation sites of Tac antigen (p55) are not essential for the conformation, function, and regulation of the human interleukin 2 receptor.

external link
26.

Tsudo M et al. (1986) Demonstration of a non-Tac peptide that binds interleukin 2: a potential participant in a multichain interleukin 2 receptor complex.

external link
27.

Pasare C et al. (2003) Toll pathway-dependent blockade of CD4+CD25+ T cell-mediated suppression by dendritic cells.

external link
28.

Ferrari S et al. (1987) The gene encoding human vimentin is located on the short arm of chromosome 10.

external link
29.

Leonard WJ et al. (1985) Localization of the gene encoding the human interleukin-2 receptor on chromosome 10.

external link
30.

Hatakeyama M et al. () Reconstitution of functional receptor for human interleukin-2 in mouse cells.

external link
31.

Leonard WJ et al. () Molecular cloning and expression of cDNAs for the human interleukin-2 receptor.

external link
32.

Nikaido T et al. () Molecular cloning of cDNA encoding human interleukin-2 receptor.

external link
33.

None (1984) The interleukin-2 receptor gene is cloned.

external link
34.

Cosman D et al. () Cloning, sequence and expression of human interleukin-2 receptor.

external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues