IL7RA

Interleukin-7 receptor subunit alpha ;
IL-7 receptor subunit alpha ;
IL-7R subunit alpha ;
IL-7R-alpha ;
IL-7RA ;
CDw127 ;
CD antigen CD127 ;

disease:A genetic variation in transmembrane domain of IL7R is associated with susceptibility to multiple sclerosis (MS) [MIM:126200]. Overtransmission of the major 'C' allele coding for Thr-244 are detected in offspring affected with multiple sclerosis. In vitro analysis of transcripts from minigenes containing either 'C' allele (Thr-244) or 'T' allele (Ile-244) shows that the 'C' allele results in an approximately two-fold increase in the skipping of exon 6, leading to increased production of a soluble form of IL7R. Thus, the multiple sclerosis associated 'C' risk allele of IL7R would probably decrease membrane-bound expression of IL7R. As this risk allele is common in the general population, some additional triggers are probably required for the development and progression of MS.,disease:Defects in IL7R are a cause of autosomal recessive severe combined immunodeficiency T-cell-negative/B-cell-positive/NK cell-positive (T(-)/B(+)/NK(+) SCID) [MIM:608971]. SCID refers to a genetically and clinically group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, and cytomegalovirus, among many others. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.,domain:The box 1 motif is required for JAK interaction and/or activation.,domain:The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.,function:Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).,online information:IL7R mutation db,sequence caution:Contaminating sequence. Potential poly-A sequence.,similarity:Belongs to the type I cytokine receptor family. Type 4 subfamily.,similarity:Contains 1 fibronectin type-III domain.,subunit:The IL7 receptor is an heterodimer of IL7R and IL2RG. The TSLP receptor is an heterodimer of CRLF2 and IL7R.,

regulation of DNA recombination, cell morphogenesis, cell activation, regulation of leukocyte mediated cytotoxicity,negative regulation of leukocyte mediated cytotoxicity, regulation of T cell mediated cytotoxicity, negative regulation of T cell mediated cytotoxicity, immune effector process, immunoglobulin production, production of molecular mediator of immune response, immune system development, leukocyte differentiation, negative regulation of immune system process, positive regulation of immune system process, regulation of leukocyte activation, positive regulation of leukocyte activation, regulation of immune effector process, negative regulation of immune effector process, regulation of leukocyte mediated immunity, negative regulation of leukocyte mediated immunity, regulation of lymphocyte mediated immunity, negative regulation of lymphocyte mediated immunity, regulation of T cell mediated immunity,negative regulation of T cell mediated immunity, regulation of adaptive immune response, negative regulation of adaptive immune response, regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains, negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains, immune response, cell surface receptor linked signal transduction, cell proliferation, regulation of cell size, cell growth, hemopoiesis,lymphocyte differentiation, T cell differentiation, regulation of cell killing, negative regulation of cell killing, regulation of cellular component size, mononuclear cell proliferation, cellular component morphogenesis, regulation of T cell differentiation in the thymus, positive regulation of T cell differentiation in the thymus, growth, B cell proliferation, T cell activation, B cell activation, homeostatic process, leukocyte activation, regulation of T cell differentiation, positive regulation of T cell differentiation, positive regulation of cell differentiation, regulation of lymphocyte differentiation,positive regulation of lymphocyte differentiation, lymphocyte activation, lymphocyte proliferation, hemopoietic or lymphoid organ development, lymph node development, negative regulation of response to stimulus, homeostasis of number of cells, negative regulation of immune response, regulation of T cell activation, regulation of cell activation,positive regulation of cell activation, positive regulation of T cell activation, regulation of DNA metabolic process,positive regulation of developmental process, regulation of lymphocyte activation, positive regulation of lymphocyte activation, leukocyte proliferation,

[Isoform 1]: Cell membrane; Single-pass type I membrane protein.; [Isoform 3]: Cell membrane; Single-pass type I membrane protein.; [Isoform 4]: Secreted.