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.