IL7R

The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]

Interleukin 7 Receptor

Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).

B cell proliferationIEA:Ensembl
Cell morphogenesisIEA:Ensembl
Cell surface receptor signaling pathwayManual Assertion Based On ExperimentTAS:ProtInc
Defense response to Gram-positive bacteriumIEA:Ensembl
Homeostasis of number of cellsIEA:Ensembl
Immune responseManual Assertion Based On ExperimentTAS:ProtInc
Lymph node developmentIEA:Ensembl
Negative regulation of T cell apoptotic processIEA:Ensembl
Negative regulation of T cell mediated cytotoxicityIEA:Ensembl
Positive regulation of cell population proliferationManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of gene expressionIEA:Ensembl
Positive regulation of receptor signaling pathway via STATManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of T cell differentiation in thymusIEA:Ensembl
Regulation of cell sizeIEA:Ensembl
Regulation of DNA recombinationManual Assertion Based On ExperimentTAS:ProtInc
Signal transductionManual Assertion Based On ExperimentTAS:ProtInc
T cell differentiationIEA:Ensembl

Isoform 1&3: Cell membrane
Isoform 4: Secreted

Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+) SCID):
A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.
Multiple sclerosis 3 (MS3):
A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease.

Extracellular: 21-239
Helical: 240-264
Cytoplasmic: 265-459

N-glycosylated IL-7Ralpha binds IL7 300-fold more tightly than the unglycosylated form.