InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IL7R

Summary

InnateDB Protein

IDBP-16163.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IL7R

Protein Name

interleukin 7 receptor

Synonyms

CD127; CDW127; IL-7R-alpha; IL7RA; ILRA;

Species

Homo sapiens

Ensembl Protein

ENSP00000306157

InnateDB Gene

IDBG-16161 (IL7R)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

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

Disease Associations

Severe combined immunodeficiency autosomal recessive T- cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+) SCID) [MIM:608971]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.Multiple sclerosis 3 (MS3) [MIM:612595]: 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A polymorphism at position 244 strongly influences susceptibility to multiple sclerosis. Overtransmission of the major 'C' allele coding for Thr-244 is 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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 127 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	127 [view]
Protein-Protein	121 [view]
Protein-DNA	6 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003823	antigen binding
GO:0004917	interleukin-7 receptor activity
GO:0005515	protein binding

Biological Process

GO:0000018	regulation of DNA recombination
GO:0000902	cell morphogenesis
GO:0001915	negative regulation of T cell mediated cytotoxicity
GO:0002377	immunoglobulin production
GO:0006955	immune response
GO:0007165	signal transduction
GO:0007166	cell surface receptor signaling pathway
GO:0008361	regulation of cell size
GO:0010628	positive regulation of gene expression
GO:0016049	cell growth
GO:0030217	T cell differentiation
GO:0033089	positive regulation of T cell differentiation in thymus
GO:0038111	interleukin-7-mediated signaling pathway
GO:0042100	B cell proliferation
GO:0045087	innate immune response (InnateDB)
GO:0048535	lymph node development
GO:0048872	homeostasis of number of cells