IL7R Chromosome 5
Interleukin 7 receptor
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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Fibronectin type III domain containing|Interleukin receptors"
Locus Type
gene with protein product
Location
5p13.2
Ensembl
ENSG00000168685
Associated Conditions (11)
Immunodeficiency 104
Inborn genetic diseases
Thymoma
Histiocytic medullary reticulosis
IL7R-related disorder
Severe combined immunodeficiency disease
Breast neoplasm
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Multiple sclerosis
susceptibility to
3
Key Variants
RS1057520828
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS111370546
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS137868226
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS143596606
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS148931962
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS193922644
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS199735993
Conflicting classifications of pathogenicity
Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 104
Health Risk
RS200373233
Conflicting classifications of pathogenicity
Immunodeficiency 104, Thymoma, Immunodeficiency 104
Health Risk
RS200751605
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS200937717
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS201093124
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS201671392
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2531575367 | Health Risk | Pathogenic | Immunodeficiency 104, Immunodeficiency 104 |
| RS2531575374 | Health Risk | Pathogenic | Immunodeficiency 104, Immunodeficiency 104 |
| RS2531580353 | Health Risk | Pathogenic | Immunodeficiency 104, Immunodeficiency 104 |
| RS587778405 | Health Risk | Pathogenic | Immunodeficiency 104, Severe combined immunodeficiency disease, Immunodeficiency 104 |
| RS748801798 | Health Risk | Pathogenic | Immunodeficiency 104, Immunodeficiency 104 |
| RS765287425 | Health Risk | Pathogenic | Immunodeficiency 104, Immunodeficiency 104 |
| RS766399441 | Health Risk | Pathogenic | — |
| RS769954937 | Health Risk | Pathogenic | Immunodeficiency 104, Immunodeficiency 104 |
| RS777878144 | Health Risk | Pathogenic | Immunodeficiency 104, Immunodeficiency 104 |
| RS869312857 | Health Risk | Pathogenic | Immunodeficiency 104, Multiple sclerosis, susceptibility to |
| RS886060531 | Health Risk | Pathogenic | Immunodeficiency 104, Immunodeficiency 104 |
| RS1369125529 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency disease, Immunodeficiency 104, Severe combined immunodeficiency disease |
| RS139221577 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 104, Immunodeficiency 104 |
| RS148001159 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 104, Immunodeficiency 104 |
| RS1561423197 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 104, Severe combined immunodeficiency disease, Immunodeficiency 104 |
| RS193922640 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency disease, Immunodeficiency 104, Severe combined immunodeficiency disease |