Gene: LOC105374724

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: IL7R

Alternate names for this Gene: CD127|CDW127|IL-7R-alpha|IL7RA|ILRA

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5p13.2

Description of this Gene: interleukin 7 receptor

Type of Gene: protein-coding

rs200803157 in LOC105374724;IL7R gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive PMID 21664875 2011 Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

PMID 26123418 2015 Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis.