IL7R interleukin 7 receptor
Gene ID: 3575, updated on 5-Mar-2024Gene type: protein coding
Also known as: ILRA; CD127; IL7RA; CDW127; IMD104; sIL-7R; lnc-IL7R; IL7Ralpha; IL-7Ralpha; IL-7R-alpha
- See all available tests in GTR for this gene
- Go to complete Gene record for IL7R
- Go to Variation Viewer for IL7R variants
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. [provided by RefSeq, Dec 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. GeneReviews: Not available | |
| Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. GeneReviews: Not available | |
| Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. GeneReviews: Not available | |
| Immunodeficiency 104 | See labs |
| Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. GeneReviews: Not available | |
| Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. GeneReviews: Not available | |
| Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data. GeneReviews: Not available | |
| Risk alleles for multiple sclerosis identified by a genomewide study. GeneReviews: Not available | |
| Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. GeneReviews: Not available |
Genomic context
- Location:
- 5p13.2
- Sequence:
- Chromosome: 5; NC_000005.10 (35856891..35879603)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IL7R variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- IL7R database
- IL7Rbase: Mutation registry for Interleukin-7 receptor alpha deficiency
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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