Entity Details
Details
PrimaryID | 50615 |
RefseqGene | NG_012222 |
Symbol | IL21R |
Name | interleukin 21 receptor |
Chromosome | 16 |
Location | 16p12.1 |
TaxID | 9606 |
Status | live |
SourceGenome | genomic |
SourceOrigin | natural |
CreationDate | 2000-03-31 |
ModificationDate | 2021-06-11 |
Diseases
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Disease ID | Source | Name | Description |
615207 | OMIM | Immunodeficiency 56 (IMD56) | An autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B-cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
5 interactions