| Variant ID | 19707 |
|---|---|
| Entrez Gene ID | 50615 |
| Gene | IL21R (GeneCards) |
| Location | hg19 16:27413653-27413653
hg38 16:27402332-27402332 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.27413653 C>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9019 |
| CADD Raw score (version 1.3) | 0.60004 (Deleterious) |
| FATHMM raw prediction score | 0.21815 (Tolerated) |
| Deleterious probability by DeFine | 0.506 (Deleterious) |
| Entrez Gene ID | 50615 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IL21R (GeneCards) |
| Number of variants in IL21R in this database | 2 (view all the variants) |
| Full name | interleukin 21 receptor |
| Band | 16p12.1 |
| Other IDs | Vega: OTTHUMG00000131675 OMIM: 605383 HGNC: HGNC:6006 Ensembl: ENSG00000103522 |
| Other names | NILR, CD360, IMD56 |
| Summary | The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |