| Symbol | JAK3 |
| Full Name | Janus kinase 3 |
| Chromosome | 19p13.11 |
| NCBI Gene ID | 3718 |
| OMIM | 600043 |
| Ensembl ID | ENSG00000105639 |
| UniProt ID | P52333 |
| Associated Diseases | SCID, Autoimmune diseases, Cancer |
Janus kinase 3 (JAK3) is primarily expressed in lymphoid cells and is essential for IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21 receptor signaling. It is predominantly involved in immune cell development and function. JAK3 deficiency causes severe combined immunodeficiency (SCID). In the nervous system, JAK3 is expressed in microglia and astrocytes, where it contributes to neuroinflammatory responses. JAK3 is considered a therapeutic target for autoimmune diseases and has potential implications in neuroinflammation.
Primarily expressed in lymphoid tissues (thymus, spleen, lymph nodes). Low expression in other tissues including brain. Expressed in microglia and some astrocytes.
The JAK3 gene is associated with the following neurodegenerative and neurological conditions:
SCID, Autoimmune diseases, Cancer
This section provides background information on the gene/protein and its role in the nervous system.
This overview section needs to be expanded with relevant scientific information from peer-reviewed sources.