JAK3

A gene on chromosome 19p13.1 that encodes a member of the Janus kinase (JAK) family of tyrosine kinases, which are involved in cytokine-receptor-mediated intracellular signal transduction. JAK3 is primarily expressed in immune cells and transduces a signal in response to activation via tyrosine phosphorylation by interleukin receptors.

Molecular pathology
JAK3 mutations are linked to autosomal severe combined immunodeficiency disease (SCID).

Mentioned in ?

Janus kinase

References in periodicals archive ?

There are four known JAK enzymes: JAK1, JAK2, JAK3 and TYK2.

Lilly Announces Top-Line Phase 3 Results for Oral JAK Inhibitor Baricitinib, in Combination with Topical Corticosteroids

Global janus kinase (JAK) inhibitors are drugs that inhibit the abnormal functionality of enzymes in the JAK family such as JAK1, JAK2, JAK3, and TYK2.

Global Janus Kinase (JAK) Inhibitors Market Report 2019-2023 with Market Positioning of Key Vendors

It is a JAK2-selective inhibitor with higher potency for JAK2 over family members JAK1, JAK3 and TYK2.

US FDA approves Celgene's Inrebic

* PF-06651600 (JAK3)--In January 2019, Pfizer announced the initiation of a pivotal Phase 2b/3 clinical trial for its oral JAK3 inhibitor, PF-06651600, for the treatment of patients with moderate to severe alopecia areata, a chronic autoimmune skin disease that causes hair loss on the scalp, face, or body, and currently has no approved therapies.

Pfizer UK

These good cases are associated with JAK3 activation.

OncANP 2019

The analysis of the whole transcriptome data revealed different expression levels of several genes, such as JAK1, JAK2, JAK3, RAF, IL6R, NCAM (CD56), WHSC1, MCL1, BCL2, and IGF1, which showed myeloma pathogenesis as reported previously.

Investigation of Gene Expressions of Myeloma Cells in the Bone Marrow of Multiple Myeloma Patients by Transcriptome Analysis

By contrast Jak1 and Jak3 are helpful in the regulation of lymphopoiesis.1,6

Jak 2 and Stat Proteins; a Mini Review

The phase 2 multicenter, placebo-controlled, double-blind study randomized 142 patients with chronic alopecia of at least 6 months duration and 50% or greater hair loss at baseline to an oral Janus kinase 3 (JAK3) inhibitor known for now as PF-06651600, an oral tyrosine kinase 2 (TYK2)/JAK1 inhibitor known as PF-06700841, or placebo for 24 weeks.

JAK inhibitors mark new era for alopecia areata therapy

In addition, they noted a missense mutation of unknown significance in the Janus kinase 3 (JAK3) gene.

Signet Ring Stromal Cell Tumor: A Legitimate (Benign) Mimic of Krukenberg Tumor

Next-generation sequencing (NGS) was available in seven patients using a custom-designed 49 genes' panel (Ion S5™ System, Thermo Fisher, San Diego, CA, USA), including the entire coding region of ASXL1, ASXL2, BCOR, BCORL1, BIRC3, BRAF, CALR, CBL, CDKN2A, CSF3R, CSMD1, DNMT3A, ETNK1, ETV6, EZH2, FBXW7, FLT3, GATA2, IDH1, IDH2, IL7R, JAK1, JAK2, JAK3, KIT, KRAS, MPL, MYD88, NOTCH1, NRAS, PAX5, PDGFRA, PDGFRB, PHF6, PIGA, PTEN, PTPN11, RUNX1, SETBP1, SETD2, SF3B1, SH2B3, SRSF2, STAG2, TET2, TP53, U2AF1, WT1 , and ZRSR2 , with a median depth of x2000.

Characterizing the Molecular Abnormalities in Rare De Novo Ph+ Acute Myeloid Leukemia

Pfizer said that based on the "totality of the data and the emerging clinical profiles," the investigational JAK3 inhibitor, which was recently granted Breakthrough Therapy designation from FDA for alopecia areata, is advancing to the next phase of development for moderate to severe alopecia areata and will continue to be evaluated for rheumatoid arthritis, Crohn's disease and ulcerative colitis.