Overview

Location [1]
19p13.11
Pathway
JAK/STAT signaling
Protein [2]
Tyrosine-protein kinase JAK3
Synonyms [1]
LJAK, JAKL, JAK-3, L-JAK, JAK3_HUMAN

Janus kinase 3 (JAK3) is a gene that encodes a protein-tyrosine kinase that functions in receptor-mediated signal transduction and is highly expressed in immune cells. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

JAK3 is altered in 1.58% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and high grade ovarian serous adenocarcinoma having the greatest prevalence of alterations [3].

JAK3 GENIE Cases - Top Diseases

The most common alterations in JAK3 are JAK3 Mutation (2.11%), JAK3 Amplification (0.19%), JAK3 Q39Sfs*108 (0.03%), JAK3 S473F (0.02%), and JAK3 Loss (0.02%) [3].

JAK3 GENIE Cases - Top Alterations

Significance of JAK3 in Diseases

Acute Lymphoblastic Leukemia +

B-Cell Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Primary Cutaneous T Cell Non-Hodgkin Lymphoma +

Peripheral T-Cell Lymphoma +

Malignant Solid Tumor +

B-Cell Lymphoblastic Leukemia/Lymphoma +

Chronic Lymphocytic Leukemia +

Chronic Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Lymphoplasmacytic Lymphoma +

Mantle Cell Lymphoma +

Secondary Acute Myeloid Leukemia +

Splenic Marginal Zone Lymphoma +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Therapy-Related Acute Myeloid Leukemia +

Waldenstrom Macroglobulinemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.