Overview

Location [1]
19p13.11
Pathway
JAK/STAT signaling
Synonyms [1]
LJAK, L-JAK, JAK3_HUMAN, JAKL, JAK-3

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.

Significance of JAK3 in Diseases

Acute Lymphoblastic Leukemia +

B-Cell Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Malignant Solid Tumor +

Mixed Phenotype Acute Leukemia +

Myelodysplastic Syndromes +

B-Cell Lymphoblastic Lymphoma +

Chronic Lymphocytic Leukemia +

Chronic Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Lymphoproliferative Disorder +

Mantle Cell Lymphoma +

Mixed Phenotype Acute Leukemia, B/Myeloid, NOS +

Mixed Phenotype Acute Leukemia, T/Myeloid, NOS +

Peripheral T-Cell Lymphoma +

Primary Cutaneous T-Cell Non-Hodgkin Lymphoma +

Secondary Acute Myeloid Leukemia +

Splenic Marginal Zone Lymphoma +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic 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 8. 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.