Overview

Location [1]
9p24.1
Pathway
JAK/STAT signaling
Protein [2]
Tyrosine-protein kinase JAK2
Synonyms [1]
JTK10, THCYT3

JAK2 (Janus kinase 2) encodes for tyrosine-protein kinase JAK2, a protein tyrosine kinase involved in cytokine receptor signaling. Mutations in JAK2 have been identified in ALL and other hematologic malignancies.

JAK2 is altered in 2.06% of all cancers with lung adenocarcinoma, myelofibrosis, breast invasive ductal carcinoma, colon adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

JAK2 GENIE Cases - Top Diseases

The most common alterations in JAK2 are JAK2 Mutation (2.48%), JAK2 V617F (0.74%), JAK2 Loss (0.31%), JAK2 Amplification (0.26%), and JAK2 Exon 12 Mutation (0.07%) [3].

JAK2 GENIE Cases - Top Alterations

Significance of JAK2 in Diseases

Acute Lymphoblastic Leukemia +

Myelodysplastic Syndromes +

Acute Myeloid Leukemia +

B-Cell Acute Lymphoblastic Leukemia +

Essential Thrombocythemia +

Polycythemia Vera +

Malignant Solid Tumor +

Chronic Myelomonocytic Leukemia +

Mantle Cell Lymphoma +

Multiple Myeloma +

Peripheral T-Cell Lymphoma +

Secondary Acute Myeloid Leukemia +

Myelofibrosis +

Non-Hodgkin Lymphoma +

B-Cell Lymphoblastic Leukemia/Lymphoma +

Chronic Lymphocytic Leukemia +

Chronic Myeloid Leukemia +

Diffuse Large B-Cell Lymphoma +

Double-Hit Lymphoma +

Lymphoplasmacytic Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Plasma Cell Leukemia +

Primary Cutaneous T Cell Non-Hodgkin Lymphoma +

Primary Myelofibrosis +

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.