Location [1]
JAK/STAT signaling
Protein [2]
Tyrosine-protein kinase JAK2
Synonyms [1]

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 2.65% of all cancers with lung adenocarcinoma, myeloproliferative neoplasm, breast invasive ductal carcinoma, polycythemia vera, and colon adenocarcinoma having the greatest prevalence of alterations [3].

JAK2 GENIE Cases - Top Diseases

The most common alterations in JAK2 are JAK2 Mutation (2.05%), JAK2 Exon 14 Mutation (0.94%), JAK2 V617F (1.11%), JAK2 Loss (0.30%), and JAK2 Amplification (0.29%) [3].

JAK2 GENIE Cases - Top Alterations

Significance of JAK2 in Diseases

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

B-Cell Acute Lymphoblastic Leukemia +

Myelodysplastic Syndromes +

Polycythemia Vera +

Essential Thrombocythemia +

Malignant Solid Tumor +

Primary Myelofibrosis +

Mixed Phenotype Acute Leukemia +

Multiple Myeloma +

Mantle Cell Lymphoma +

Peripheral T-Cell Lymphoma +

Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase +

Myelofibrosis +

Myelofibrosis Transformation In Essential Thrombocythemia +

Myeloid Neoplasm +

Chronic Myelomonocytic Leukemia +

Waldenstrom Macroglobulinemia +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Lymphoplasmacytic Lymphoma +

Diffuse Large B-Cell Lymphoma +

Chronic Myeloid Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Lymphoproliferative Disorder +

Non-Hodgkin Lymphoma +

B-Cell Lymphoblastic Lymphoma +

Chronic Lymphocytic Leukemia +

Double-Hit Lymphoma +

Lymphoblastic Lymphoma +

Mixed Phenotype Acute Leukemia, B/Myeloid, NOS +

Mixed Phenotype Acute Leukemia, T/Myeloid, NOS +

Plasma Cell Leukemia +

Primary Cutaneous T-Cell Non-Hodgkin Lymphoma +

Splenic Marginal Zone Lymphoma +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Lymphoma +


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.