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Gene

JAK2

JAK2 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (23), Actionable biomarkers (6), Trial mentions (182), and 6 more evidence types, each linked to its source.

Ensembl ENSG00000096968 UniProt O60674 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 23 Actionable biomarkers Actionable biomarkers 6 Trial mentions Trial mentions 182 Target-disease associations Target-disease associations 1,228 Vendor sourcing Vendor sourcing 581 Trial-cited literature Trial-cited literature 1,187 Protein variant mentions Protein variant mentions 24 Literature-extracted relations Literature-extracted relations 352 Assay-provider ledger Assay-provider ledger 23 Actionable biomarkers Actionable biomarkers 6 Trial mentions Trial mentions 182 Target-disease associations Target-disease associations 1,228 Vendor sourcing Vendor sourcing 581 Trial-cited literature Trial-cited literature 1,187 Protein variant mentions Protein variant mentions 24 Literature-extracted relations Literature-extracted relations 352

Rows recorded per section (log scale)

1 more section with rows · 3 sections measured, none recorded

Cancer actionable (CGI)

Curated as clinically actionable in cancer by the Cancer Genome Interpreter.

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Evidence over time

Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention JAK2. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. Gene named in free-text trial records. A mention, not a validated biomarker. Actionable-biomarker and target-disease-association evidence carries no date in our sources, so it is not on this chart. Publication mentions cover only papers cited by a registered clinical trial, not all of PubMed.

Trial mentions: plotted from 1990 to 2026, the years our matched corpus covers. Not plotted: 2 with no date at all.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers. Not plotted: 35 at the structurally incomplete recent edge.

The yearly numbers
JAK2 per year, by evidence type, the most recent 10 years, newest first; the chart covers 1990 to 2026. The share is of the trials and papers our biomarker dictionary matched that year, not of the literature at large, and a blank year is one our matched corpus does not cover at all.
Year Trial mentions Share of that year Publication mentions Share of that year
2026 19 of 8,738 0.22% not measured
2025 7 of 8,875 0.08% not measured
2024 8 of 8,597 0.09% not measured
2023 8 of 8,275 0.10% 83 of 11,460 0.72%
2022 6 of 8,285 0.07% 107 of 13,598 0.79%
2021 11 of 8,692 0.13% 136 of 15,045 0.90%
2020 13 of 7,640 0.17% 115 of 14,459 0.80%
2019 16 of 7,300 0.22% 102 of 12,159 0.84%
2018 8 of 6,927 0.12% 99 of 11,854 0.84%
2017 13 of 6,558 0.20% 98 of 11,595 0.85%

Assay-provider ledger (23)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
Center for Personalized Diagnostics, Biodesign Institute, Arizona State University Not a company Analytical validation 1 November 01, 2017
Mayo Clinic Not a company Analytical validation 1 November 01, 2017
Merck Research Laboratories Pharma or other Analytical validation 1 November 01, 2017
Illumina Unclassified Clinical validationAnalytical validation 5 May 19, 2017
Memorial Sloan Kettering Cancer Center Not a company Analytical validation 1 May 19, 2017

Actionable biomarkers (6)

Shown in this order: fixed catalogue order, not ranked.

Actionable biomarkers
Alteration Drug Response Disease Source
JAK2-BRAF fusion Ruxolitinib response-associated acute lymphoblastic leukemia Cancer Genome Interpreter
JAK2 (V617F) Ruxolitinib response-associated acute myeloid leukemia Cancer Genome Interpreter
JAK2 (V617F) Jak Inhibitor (alone Or In Combination)s response-associated acute myeloid leukemia Cancer Genome Interpreter
JAK2 amplification Jak Inhibitors response-associated breast adenocarcinoma Cancer Genome Interpreter
JAK2 oncogenic mutation Pd1 Inhibitors responsive cutaneous melanoma Cancer Genome Interpreter

Trial mentions (182)

Shown in this order: fixed catalogue order, not by date.

Trial mentions
Trial Source
NCT02823210 Trial biospecimen (AACT)
NCT07249840 Trial eligibility (AACT)
NCT00940784 Trial eligibility (AACT)
NCT02598297 Trial eligibility (AACT)
NCT02055781 Trial eligibility (AACT)

Target-disease associations (1,228)

Shown in this order: fixed catalogue order, not ranked.

Target-disease associations
Disease Therapeutic area Source
3-methylglutaconic aciduria, type VIIA genetic, familial or congenital disease Mouse knockout (IMPC)
Aarskog-Scott syndrome, X-linked genetic, familial or congenital disease Literature (Europe PMC)
Abdominal obesity nutritional or metabolic disease Literature (Europe PMC)
Abnormal erythrocyte morphology phenotype GWAS credible sets
Abnormal male internal genitalia morphology phenotype GWAS credible sets

Vendor sourcing (581)

Shown in this order: alphabetical by organization.

Vendor sourcing
Organization Role Tier Evidence Citation
3billion, Inc. (South Korea) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Predicted Consequence/Location: Missens... View ClinVar record SCV005905499.1
AOP Orphan (Austria) Trial sponsor Named in trial inclusion criteriaTrial eligibility criteria : 1. Willing and able to give written informed consent prior to any study specific procedures and able to comply with this protocol 2. Male or female subjec... View trial NCT01230775
AOP Orphan (Austria) Trial sponsor Named in trial inclusion criteriaTrial eligibility criteria : 1. Written informed consent obtained prior to any study specific screening activities and able to comply with this protocol. 2. Patients age ≥18 years 3. ... View trial NCT01193699
AOP Orphan (Austria) Trial sponsor Named in trial inclusion criteriaTrial eligibility criteria : 1. Patients who either completed the 12 months AOP2014 treatment arm of the PROUD-PV study, or are currently participating in the CONTINUATION-PV, and at ... View trial NCT02523638
AOP Orphan (Austria) Trial sponsor Named in trial inclusion criteriaTrial eligibility criteria : 1. Patients who completed the 12 months AOP2014 treatment arm of the PROUD-PV study and at the "end-of-treatment visit" (EoT) of the PROUD-PV study who fu... View trial NCT02218047

Trial-cited literature (1,187)

Shown in this order: newest first, then most cited.

Trial-cited literature
Publication Journal Year Citations
Impact of Mutational Landscape and Burden on RBC Transfusion Response in Patients With Lower-Risk Myelodysplastic Syndromes (LR-MDS) in the COMMANDS Study. American journal of hematology 2026 0
Phase 1B pilot study of itacitinib with alemtuzumab in patients with T-cell prolymphocytic leukemia. Blood neoplasia 2026 0
Clonal Hematopoiesis and Cardiovascular Outcomes in Older Women. Journal of the American College of Cardiology 2025 18
Non-invasive vagus nerve stimulation and exercise capacity in healthy volunteers: a randomized trial. European heart journal 2025 13
Ruxolitinib Cream Monotherapy Improved Symptoms and Quality of Life in Adults and Adolescents with Mild-to-Moderate Atopic Dermatitis: Patient-Reported Outcomes from Two Phase III Studies. American journal of clinical dermatology 2025 13

Protein variant mentions (24)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.D1096E 1 2015 PMID 25741868
p.D146N 1 2015 PMID 25741868
p.E1490X 1 2009 PMID 19295549
p.E627A 1 2018 PMID 30304655
p.E846D 1 2015 PMID 25741868

Literature-extracted relations (352)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Lipopolysaccharides Chemical associate Anti-inflammatory Effects of Empagliflozin and Gemigliptin on LPS-Stimulated Macrophage via the IKK/NF-<i>κ</i>B, MKK7/JNK, and JAK2/STAT1 Signalling Pathways. 2021
Oxygen Chemical associate Multi-arm Trial of Inflammatory Signal Inhibitors (MATIS) for hospitalised patients with mild or moderate COVID-19 pneumonia: a structured summary of a study protocol for a randomised controlled trial. 2021
Folic (or folinic) acid Chemical associate Differential responses to folic acid in an established keloid fibroblast cell line are mediated by JAK1/2 and STAT3. 2021
Silybin Chemical negative_correlate Silibinin and SARS-CoV-2: Dual Targeting of Host Cytokine Storm and Virus Replication Machinery for Clinical Management of COVID-19 Patients. 2020
HYDROXYUREA Chemical negative_correlate Cardiovascular events and intensity of treatment in polycythemia vera. 2013

Organizations publishing (732)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Mayo Clinic Hospital 54 2007 to 2025
The University of Texas System Academic 49 2009 to 2026
University of Florence Academic 45 2013 to 2026
Memorial Sloan Kettering Cancer Center Hospital 42 2010 to 2025
Government of the United States of America Government 37 1999 to 2024

Where JAK2 appears

  • animal disease
  • biological_process
  • cancer or benign tumor
  • cardiovascular disease
  • disorder of visual system
  • endocrine system disease
  • gastrointestinal disease
  • genetic, familial or congenital disease
  • hematologic disease
  • immune system disease
  • infectious disease
  • injury, poisoning or other complication
  • integumentary system disease
  • measurement
  • medical procedure
  • musculoskeletal or connective tissue disease
  • nervous system disease
  • nutritional or metabolic disease
  • phenotype
  • reproductive system or breast disease
  • respiratory or thoracic disease
  • urinary system disease

1,013 diseases touched.

Not on this page

Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions, fda biomarker qualification projects, and human sample screening reference.

Browse all biomarker evidence pages