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Gene

JAK3

JAK3 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (12), Actionable biomarkers (2), Trial mentions (12), and 7 more evidence types, each linked to its source.

Ensembl ENSG00000105639 UniProt P52333 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 12 Actionable biomarkers Actionable biomarkers 2 Trial mentions Trial mentions 12 Target-disease associations Target-disease associations 801 Vendor sourcing Vendor sourcing 46 Trial-cited literature Trial-cited literature 399 Protein variant mentions Protein variant mentions 29 Human sample screening reference Human sample screening reference 2 Assay-provider ledger Assay-provider ledger 12 Actionable biomarkers Actionable biomarkers 2 Trial mentions Trial mentions 12 Target-disease associations Target-disease associations 801 Vendor sourcing Vendor sourcing 46 Trial-cited literature Trial-cited literature 399 Protein variant mentions Protein variant mentions 29 Human sample screening reference Human sample screening reference 2

Rows recorded per section (log scale)

2 more sections with rows · 2 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 JAK3. 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.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers. Not plotted: 27 at the structurally incomplete recent edge.

The yearly numbers
JAK3 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 1 of 8,738 0.01% not measured
2025 1 of 8,875 0.01% not measured
2024 2 of 8,597 0.02% not measured
2023 0 of 8,275 0.00% 33 of 11,460 0.29%
2022 0 of 8,285 0.00% 42 of 13,598 0.31%
2021 1 of 8,692 0.01% 52 of 15,045 0.35%
2020 0 of 7,640 0.00% 35 of 14,459 0.24%
2019 2 of 7,300 0.03% 28 of 12,159 0.23%
2018 2 of 6,927 0.03% 29 of 11,854 0.24%
2017 1 of 6,558 0.02% 22 of 11,595 0.19%

Assay-provider ledger (12)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
GeneChem Reagent supplier Analytical validation 1 May 01, 2022
HIS/BIOO Scientific Corporation Reagent supplier Analytical validation 1 April 01, 2018
Illumina Unclassified Analytical validation 2 April 01, 2018
Promega Reagent supplier Analytical validation 1 April 01, 2018
QIAGEN Reagent supplier Clinical validationAnalytical validation 3 April 01, 2018

Actionable biomarkers (2)

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

Actionable biomarkers
Alteration Drug Response Disease Source
JAK3 (R657Q,I87T,Q501H) Jak Inhibitors response-associated adult acute megakaryoblastic leukemia Cancer Genome Interpreter
JAK3 (A572V,A573V) Jak Inhibitors response-associated lymphoma Cancer Genome Interpreter

Trial mentions (12)

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

Trial mentions
Trial Source
NCT04370795 Trial eligibility (AACT)
NCT03452774 Trial eligibility (AACT)
NCT02494882 Trial eligibility (AACT)
NCT03519464 Trial eligibility (AACT)
NCT03601819 Trial eligibility (AACT)

Target-disease associations (801)

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

Target-disease associations
Disease Therapeutic area Source
22q11.2 deletion syndrome cardiovascular disease Mouse knockout (IMPC)
AXIN2-related attenuated familial adenomatous polyposis cancer or benign tumor Mouse knockout (IMPC)
Aarskog-Scott syndrome, X-linked genetic, familial or congenital disease Literature (Europe PMC)
Acute hepatic failure phenotype Expression Atlas
Adrenal Gland Neuroblastoma cancer or benign tumor Cancer Gene Census

Vendor sourcing (46)

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 Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple path... View ClinVar record SCV002318887.1
ARUP Laboratories (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission No supporting text recorded; see the citation. View ClinVar record SCV000604052.2
Ambry Genetics (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The c.757A>G (p.T253A) alteration is located in exon 6 (coding exon 5) of the JAK3 gene. This alteration results from a A to G substitution at nucleotide pos... View ClinVar record SCV003533123.2
Center for International Blood and Marrow Transplant Research Trial sponsor Named in trial inclusion criteriaTrial eligibility criteria : 1\. Infants with SCID, either typical or leaky or Omenn syndrome. 1. Typical SCID is defined as either of the following * Absence or very low number ... View trial NCT03619551
Center for International Blood and Marrow Transplant Research Trial sponsor Mentioned in trial textTrial free-text mention JAK3 View trial NCT03619551

Trial-cited literature (399)

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

Trial-cited literature
Publication Journal Year Citations
Responses to Tetanus and Meningococcal Vaccines in Patients with Alopecia Areata Treated with Ritlecitinib. Dermatology and therapy 2026 0
Phase 1B pilot study of itacitinib with alemtuzumab in patients with T-cell prolymphocytic leukemia. Blood neoplasia 2026 0
A Patient Preference-Weighted Quantitative Benefit-Risk Analysis of Ritlecitinib for Alopecia Areata to Inform Medical Decision Making. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2026 0
Efficacy and safety of the oral Janus kinase 3/tyrosine kinase expressed in hepatocellular carcinoma family kinase inhibitor ritlecitinib over 24 months: integrated analysis of the ALLEGRO phase IIb/III and long-term phase III clinical studies in alopecia areata. The British journal of dermatology 2025 34
Patterns of clinical response in patients with alopecia areata treated with ritlecitinib in the ALLEGRO clinical development programme. Journal of the European Academy of Dermatology and Venereology : JEADV 2025 24

Protein variant mentions (29)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A1090S 1 2012 PMID 22980976
p.A527V 1 2015 PMID 25980440
p.A573V 1 2025 PMID 40199606
p.A877V 1 2018 PMID 29217778
p.C565* 1 1995 PMID 7481768

Human sample screening reference (2)

Shown in this order: alphabetical by variant.

Human sample screening reference
Variant GDC project Disease / site Affected cases Profiled cases Observed frequency 95% interval
p.A573V TCGA-DLBC Not Reported; Mature B-Cell Lymphomas; Colon; Stomach; Connective, subcutaneous and other soft tissues; Testis; Brain; Heart, mediastinum, and pleura; Other and unspecified major salivary glands; Breast; Small intestine; Bones, joints and articular cartilage of other and unspecified sites; Retroperitoneum and peritoneum; Thyroid gland; Lymph nodes; Hematopoietic and reticuloendothelial systems 1 50 2.00% 0.35% to 10.50%
p.A573V TCGA-UCEC Not Reported; Epithelial Neoplasms, NOS; Adenomas and Adenocarcinomas; Cystic, Mucinous and Serous Neoplasms; Corpus uteri; Uterus, NOS 1 559 0.18% 0.03% to 1.01%

Literature-extracted relations (47)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Leukemia, Prolymphocytic, T-Cell Disease associate Phase 1B pilot study of itacitinib with alemtuzumab in patients with T-cell prolymphocytic leukemia. 2026
Alopecia Areata Disease associate Rationale and Design of a Novel, Phase 3, External and Synthetic Placebo-Controlled Clinical Trial of Ritlecitinib 50 mg and 100 mg for Alopecia Areata. 2025
Carcinoma, Hepatocellular Disease associate Rationale and Design of a Novel, Phase 3, External and Synthetic Placebo-Controlled Clinical Trial of Ritlecitinib 50 mg and 100 mg for Alopecia Areata. 2025
Lymphoma, T-Cell, Peripheral Disease associate <i>JAK3</i> <sup>A573V</sup> and <i>JAK3</i> <sup>M511I</sup> mutations in peripheral T-cell lymphoma mediating resistance to anti-PD-1 therapy through the STAT3/PD-L1 pathway. 2025
Alopecia Areata Disease associate The Pharmacokinetics, Metabolism, and Clearance Mechanisms of Ritlecitinib, a Janus Kinase 3 and Tyrosine-Protein Kinase Family Inhibitor, in Humans. 2024

Organizations publishing (369)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Government of the United States of America Government 28 1995 to 2023
University of California System Academic 17 2011 to 2024
Oregon Health & Science University Academic 13 2009 to 2022
University of London Academic 12 2008 to 2024
Boston Children's Hospital Hospital 11 2014 to 2022

Where JAK3 appears

  • 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

712 diseases touched.

Not on this page

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

Browse all biomarker evidence pages