Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol JAK3
Synonyms JAK-3 | JAK3_HUMAN | JAKL | L-JAK | LJAK
Gene Description JAK3, Janus kinase 3, is a non-receptor protein tyrosine kinase involved in the interferon-alpha/beta/gamma pathway and is a member of the JAK/STAT signaling pathway (PMID: 15575979). JAK3 gain of function mutations are commonly observed in T-cell leukemias and lymphomas (PMID: 30079384, PMID: 30250904, PMID: 28284718).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
3718 19 19p13.11 NM_000215 Oncogene (PMID: 30606230)

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK3 V722I Advanced Solid Tumor sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib) treatment converted cells expressing JAK3 V722I from factor-independent to factor-dependent growth in cell culture (PMID: 25146434). 25146434
FLT3 exon 14 ins JAK3 V722I hematologic cancer resistant Midostaurin Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing a FLT3-ITD mutation and JAK3 V722I were resistant to treatment with Rydapt (midostaurin) in culture (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK3 V722I hematologic cancer resistant Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing a FLT3-ITD mutation and JAK3 V722I were resistant to treatment with Jakafi (ruxolitinib) in culture (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK3 V722I acute myeloid leukemia predicted - resistant Sorafenib Case Reports/Case Series Actionable In a clinical case study, a patient with acute myeloid leukemia harboring a FLT3-ITD mutation treated with Nexavar (sorafenib) was found to have acquired a JAK3 V722I mutation with a variant allele frequency of 49% upon relapse (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK3 V722I hematologic cancer resistant Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing a FLT3-ITD mutation and JAK3 V722I were resistant to treatment with Xeljanz (tofacitinib) in culture (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK3 V722I hematologic cancer decreased response Pacritinib Preclinical - Cell culture Actionable In a preclinical study, Vonjo (pacritinib) treatment decreased cell proliferation and Akt and Erk phosphorylation, but did not fully inhibit Stat5 phosphorylation in transformed hematologic cells expressing a FLT3-ITD mutation and JAK3 V722I and was less effective compared to treatment with the combination of a FLT3 inhibitor and a JAK inhibitor in culture (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK3 V722I hematologic cancer resistant Gilteritinib Preclinical - Cell culture Actionable In a preclinical study, transformed hematologic cells expressing a FLT3-ITD mutation and JAK3 V722I were resistant to treatment with Xospata (gilteritinib) in culture (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK3 V722I hematologic cancer sensitive Midostaurin + Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Rydapt (midostaurin) and Jakafi (ruxolitinib) inhibited downstream signaling and cell growth in transformed hematologic cells expressing aa FLT3-ITD mutation and JAK3 V722I in culture (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK3 V722I hematologic cancer sensitive Gilteritinib + Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Xospata (gilteritinib) and Jakafi (ruxolitinib) inhibited growth of transformed hematologic cells expressing a FLT3-ITD mutation and JAK3 V722I in culture (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK3 V722I hematologic cancer sensitive Midostaurin + Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Rydapt (midostaurin) and Xeljanz (tofacitinib) inhibited cell growth and downstream signaling of transformed hematologic cells expressing a FLT3-ITD mutation and JAK3 V722I in culture (PMID: 33149267). 33149267
JAK3 A573V hematologic cancer sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib, CP-690,550) decreased cell viability in transformed mouse Ba/F3 cells expressing Jak3 A573V (PMID: 29046866). 29046866
JAK3 A572V mature T-cell and NK-cell lymphoma sensitive Tofacitinib Preclinical Actionable In a preclinical study, Xeljanz (tofacitinib), a pan-JAK inhibitor, reduced cell viability and increased apoptosis in a JAK3 A572V mutant natural killer/T-cell lymphoma cell line (PMID: 22705984). 22705984
JAK3 A572V Advanced Solid Tumor sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed human cells expressing JAK3 A572V in culture demonstrated decreased cell survival, increased G1 arrest, elevated apoptotic activity, and reduced phosphorylation of Stat5a when treated with Xeljanz (tofacitinib) (PMID: 21821710). 21821710
JAK3 A572V acute myeloid leukemia predicted - resistant Ilginatinib Preclinical - Cell culture Actionable In a preclinical study, an acute myeloid leukemia cell line harboring JAK3 A572V was insensitive to treatment with Ilginatinib (NS-018) in culture (PMID: 22829185). 22829185
JAK3 I87T Advanced Solid Tumor sensitive JANEX-1 Preclinical - Cell culture Actionable In a preclinical study, JANEX-1 (WHI-P131) inhibited proliferation of transformed cells expressing JAK3 I87T in culture (PMID: 18397343). 18397343
JAK3 V674A Advanced Solid Tumor sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) inhibited Jak3-Stat signaling and cell proliferation in transformed cells over expressing JAK3 V674A in culture (PMID: 26446793). 26446793
JAK3 V674A Advanced Solid Tumor sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib) inhibited Jak3-Stat signaling and cell proliferation in transformed cells over expressing JAK3 V674A in culture (PMID: 26446793). 26446793
JAK3 V674A Advanced Solid Tumor decreased response NIBR3049 Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing JAK3 V674A demonstrated reduced sensitivity to NIBR3049 in culture (PMID: 26446793). 26446793
JAK3 M511I hematologic cancer sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 M511I were sensitive to treatment with Jakafi (ruxolitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK3 M511I T-cell acute lymphoblastic leukemia sensitive Selumetinib Preclinical - Patient cell culture Actionable In a preclinical study, Koselugo (selumetinib) treatment induced apoptosis and reduced cell viability of patient-derived T-cell acute lymphoblastic leukemia cell lines harboring JAK3 M511I (PMID: 35411095). 35411095
JAK3 M511I hematologic cancer sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib, CP-690,550) decreased cell viability in transformed mouse Ba/F3 cells expressing Jak3 M511I (PMID: 29046866). 29046866
JAK3 M511I T-cell acute lymphoblastic leukemia sensitive Tofacitinib Preclinical - Patient cell culture Actionable In a preclinical study, Xeljanz (tofacitinib) treatment inhibited downstream signaling, induced apoptosis, and reduced cell viability of patient-derived T-cell acute lymphoblastic leukemia cell lines harboring JAK3 M511I (PMID: 35411095). 35411095
JAK3 M511I hematologic cancer sensitive Baricitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 M511I were sensitive to treatment with Baricitinib (LY3009104) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK3 M511I hematologic cancer sensitive ASP015K Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 M511I were sensitive to treatment with ASP015K (peficitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK3 M511I hematologic cancer sensitive Decernotinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 M511I were sensitive to treatment with Decernotinib (VX-509) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK3 M511I T-cell acute lymphoblastic leukemia sensitive Ritlecitinib Preclinical - Patient cell culture Actionable In a preclinical study, Ritlecitinib (PF-06651600) treatment inhibited downstream signaling, induced apoptosis, and reduced cell viability of patient-derived T-cell acute lymphoblastic leukemia cell lines harboring JAK3 M511I (PMID: 35411095). 35411095
JAK3 M511I T-cell acute lymphoblastic leukemia sensitive Dexamethasone + Tofacitinib Preclinical - Pdx & cell culture Actionable In a preclinical study, Xeljanx (tofacitinib) and Adexone (dexamethasone) combination treatment increased apoptosis and synergistically reduced viability of a patient-derived T-cell acute lymphoblastic leukemia cell line harboring JAK3 M511I in culture and resulted in reduced leukemic burden in a patient-derived xenograft (PDX) model compared to either drug alone (PMID: 35411095). 35411095
JAK3 L857Q hematologic cancer sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L857Q were sensitive to treatment with Jakafi (ruxolitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK3 L857Q hematologic cancer sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L857Q were sensitive to treatment with Xeljanz (tofacitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK3 L857Q hematologic cancer sensitive Baricitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L857Q were sensitive to treatment with Baricitinib (LY3009104) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK3 L857Q hematologic cancer sensitive ASP015K Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L857Q were sensitive to treatment with ASP015K (peficitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK3 L857Q hematologic cancer sensitive Decernotinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L857Q were sensitive to treatment with Decernotinib (VX-509) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK3 L857Q hematologic cancer sensitive Upadacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L857Q were sensitive to treatment with Rinvoq (upadacitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK3 L857P Advanced Solid Tumor decreased response Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing JAK3 L857P demonstrated reduced sensitivity to Jakafi (ruxolitinib) in culture (PMID: 26446793). 26446793
JAK3 L857P Advanced Solid Tumor sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib) inhibited Jak3-Stat signaling and cell proliferation in transformed cells over expressing JAK3 L857P in culture (PMID: 26446793). 26446793
JAK3 L857P Advanced Solid Tumor sensitive NIBR3049 Preclinical - Cell culture Actionable In a preclinical study, NIBR3049 inhibited Jak3-Stat signaling and cell proliferation in transformed cells over expressing JAK3 L857P in culture (PMID: 26446793). 26446793
JAK3 Y100A JAK3 L857P Advanced Solid Tumor decreased response Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing both JAK3 L857P and JAK3 Y100A demonstrated reduced sensitivity to Jakafi (ruxolitinib) in culture (PMID: 26446793). 26446793
JAK3 Y100A JAK3 L857P Advanced Solid Tumor sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib) inhibited Jak3-Stat signaling and cell proliferation in transformed cells over expressing both JAK3 L857P and Y100A in culture (PMID: 26446793). 26446793
JAK3 Y100A JAK3 L857P Advanced Solid Tumor sensitive NIBR3049 Preclinical - Cell culture Actionable In a preclinical study, NIBR3049 inhibited Jak3-Stat signaling and cell proliferation in transformed cells over expressing both JAK3 L857P and Y100A in culture (PMID: 26446793). 26446793
FLT3 exon 14 ins JAK3 R953* hematologic cancer sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) inhibited growth of transformed hematologic cells expressing a FLT3-ITD mutation and JAK3 R953* in culture (PMID: 33149267). 33149267
FLT3 exon 14 ins JAK3 R953* acute myeloid leukemia predicted - resistant Quizartinib Case Reports/Case Series Actionable In a clinical case study, a patient with acute myeloid leukemia harboring a FLT3-ITD mutation treated with Vanflyta (quizartinib) was found to have acquired a JAK3 R953* mutation upon relapse (PMID: 33149267). 33149267
JAK3 R172Q Advanced Solid Tumor sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed human cells expressing JAK3 R172Q in culture demonstrated decreased cell survival, reduced phosphorylation of Stat5a, and G1 arrest when treated with Xeljanz (tofacitinib) (PMID: 21821710). 21821710
JAK3 L156P Advanced Solid Tumor sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed human cells expressing JAK3 L156P in culture demonstrated decreased cell survival, increased G1 arrest, and reduced phosphorylation of Stat5a when treated with Xeljanz (tofacitinib) (PMID: 21821710). 21821710
JAK3 E183G Advanced Solid Tumor sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed human cells expressing JAK3 E183G in culture demonstrated decreased cell survival, increased G1 arrest, elevated apoptotic activity, and reduced phosphorylation of Stat5a when treated with Xeljanz (tofacitinib) (PMID: 21821710). 21821710
JAK3 H583Y hematologic cancer sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib) decreased viability of transformed mouse Ba/F3 cells expressing JAK3 H583Y (PMID: 28284718). 28284718
JAK3 G589D hematologic cancer sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib, CP-690,550) decreased cell viability in transformed mouse Ba/F3 cells expressing Jak3 G589D (PMID: 28284718). 28284718
JAK3 mutant childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK3 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK3 mutant B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK3 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK3 L875H hematologic cancer predicted - sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L875H demonstrated some sensitivity to treatment with Jakafi (ruxolitinib) in culture, but were not as sensitive as cells expressing other JAK3 activating mutations (PMID: 31976485). 31976485
JAK3 L875H hematologic cancer predicted - sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L875H demonstrated some sensitivity to treatment with Xeljanz (tofacitinib) in culture, but were not as sensitive as cells expressing other JAK3 activating mutations (PMID: 31976485). 31976485
JAK3 L875H hematologic cancer resistant Baricitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L875H demonstrated resistance to treatment with Baricitinib (LY3009104) in culture (PMID: 31976485). 31976485
JAK3 L875H hematologic cancer predicted - sensitive ASP015K Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L875H demonstrated some sensitivity to treatment with ASP015K (peficitinib) in culture, but were not as sensitive as cells expressing other JAK3 activating mutations (PMID: 31976485). 31976485
JAK3 L875H hematologic cancer predicted - sensitive Decernotinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L875H demonstrated some sensitivity to treatment with Decernotinib (VX-509) in culture, but were not as sensitive as cells expressing other JAK3 activating mutations (PMID: 31976485). 31976485
JAK3 L875H hematologic cancer resistant Upadacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L875H demonstrated resistance to treatment with Rinvoq (upadacitinib) in culture (PMID: 31976485). 31976485
JAK3 T1022I Advanced Solid Tumor sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib) inhibited viability of transformed cells expressing JAK3 T1022I in culture (PMID: 32639993). 32639993
JAK3 rearrange childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK3 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK3 rearrange B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK3 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...