Acquired polycythemia vera: genes and variants
Acquired polycythemia vera is linked to 7 analyzed proteins (JAK2, FLT3, IFNAR1, IFNAR2, JAK1, JAK3 and TYK2). 1 DNA variants are known to cause it; 4 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Acquired polycythemia vera
JAK2: Tyrosine-protein kinase JAK2
It transmits signals from erythropoietin, thrombopoietin, growth hormone, and other cytokine receptors into STAT-dependent transcription. The V617F gain-of-function variant is a major driver of polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
1 disease-causing and 4 uncertain variants in JAK2 are linked to Acquired polycythemia vera.
FLT3: Receptor-type tyrosine-protein kinase FLT3
Its signaling supports survival and expansion of early hematopoietic progenitors. Internal tandem duplications and kinase-domain mutations produce constitutive activity in acute myeloid leukemia and are important prognostic markers and therapeutic targets.
0 disease-causing and 0 uncertain variants in FLT3 are linked to Acquired polycythemia vera.
IFNAR1: Interferon alpha/beta receptor 1
Together with IFNAR2, it detects type I interferons and activates JAK-STAT antiviral and immunoregulatory programs. Loss-of-function can impair antiviral defense, while excessive pathway activation contributes to interferon-driven inflammatory disease.
0 disease-causing and 0 uncertain variants in IFNAR1 are linked to Acquired polycythemia vera.
IFNAR2: Interferon alpha/beta receptor 2
It provides the high-affinity ligand-binding component of the type I interferon receptor complex and triggers antiviral JAK-STAT signaling with IFNAR1. Biallelic loss-of-function variants can predispose to severe viral infections, including critical COVID-19 in some individuals.
0 disease-causing and 0 uncertain variants in IFNAR2 are linked to Acquired polycythemia vera.
JAK1: Tyrosine-protein kinase JAK1
It couples many cytokine receptors to STAT transcription factors and is essential for interferon, interleukin, and growth-factor signaling. Loss-of-function can cause immunodeficiency, whereas activating alterations contribute to inflammatory disease and some malignancies.
0 disease-causing and 0 uncertain variants in JAK1 are linked to Acquired polycythemia vera.
JAK3: Tyrosine-protein kinase JAK3
It carries signals from cytokine receptors using the common gamma chain and is essential for T-cell and NK-cell development. Biallelic loss-of-function variants cause severe combined immunodeficiency, while activating somatic variants occur in selected leukemias and lymphomas.
0 disease-causing and 0 uncertain variants in JAK3 are linked to Acquired polycythemia vera.
TYK2: Non-receptor tyrosine-protein kinase TYK2
It transmits signals from type I interferon, IL-12, IL-23, and related cytokine receptors. Severe loss-of-function can cause immunodeficiency, common variants influence autoimmune susceptibility, and partial pharmacologic inhibition is effective in inflammatory disease.
0 disease-causing and 0 uncertain variants in TYK2 are linked to Acquired polycythemia vera.
Known disease-causing variants in Acquired polycythemia vera
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| JAK2 V617F | 617 | Protein kinase 1 | Disease-causing (★★) |
Diseases related to Acquired polycythemia vera
- Essential thrombocythemia, also linked to IFNAR1, IFNAR2, JAK2 and JAK3
- Hypothyroidism, also linked to FLT3, JAK1 and TYK2
- Primary myelofibrosis, also linked to FLT3, JAK1 and JAK2
- Acute myeloid leukemia, also linked to FLT3 and JAK2
- Melanoma, also linked to IFNAR1 and IFNAR2
- Systemic lupus erythematosus, also linked to IFNAR1 and TYK2
- Gastrointestinal stromal tumor, also linked to FLT3
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, also linked to JAK3
- Severe combined immunodeficiency disease, also linked to JAK3
- T-B+ severe combined immunodeficiency due to JAK3 deficiency, also linked to JAK3
- Multiple myeloma, also linked to FLT3
- Thrombocythemia 2, also linked to JAK2
Frequently asked questions
Which genes are linked to Acquired polycythemia vera?
In CATVariant, Acquired polycythemia vera is linked to 7 analyzed proteins: JAK2 (Tyrosine-protein kinase JAK2), FLT3 (Receptor-type tyrosine-protein kinase FLT3), IFNAR1 (Interferon alpha/beta receptor 1), IFNAR2 (Interferon alpha/beta receptor 2), JAK1 (Tyrosine-protein kinase JAK1), JAK3 (Tyrosine-protein kinase JAK3) and 1 more.
How many genetic variants are linked to Acquired polycythemia vera?
7 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Acquired polycythemia vera look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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