Primary familial polycythemia due to EPO receptor mutation: genes and variants
Primary familial polycythemia due to EPO receptor mutation is linked to 3 analyzed proteins (SH2B3, HBA1 and JAK2). 1 DNA variants are known to cause it; 6 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 Primary familial polycythemia due to EPO receptor mutation
SH2B3: SH2B adapter protein 3
It restrains cytokine and growth-factor signaling in hematopoietic cells, including JAK-STAT pathways controlling blood-cell production. Loss-of-function variants can increase blood-cell proliferation and predispose to myeloproliferative neoplasms, while common variants influence autoimmune and hematologic traits.
1 disease-causing and 3 uncertain variants in SH2B3 are linked to Primary familial polycythemia due to EPO receptor mutation.
HBA1: Hemoglobin subunit alpha
It contributes alpha-globin chains that pair with beta-like globins to carry oxygen in red blood cells. Deletion or inactivation reduces alpha-globin production and causes alpha-thalassemia, with severity determined by the number and function of affected alpha-globin genes.
0 disease-causing and 0 uncertain variants in HBA1 are linked to Primary familial polycythemia due to EPO receptor mutation.
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.
0 disease-causing and 3 uncertain variants in JAK2 are linked to Primary familial polycythemia due to EPO receptor mutation.
Known disease-causing variants in Primary familial polycythemia due to EPO receptor mutation
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SH2B3 M1V | 1 | Disease-causing (★) |
Diseases related to Primary familial polycythemia due to EPO receptor mutation
- Thrombocythemia 2, also linked to JAK2 and SH2B3
- Primary myelofibrosis, also linked to JAK2 and SH2B3
- Erythrocytosis, familial, 6, also linked to HBA1
- Acute myeloid leukemia, also linked to JAK2
- Heinz body anemia, also linked to HBA1
- Alpha Thalassemia, also linked to HBA1
- Type 1 diabetes mellitus, also linked to SH2B3
- Essential thrombocythemia, also linked to JAK2
- Hypothyroidism, also linked to SH2B3
- Inflammatory bowel disease, also linked to JAK2
- Hemoglobin H disease, also linked to HBA1
- Myocardial infarction, also linked to SH2B3
Frequently asked questions
Which genes are linked to Primary familial polycythemia due to EPO receptor mutation?
In CATVariant, Primary familial polycythemia due to EPO receptor mutation is linked to 3 analyzed proteins: SH2B3 (SH2B adapter protein 3), HBA1 (Hemoglobin subunit alpha) and JAK2 (Tyrosine-protein kinase JAK2).
How many genetic variants are linked to Primary familial polycythemia due to EPO receptor mutation?
25 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Primary familial polycythemia due to EPO receptor mutation 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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