FLT3 Chromosome 13
Fms related receptor tyrosine kinase 3
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What This Gene Does
This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
"Receptor tyrosine kinases|CD molecules|Immunoglobulin like domain containing"
Locus Type
gene with protein product
Location
13q12.2
Ensembl
ENSG00000122025
Associated Conditions (4)
Multiple myeloma
Acute myeloid leukemia
Acute lymphoid leukemia
Myelodysplastic syndrome progressed to acute myeloid leukemia
Key Variants
RS1208575764
Likely pathogenic
Multiple myeloma, Multiple myeloma
Health Risk
RS121913491
Likely pathogenic
Acute myeloid leukemia, Acute myeloid leukemia
Health Risk
RS2137622655
Likely pathogenic
Acute myeloid leukemia, Acute myeloid leukemia
Health Risk
RS121909646
Pathogenic
Acute myeloid leukemia, Acute lymphoid leukemia, Acute myeloid leukemia
Health Risk
RS121913486
Pathogenic
Acute myeloid leukemia, Acute myeloid leukemia
Health Risk
RS121913487
Pathogenic
Acute myeloid leukemia, Acute myeloid leukemia
Health Risk
RS121913488
Pathogenic
Acute myeloid leukemia, Acute myeloid leukemia, Acute lymphoid leukemia
Health Risk
RS398122514
Pathogenic
Acute myeloid leukemia, Acute myeloid leukemia
Health Risk
RS587776834
Pathogenic
Acute lymphoid leukemia, Acute lymphoid leukemia
Health Risk
RS864321619
Pathogenic
Myelodysplastic syndrome progressed to acute myeloid leukemia, Myelodysplastic syndrome progressed to acute myeloid leukemia
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1208575764 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |
| RS121913491 | Health Risk | Likely pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS2137622655 | Health Risk | Likely pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS121909646 | Health Risk | Pathogenic | Acute myeloid leukemia, Acute lymphoid leukemia, Acute myeloid leukemia |
| RS121913486 | Health Risk | Pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS121913487 | Health Risk | Pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS121913488 | Health Risk | Pathogenic | Acute myeloid leukemia, Acute myeloid leukemia, Acute lymphoid leukemia |
| RS398122514 | Health Risk | Pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS587776834 | Health Risk | Pathogenic | Acute lymphoid leukemia, Acute lymphoid leukemia |
| RS864321619 | Health Risk | Pathogenic | Myelodysplastic syndrome progressed to acute myeloid leukemia, Myelodysplastic syndrome progressed to acute myeloid leukemia |