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FLASH GENE
Symbol NKX2-4 contributors: mct - updated : 13-12-2022
HGNC name NK2 transcription factor related, locus 4 (Drosophila)
HGNC id 7837
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral       gain of function
aberrantly activated NKL homeobox genes NKX2-4 in acute myeloid leukemia (AML), deregulating genes involved in megakaryocytic and erythroid differentiation processes
Susceptibility to uveal melanoma (UM)
Variant & Polymorphism other
  • in UM rs452384 is a functional variant that mediates allele-specific binding of the NKX2.4 nuclear factor and the transcriptional activity of the region, including TERT and CLPTM1L
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS