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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
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
one homeobox domain
HOMOLOGY
interspecies homolog to murine Nkx2.4
homolog to Drosophila Nkx2.4
intraspecies paralog to NKX2-1 (TITF1)
Homologene
FAMILY NKX-2 family of homeodomain-containing transcription factors
CATEGORY transcription factor
SUBCELLULAR LOCALIZATION     intracellular
intracellular,nucleus,chromatin/chromosome
basic FUNCTION
  • NKX2-1 and NKX2-4 activity may likely be required to maintain their expression in specific domains of the developing forebrain
  • potentially playing a role in cell type specification and for maintenance of the differentiated phenotype
  • play a critical role in lineage-specific regulation of organ development
    • CELLULAR PROCESS cell life, differentiation
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • mechanistically, H2AZ1 regulates embryonic neurogenesis by targeting NKX2-4 through interaction with SETD2, thereby promoting H3K36me3 modification to activate the transcription of NKX2-4
  • NKX2.4 regulates TERT and CLPTM1L expression
    • cell & other
    REGULATION
    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