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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
Location 20p11.22      Physical location : 21.376.006 - 21.378.047
Synonym name NK-2 (Drosophila) homolog D
Synonym symbol(s) NKX2D
DNA
TYPE functioning gene
STRUCTURE 2.16 kb     2 Exon(s)
MAPPING cloned Y linked N status provisional
regionally located linked with NKX2-2 gene
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 1738 - 354 - 2000 10818213
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineneuroendocrinepituitary  moderately Homo sapiens
Nervousbraindiencephalonhypothalamus moderately Homo sapiens
Reproductivemale systemtestis   
cell lineage
cell lines
fluid/secretion
at STAGE
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