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FLASH GENE
Symbol NKX2-2 contributors: mct/npt/pgu - updated : 14-04-2015
HGNC name NK2 homeobox 2
HGNC id 7835
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one homeobox domain
  • a DNA binding and a repressor domains required for oncogenesis in Ewing's sarcoma cells, while the transcriptional activation domain is completely dispensable
    • HOMOLOGY
    interspecies homolog to murine Nkx2-2
    intraspecies paralog to NKX2-8
    Homologene
    FAMILY
  • NK-2 homeobox family
    • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • involved in specifying diencephalic neuromeric boundaries and control of the genes of axonal guidance
  • transcription factor that contains both transcriptional activation and transcriptional repression domains that can mediates portions of the EWS/FLI transcriptional signature
  • under physiological conditions in a stage- and region-specific manner, NKX2.2 controls the induction of SLIT1 and SULF1 expression in the ventral spinal cord in a PAX6-independent manner
  • homeodomain transcription factor which is necessary for neuroendocrine (NE) differentiation in the central nervous system and pancreas
  • functioning in immature endocrine cells to control neuroendocrine differentiation in normal intestine
  • repressor activities of NKX2.2 on the methylated ARX promoter in beta cells are the primary regulatory events required for maintaining beta-cell identity
  • key role in development of the human pancreas
  • key regulator for the timing of oligodendrocyte differentiation during development
  • functions as a major 'switch' to turn off PDGFRA signaling in oligodendrocyte precursor cells (OPCs) and initiate the intrinsic program for oligodendrocyte differentiation
  • NKX2.2, a homeodomain-containing transcription factor that is important for GHRL cell development in pancreas, activates the promoter activity
    • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS development , nervous system
    text maybe involved in specifying diencephalic neuromeric boundaries
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interacting with NEUROD1 (NKX2.2 and NEUROD1 interact to regulate pancreatic islet cell fates, and this epistatic relationship is cell-type dependen)
  • critical EWS/FLI target (transcriptional repressive function of NKX2.2 is necessary, and sufficient, for the oncogenic phenotype of Ewing's sarcoma)
  • co-expression of NKX2-2 and NKX6-2 transcription factors in myelinating oligodendrocytes suggests their functional interactions in the regulation of myelin sheath formation and/or maintenance
  • NKX2.2 binds to the SIRT2 promoter via histone deacetylase 1 (HDAC1), the binding site for NKX2.2 maps close to the start codon of the SIRT2 gene
  • TM4SF4 is a transcriptional target of NKX2-2 (primary role of NKX2-2 is to inhibit TM4SF4 in endocrine progenitor cells)
  • genetic interactions between NKX2-2 and ARX within the endocrine progenitor cells that ensure the correct specification and regulation of endocrine hormone-producing cells
  • NKX2.2 represses NEUROD1 in pancreatic alpha cells
  • can directly bind to the promoter of platelet-derived growth factor receptor alpha (PDGFRA) and repress its gene expression
    • cell & other
    REGULATION
    Other LMX18 is an intermediate factor in NKX2-2 mediated early specification of serotonic (5-HT) neurons
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    causes neonatal diabetes
    Susceptibility
    Variant & Polymorphism target of diagnosis for patients with gastrointestinal neuroendocrine tumors
    Candidate gene
    Marker
  • is a valuable marker for Ewing sarcoma, with a sensitivity of 93p100 and a specificity of 89p100, and aids in the differential diagnosis of small round cell tumors
    • Therapy target
    ANIMAL & CELL MODELS