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FLASH GENE
Symbol NKX3-2 contributors: mct/npt/pgu - updated : 15-07-2013
HGNC name NK3 homeobox 2
HGNC id 951
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • helix-turn-helix DNA binding domain
  • a homeobox DNA-binding domain
    • HOMOLOGY
    interspecies homolog to Drosophila bagpipe
    Homologene
    FAMILY
  • NK-3 homeobox family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in mesodermal and skeletal development
  • playing an essential role in craniofacial development
  • required for sclerotomal differentiation
  • recruits the RELA-IkappaBalpha heteromeric complex into the nucleus by direct protein-protein interactions and activates RELA through proteasome-dependent IkappaBalpha degradation in the nucleus
  • plays an important role in endochondral ossification of both the axial and appendicular skeleton
  • plays an important role in early somitic chondrogenesis and control of chondrocyte maturation during limb development
  • suppresses a key osteogenic transcriptional factor, Runt-related transcription factor 2 (RUNX2), to maintain the chondrogenic phenotype in mesenchymal lineages
  • may play an important role in hypoxia-dependent maintenance of chondrocyte phenotype by suppressing RUNX2
  • crucial for hypoxia-dependent maintenance of chondrocyte identity
  • promotes chondrogenesis directly by SOX9-independent mechanisms and indirectly by previously characterized SOX9-dependent mechanisms
  • required for SOX9 to promote chondrogenic differentiation in satellite cells
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • IHH/WNT5A signalling may play a role in negative regulation of NKX3-2 for appropriate progression of chondrocyte hypertrophy during chondrogenesis
    • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with BARD1 and UBE2D1 (contributing to its ubiquitin ligase activity)
  • ubiquitin chain-dependent, but persistent, interactions between NKX3-2 and IKBKG can give rise to constitutive IKBKB activation in the nucleus
  • interaction with RUNX2 (NKX3.2-dependent suppression of RUNX2 was a crucial factor in hypoxia-dependent maintenance of chondrocyte identity
  • IHH/WNT5A signalling may play a role in negative regulation of NKX3-2 for appropriate progression of chondrocyte hypertrophy during chondrogenesis
  • bound to the COL2A1 enhancer element
  • NKX3-2 and SOX9 repress the activity of the PAX3 promoter and NKX3-2 acts as a transcriptional repressor in this process
    • cell & other
    REGULATION
    activated by MEOX11 (activates its promoter in a dose-dependent manner and this activity is enhanced in the presence of PAX1 and/or PAX9)
    induced by SHH chondrogenic transcription factor induced by Sonic hedgehog (SHH)
    Other initially induced in chondrocyte precursor cells, maintained in early-stage chondrocytes and down-regulated in terminal-stage chondrocytes
    ASSOCIATED DISORDERS
    corresponding disease(s) SMMD
    Susceptibility to oculo-auriculo-vertebral spectrum (OAVS)
    Variant & Polymorphism other cis-acting regulatory variation predisposing to oculo-auriculo-vertebral spectrum (OAVS)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS