Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol NKX2-2 contributors: mct/npt/pgu - updated : 14-04-2015
HGNC name NK2 homeobox 2
HGNC id 7835
Location 20p11.22      Physical location : 21.491.663 - 21.494.664
Synonym name
  • NK2 transcription factor related, locus 2 (Drosophila)
  • NK-2 (Drosophila) homolog B
  • NK2 transcription factor-like protein B
    • Synonym symbol(s) NKX2B, HK22
    DNA
    TYPE functioning gene
    STRUCTURE 3.01 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    regionally located linked with NKX2-4 gene
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2092 - 273 - 1992 1346742
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text developing forebrain
    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