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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
    TYPE functioning gene
    STRUCTURE 3.01 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC388790 20 LOC388790 RPL12L3 20p11.22 ribosomal protein L12-like 3 RIN2 20p11.22 Ras and Rab interactor 2 NAT5 20p11.22 N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae) CRNKL1 20q12 Crn, crooked neck-like 1 (Drosophila) C20orf26 20p11.23 chromosome 20 open reading frame 26 RPL17P1 20p11.2 ribosomal protein L17 pseudogene 1 INSM1 20p11.21 insulinoma-associated 1 KIAA1272 20p11.22 KIAA1272 protein MRPS11P1 20p11.22 KIAA1272 protein LOC388791 20 LOC388791 C20orf19 20pter-q11.23 chromosome 20 open reading frame 19 RPS15AP1 20p11.22 ribosomal protein S15a pseudogene 1 XRN2 20p11.2-p11.1 5'-3' exoribonuclease 2 LOC391233 20 similar to Homeobox protein Nkx-2.4 (Homeobox protein NKX2.4) (Homeobox protein NK-2 homolog D) GSTM3P 20p11.22 glutathione S-transferase M3 pseudogene NKX2-2 20p11.22 NK2 transcription factor related, locus 2 (Drosophila) LOC388792 20 LOC388792 PAX1 20p11.2 paired box gene 1 SLC25A6P1 20p11 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6, pseudogene 1 RPL41P1 20p11.23-p11.21 ribosomal protein L41, pseudogene 1 ST13P 20p11.22 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene C20orf56 20 chromosome 20 open reading frame 56 FOXA2 20p11 forkhead box A2 KRT18P3 Xq21 keratin 18 pseudogene 3 CYB5P4 20p11.2 cytochrome b-5 pseudogene 4 SSTR4 20p11.2 somatostatin receptor 4 THBD 20p11.2 thrombomodulin C1QR1 20pter-p12-3 complement component 1, q subcomponent, receptor 1 LOC200261 20p11.22 hypothetical protein LOC200261
    regionally located linked with NKX2-4 gene
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2092 - 273 - 1992 1346742
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    cell lineage
    cell lines
    at STAGE
    physiological period embryo, fetal
    Text developing forebrain
  • 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
    interspecies homolog to murine Nkx2-2
    intraspecies paralog to NKX2-8
  • NK-2 homeobox family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    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
    a component
    DNA binding
    small molecule
  • 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
    Other LMX18 is an intermediate factor in NKX2-2 mediated early specification of serotonic (5-HT) neurons
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    causes neonatal diabetes
    Variant & Polymorphism target of diagnosis for patients with gastrointestinal neuroendocrine tumors
    Candidate gene
  • 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