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FLASH GENE
Symbol PBX2 contributors: mct/npt - updated : 17-03-2010
HGNC name pre-B-cell leukemia homeobox 2
HGNC id 8633
Location 6p21.3      Physical location : 3.413.529 - 32.157.963
Synonym name
  • major histocompatibility class III region,G17 (see HTFAG@)
  • pre-B-cell leukemia transcription factor 2
  • homeobox 12
    • Synonym symbol(s) HOX12, PBX4, PBX2MHC, G17
    DNA
    TYPE functioning gene
    STRUCTURE 5.45 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    BAT8 6p21.31 HLA-B associated transcript 8 C6orf46 6p21.31 chromosome 6 open reading frame 46 C2 6p21.3 complement component 2 BF 6p21.3 B-factor, properdin RDBP 6p21.33 RD RNA binding protein SKIV2L 6p21.3 superkiller viralicidic activity 2-like (S. cerevisiae) DOM3Z 6p21.3 dom-3 homolog Z (C. elegans) STK19 6p21.3 serine/threonine kinase 19 C4B 6p21.3 complement component 4B CYP21A2 6p21.3 cytochrome P450, family 21, subfamily A, polypeptide 2 TNXB 6p21.3 tenascin XB CREBL1 6p21.3 cAMP responsive element binding protein-like 1 FKBPL 6p21.3 FK506 binding protein like C6orf31 6p21.1 chromosome 6 open reading frame 31 PPT2 6p21.3 palmitoyl-protein thioesterase 2 EGFL8 6p21.31 EGF-like-domain, multiple 8 AGPAT1 6p21.3 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) RNF5 6p21.31 ring finger protein 5 AGER 6p21.3 advanced glycosylation end product-specific receptor PBX2 6p21.3 pre-B-cell leukemia transcription factor 2 C6orf9 6p21.3 chromosome 6 open reading frame 9 NOTCH4 6p21.3 Notch homolog 4 (Drosophila) C6orf10 6p21.3 chromosome 6 open reading frame 10 BTNL2 6p21.3 butyrophilin-like 2 (MHC class II associated)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 3231 - 430 - Monica (1991)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
     thymus    
    Endocrinepancreas    
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text most tissues
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • helix-turn-helix
  • DNA binding domain with an homeo domain
  • TALE (three AA loop extension between helices) subfamily
    • HOMOLOGY
    interspecies homolog to murine Pbx2
    intraspecies homolog to PBX1
    Homologene
    FAMILY
  • TALE/PBX homeobox family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • transcriptional activator which binds to the TLX1 promoter
  • playing an important role in megakaryocytic gene expression
  • govern axial skeletal development by controlling Polycomb and HOX in mesoderm and PAX1/PAX9 in sclerotome (Capellini 2008)
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
  • binding (homeodomain)
  • binding cooperatively with the heterodimer E2A/myogenic transcription factors
    • RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    leads to PBX1 haploinsufficiency and specific malformations that resemble tetralogy of Fallot, overriding aorta with ventricular septal defect, and bicuspid aortic valves (Stankunas 2008)
    tumoral     --over  
    correlated with prognosis of non-small cell lung carcinoma (Qiu 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target target molecule for treatment of non-small cell lung carcinoma (Qiu 2009)
    ANIMAL & CELL MODELS