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FLASH GENE
Symbol HHEX contributors: mct/npt/pgu - updated : 12-05-2010
HGNC name hematopoietically expressed homeobox
HGNC id 4901
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 1772 - 270 - 1994 7911091
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Endocrinethyroid   highly
Lymphoid/Immunelymph node   highly
Respiratoryrespiratory tractlarynx  highly
 respiratory tracttrachea  highly
cell lineage hematopoietic cells
cell lines promyelocytic leukemia cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an Eh-1 (Engrailed homology) motif present within the N-terminal transcription repression domain of PRH mediates binding to Groucho/TLE proteins and enables co-repression
  • an homeobox DNA-binding domain
  • HOMOLOGY
    interspecies homolog to murine Hhex
    intraspecies homolog to HOX11
    Homologene
    FAMILY
  • homeobox transcription factor family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text
  • when GPC3 binds to CD81, CD81-HHEX binding decreases, resulting in nuclear translocation of HHEX and transcriptional repression)
  • basic FUNCTION
  • may be playing a role in hematopoietic differentiation
  • may play a role in differentiation of the epithelial breast cell
  • regulates the nuclear retention of TLE proteins during cellular fractionation
  • regulates transcription by binding to specific DNA sequences and regulates mRNA transport by binding to translation initiation factor EIF4E
  • T lineage oncogene when misexpressed in hematopoietic precursor cells
  • homeodomain factor expressed in multiple endoderm-derived tissues, like the liver, where it is essential for proper development
  • recently implicated in pancreas development and the regulation of insulin secretion
  • plays multiple roles in the control of gene expression during embryonic development and in the adult
  • key regulator of the VEGF signaling pathway, playing an important role in tumorigenesis and leukemogenesis
  • HHEX and CER1 mediate the SOX17 pathway for cardiac mesoderm formation in embryonic stem cells
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between HHEX (hematopoietically expressed homeobox) and SOX13 that modulates Wnt/TCF pathway activity (this interaction may contribute to control Wnt/TCF signaling in the early embryo)
  • binds directly to the promoter regions of the VEGFA, FLT1, and KDR genes and that in each case, represses transcription
  • interacts with the beta subunit of CK2 in cells (CK2 phosphorylates HHEX, and CK2 phosphorylation of the HHEX homeodomain functions as a reversible switch for DNA binding)
  • CD81-HHEX binding (when GPC3 binds to CD81, CD81-HHEX binding decreases, resulting in nuclear translocation of HHEX and transcriptional repression)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in T-cell-derived lymphomas
    Susceptibility to type 2 diabetes
    Variant & Polymorphism other
  • poymorphisms increasing the risk of type 2 diabetes
  • variant (rs5015480) near HHEX associated with the susceptibility of T2DM in females, but not in males (
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS