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FLASH GENE
Symbol EAF2 contributors: mct/npt - updated : 15-01-2010
HGNC name ELL associated factor 2
HGNC id 23115
Location 3q13.33      Physical location : 121.554.033 - 121.605.372
Synonym name
  • uncharacterized bone marrow protein BM040
  • testosterone-regulated apoptosis inducer and tumor suppressor protein
  • Synonym symbol(s) BM040, TRAITS, U19, FESTA
    DNA
    TYPE functioning gene
    STRUCTURE 51.34 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    MAPPING cloned Y linked N status provisional
    Physical map
    NR1I2 3q12-q13.3 nuclear receptor subfamily 1, group I, member 2 GSK3B 3q13.3 glycogen synthase kinase 3 beta LOC389143 3 LOC389143 GPR156 3q13.33 G protein-coupled receptor 156 LOC116064 3q13.33 hypothetical protein LOC116064 FSTL1 3q13.33 follistatin-like 1 NDUFB4 3q13.33 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa HGD 3q21-q23 homogentisate 1,2-dioxygenase (homogentisate oxidase) MGC23920 GTF2E1 3q21-q24 general transcription factor IIE, polypeptide 1, alpha 56kDa KIAA1006 3q13.33 general transcription factor IIE, polypeptide 1, alpha 56kDa POLQ 3q13.31 polymerase (DNA directed), theta LOC51725 3q21.1 muscle disease-related protein HCLS1 3q13 hematopoietic cell-specific Lyn substrate 1 GOLGB1 3q13 golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1 KIAA0036 3q21.1 golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1 EAF2 3q21.1 ELL associated factor 2 SLC15A2 3p14.3-p14.1 solute carrier family 15 (H+/peptide transporter), member 2 MGC50831 3q21.1 hypothetical protein MGC50831 CD86 3q21 CD86 antigen (CD28 antigen ligand 2, B7-2 antigen) CASR 3q21-q24 calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism) LOC391570 3 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP) CSTA 3q21 cystatin A (stefin A) LOC131076 3q21.1 hypothetical LOC131076 E2IG5 3q21.1 growth and transformation-dependent protein WDR5B 3q21.1 WD repeat domain 5B KPNA1 3q21 karyopherin alpha 1 (importin alpha 5) BAL 3q13-q21 B aggressive lymphoma gene LOC151636 FLJ40597 3q21.1 hypothetical protein FLJ40597 LOC339881 3q21.1 similar to eukaryotic initiation factor 4B KIAA1268 3q21.1 KIAA1268 protein HSPBAP1 3q21 HSPB (heat shock 27kDa) associated protein 1 DIRC2 3q21.1 disrupted in renal carcinoma 2 SEMA5B 3q21.1 sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B PDIR 3q21.1 for protein disulfide isomerase-related SEC22L2 3q21.1 SEC22 vesicle trafficking protein-like 2 (S. cerevisiae) ADCY5 3q13.2-q21 adenylate cyclase 5 PTPLB 3q21.1 protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b MYLK 3q21 myosin, light polypeptide kinase
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1024 28.7 260 - Saso, Kong (2005)
  • also called FESTA-l
  • fused with LGALS4 for transactivating ability
  • - - - - - - Saso
  • also called FESTA-s
  • fused with LGALS4 for transactivating ability
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node    
     spleen   specific
    Urinarykidney   specific
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • transcriptional activation domain
  • a serine-rich region
  • a region essential for apoptosis and growth suppression mapped to AAs 68-113, necessary and sufficient for binding ELL (Hahn 2007)
  • a C-terminal tail that are highly similar to those of the ELL-associated factor EAF1
  • HOMOLOGY
    interspecies ortholog to murine Eaf2
    ortholog to rattus eaf2
    intraspecies homolog to EAF1
    Homologene
    FAMILY
  • EAF family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text localized in nuclear speckles in quiescent cells and diffuse nuclear distribution in dividing cells
    basic FUNCTION
  • transcriptional activator through interaction with the transcription elongation factor TCEA1
  • capacity to immortalize hematopoietic cells when fused with MLL
  • apoptosis inducer (caspase dependent) in prostate cancer cells, growth inhibitory leading to tumor suppression
  • strong positive regulator of ELL elongation activity
  • playing a role in regulation of RNA polymerase II transcription
  • can modulate HIF1alpha and angiogenesis, possibly via direct binding and stabilization of VHL (Xiao 2009)
  • regulates the expression of TSP1 via blocking TP53 repression of the TSP1 promoter (Su 2010)
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with ELL, ELL2
  • interacting with TCEA1
  • interacting with TFPT (TFPT is an important binding partner and a functional regulator of U19/EAF2, EAF1, and/or ELL)(Jiang 2007)
  • cell & other
    REGULATION
    induced by androgen
    repressed by hypermethylation of the CpG island in the promoter region, in tumor cells
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    or homozygous deletion, or hypermethylated promoter in some prostate cancers
    tumoral     --low  
    in advanced human prostate cancer specimens and its overexpression can markedly induce apoptosis in prostate cancer cells (Xiao 2006)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS