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FLASH GENE

Symbol

EAF2

contributors: mct/npt - updated : 15-01-2010

HGNC name	ELL associated factor 2
HGNC id	23115

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018456 6 - 1024 NP_060926 28.7 260 - Saso, Kong (2005) also called FESTA-l fused with LGALS4 for transactivating ability variant 2 - - - isoform 2 - - - Saso also called FESTA-s fused with LGALS4 for transactivating ability

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune lymph node           spleen       specific Urinary kidney       specific

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune B 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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