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Aliases for EAF2 Gene

Aliases for EAF2 Gene

  • ELL Associated Factor 2 2 3 5
  • Testosterone-Regulated Apoptosis Inducer And Tumor Suppressor Protein 3 4
  • TRAITS 3 4
  • ELL-Associated Factor 2 3
  • BM040 3
  • U19 3

External Ids for EAF2 Gene

Previous GeneCards Identifiers for EAF2 Gene

  • GC03P121194
  • GC03P122835
  • GC03P122874
  • GC03P123036
  • GC03P121555
  • GC03P118928

Summaries for EAF2 Gene

GeneCards Summary for EAF2 Gene

EAF2 (ELL Associated Factor 2) is a Protein Coding gene. Diseases associated with EAF2 include Eaf and Childhood Leukemia. Among its related pathways are Gene Expression and Formation of HIV elongation complex in the absence of HIV Tat. Gene Ontology (GO) annotations related to this gene include RNA polymerase II regulatory region sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is EAF1.

UniProtKB/Swiss-Prot for EAF2 Gene

  • Acts as a transcriptional transactivator of TCEA1 elongation activity (By similarity). Acts as a transcriptional transactivator of ELL and ELL2 elongation activities. Potent inducer of apoptosis in prostatic and non-prostatic cell lines. Inhibits prostate tumor growth in vivo.

Gene Wiki entry for EAF2 Gene

Additional gene information for EAF2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EAF2 Gene

Genomics for EAF2 Gene

GeneHancer (GH) Regulatory Elements for EAF2 Gene

Promoters and enhancers for EAF2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I121833 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.3 284 3.2 HDGF PKNOX1 ATF1 SMAD1 ARID4B SIN3A DMAP1 ZNF48 YY1 TCF12 IQCB1 EAF2 GOLGB1 HCLS1 SLC15A2 GC03M121324
GH03I121994 Enhancer 1.2 FANTOM5 Ensembl ENCODE 12.8 +160.0 159973 2.3 CTCF TFAP4 BACH1 MAX SIN3A EBF1 IRF4 RAD21 POLR2A SMC3 IQCB1 SLC15A2 EAF2 CD86 HCLS1 CSTA LOC101927010 ENSG00000202388 GC03M121324 ILDR1
GH03I121997 Enhancer 1.3 FANTOM5 Ensembl ENCODE 11.8 +163.3 163318 2.2 ZBTB21 JUN EBF1 BMI1 BATF IRF4 RELA FOSL1 ZFHX2 POLR2A SLC15A2 CD86 EAF2 ENSG00000202388 ILDR1 IQCB1 CSTA HCLS1 LOC101927010 GC03M121324
GH03I121893 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 10.3 +59.4 59416 1.6 NFIL3 HLF CEBPA CEBPB CEBPG HNF4A SLC15A2 IQCB1 EAF2 GC03P121966 GC03M121324
GH03I121792 Enhancer 0.6 ENCODE dbSUPER 11.3 -41.1 -41102 2.6 ZNF217 IKZF1 JUNB IQCB1 EAF2 HCLS1 GOLGB1 GC03M121324
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EAF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EAF2 gene promoter:

Genomic Locations for EAF2 Gene

Genomic Locations for EAF2 Gene
chr3:121,835,183-121,886,526
(GRCh38/hg38)
Size:
51,344 bases
Orientation:
Plus strand
chr3:121,554,030-121,605,373
(GRCh37/hg19)

Genomic View for EAF2 Gene

Genes around EAF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EAF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EAF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EAF2 Gene

Proteins for EAF2 Gene

  • Protein details for EAF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CJ1-EAF2_HUMAN
    Recommended name:
    ELL-associated factor 2
    Protein Accession:
    Q96CJ1
    Secondary Accessions:
    • Q9NZ82

    Protein attributes for EAF2 Gene

    Size:
    260 amino acids
    Molecular mass:
    28792 Da
    Quaternary structure:
    • Isoform 1 and isoform 2 interact with TCEA1 (By similarity). Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3). Interacts with ELL and ELL2.

    Alternative splice isoforms for EAF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EAF2 Gene

Post-translational modifications for EAF2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for EAF2 Gene

Domains & Families for EAF2 Gene

Gene Families for EAF2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EAF2 Gene

Graphical View of Domain Structure for InterPro Entry

Q96CJ1

UniProtKB/Swiss-Prot:

EAF2_HUMAN :
  • Belongs to the EAF family.
Family:
  • Belongs to the EAF family.
genes like me logo Genes that share domains with EAF2: view

Function for EAF2 Gene

Molecular function for EAF2 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional transactivator of TCEA1 elongation activity (By similarity). Acts as a transcriptional transactivator of ELL and ELL2 elongation activities. Potent inducer of apoptosis in prostatic and non-prostatic cell lines. Inhibits prostate tumor growth in vivo.
UniProtKB/Swiss-Prot Induction:
By androgen.

Phenotypes From GWAS Catalog for EAF2 Gene

Gene Ontology (GO) - Molecular Function for EAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 16114057
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 16114057
GO:0005515 protein binding IPI 17395368
genes like me logo Genes that share ontologies with EAF2: view
genes like me logo Genes that share phenotypes with EAF2: view

Animal Models for EAF2 Gene

MGI Knock Outs for EAF2:

Animal Model Products

CRISPR Products

miRNA for EAF2 Gene

miRTarBase miRNAs that target EAF2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EAF2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EAF2 Gene

Localization for EAF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EAF2 Gene

Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EAF2 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for EAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IEA,TAS --
GO:0008023 transcription elongation factor complex IDA 22195968
GO:0016607 nuclear speck IEA --
GO:0032783 ELL-EAF complex IEA --
genes like me logo Genes that share ontologies with EAF2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EAF2 Gene

Pathways & Interactions for EAF2 Gene

genes like me logo Genes that share pathways with EAF2: view

SIGNOR curated interactions for EAF2 Gene

Activates:

Gene Ontology (GO) - Biological Process for EAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II TAS --
GO:0006368 transcription elongation from RNA polymerase II promoter TAS --
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with EAF2: view

Drugs & Compounds for EAF2 Gene

No Compound Related Data Available

Transcripts for EAF2 Gene

Unigene Clusters for EAF2 Gene

ELL associated factor 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EAF2

Alternative Splicing Database (ASD) splice patterns (SP) for EAF2 Gene

No ASD Table

Relevant External Links for EAF2 Gene

GeneLoc Exon Structure for
EAF2
ECgene alternative splicing isoforms for
EAF2

Expression for EAF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EAF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EAF2 Gene

This gene is overexpressed in Pancreatic juice (65.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EAF2 Gene



Protein tissue co-expression partners for EAF2 Gene

NURSA nuclear receptor signaling pathways regulating expression of EAF2 Gene:

EAF2

SOURCE GeneReport for Unigene cluster for EAF2 Gene:

Hs.477325

mRNA Expression by UniProt/SwissProt for EAF2 Gene:

Q96CJ1-EAF2_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, lung, skeletal muscle, kidney, pancreas, spleen, prostate, testis, small intestine, colon, adrenal, bone marrow, lymph node, spinal gland, stomach, thyroid, trachea, thymus, liver and leukocytes.

Evidence on tissue expression from TISSUES for EAF2 Gene

  • Bone marrow(4.3)
genes like me logo Genes that share expression patterns with EAF2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EAF2 Gene

Orthologs for EAF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EAF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EAF2 33 34
  • 99.62 (n)
cow
(Bos Taurus)
Mammalia EAF2 33 34
  • 89.83 (n)
dog
(Canis familiaris)
Mammalia EAF2 33 34
  • 89.49 (n)
mouse
(Mus musculus)
Mammalia Eaf2 33 16 34
  • 85.33 (n)
rat
(Rattus norvegicus)
Mammalia Eaf2 33
  • 84.68 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 75 (a)
OneToMany
-- 34
  • 66 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia EAF2 34
  • 30 (a)
OneToOne
chicken
(Gallus gallus)
Aves EAF2 33 34
  • 73.84 (n)
lizard
(Anolis carolinensis)
Reptilia EAF2 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eaf2 33
  • 65.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68453 33
zebrafish
(Danio rerio)
Actinopterygii eaf2 33 34
  • 58.73 (n)
wufb76c01 33
fruit fly
(Drosophila melanogaster)
Insecta Eaf 34
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea eaf-1 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
OneToMany
Species where no ortholog for EAF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EAF2 Gene

ENSEMBL:
Gene Tree for EAF2 (if available)
TreeFam:
Gene Tree for EAF2 (if available)

Paralogs for EAF2 Gene

Paralogs for EAF2 Gene

(1) SIMAP similar genes for EAF2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with EAF2: view

Variants for EAF2 Gene

Sequence variations from dbSNP and Humsavar for EAF2 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs114555283 likely-benign, Renal dysplasia and retinal aplasia 121,835,057(+) A/G upstream_transcript_variant
rs145282757 uncertain-significance, Renal dysplasia and retinal aplasia 121,835,054(+) G/A/C upstream_transcript_variant
rs191557781 uncertain-significance, Renal dysplasia and retinal aplasia 121,835,042(+) G/A/T upstream_transcript_variant
rs541891117 uncertain-significance, Renal dysplasia and retinal aplasia 121,835,079(+) G/A upstream_transcript_variant
rs553719849 uncertain-significance, Renal dysplasia and retinal aplasia 121,835,049(+) G/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for EAF2 Gene

Variant ID Type Subtype PubMed ID
dgv8524n54 CNV gain 21841781
esv3305904 CNV mobile element insertion 20981092
esv33139 CNV loss 17666407
esv3361990 CNV insertion 20981092
esv3451038 OTHER inversion 20981092
nsv1141890 OTHER inversion 24896259
nsv516233 CNV gain+loss 19592680
nsv967053 CNV duplication 23825009

Variation tolerance for EAF2 Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.91; 35.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EAF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EAF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EAF2 Gene

Disorders for EAF2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EAF2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
eaf
  • eosinophilic angiocentric fibrosis
childhood leukemia
- elite association - COSMIC cancer census association via MalaCards
Search EAF2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EAF2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EAF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EAF2 Gene

Publications for EAF2 Gene

  1. ELL-associated factor 2 (EAF2), a functional homolog of EAF1 with alternative ELL binding properties. (PMID: 12446457) Simone F … Thirman MJ (Blood 2003) 2 3 4 22 58
  2. Suppression of prostate tumor growth by U19, a novel testosterone-regulated apoptosis inducer. (PMID: 12907652) Xiao W … Wang Z (Cancer research 2003) 2 3 4 22 58
  3. ELL-associated factors 1 and 2 are positive regulators of RNA polymerase II elongation factor ELL. (PMID: 16006523) Kong SE … Conaway RC (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 22 58
  4. The little elongation complex regulates small nuclear RNA transcription. (PMID: 22195968) Smith ER … Shilatifard A (Molecular cell 2011) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for EAF2 Gene

Sources for EAF2 Gene

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