Human Gene EAF2 (ENST00000273668.7) from GENCODE V44
  Description: Homo sapiens ELL associated factor 2 (EAF2), transcript variant 1, mRNA. (from RefSeq NM_018456)
Gencode Transcript: ENST00000273668.7
Gencode Gene: ENSG00000145088.9
Transcript (Including UTRs)
   Position: hg38 chr3:121,835,209-121,886,526 Size: 51,318 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg38 chr3:121,835,286-121,886,388 Size: 51,103 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:121,835,209-121,886,526)mRNA (may differ from genome)Protein (260 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EAF2_HUMAN
DESCRIPTION: RecName: Full=ELL-associated factor 2; AltName: Full=Testosterone-regulated apoptosis inducer and tumor suppressor protein;
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.
SUBUNIT: Isoform 1 and isoform 2 interact with TCEA1 (By similarity). Interacts with ELL and ELL2.
INTERACTION: P0C1Z6:TFPT; NbExp=4; IntAct=EBI-1245604, EBI-1245626;
SUBCELLULAR LOCATION: Nucleus speckle. Note=Colocalizes with ELL to nuclear speckles.
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.
INDUCTION: By androgen.
SIMILARITY: Belongs to the EAF family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EAF2
Diseases sorted by gene-association score: eaf (12), childhood leukemia (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.90 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 86.51 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.9077-0.219 Picture PostScript Text
3' UTR -14.30138-0.104 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019194 - Tscrpt_elong_fac_Eaf_N

Pfam Domains:
PF09816 - RNA polymerase II transcription elongation factor

ModBase Predicted Comparative 3D Structure on Q96CJ1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0005515 protein binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0006915 apoptotic process
GO:0030308 negative regulation of cell growth
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060770 negative regulation of epithelial cell proliferation involved in prostate gland development

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0008023 transcription elongation factor complex
GO:0016607 nuclear speck
GO:0032783 ELL-EAF complex


-  Descriptions from all associated GenBank mRNAs
  AF217516 - Homo sapiens uncharacterized bone marrow protein BM040 mRNA, complete cds.
BC014589 - Homo sapiens ELL associated factor 2, mRNA (cDNA clone IMAGE:4824091).
AY049020 - Homo sapiens testosterone regulated apoptosis inducer and tumor suppressor (TRAITS) mRNA, complete cds.
JD213611 - Sequence 194635 from Patent EP1572962.
BC014209 - Homo sapiens ELL associated factor 2, mRNA (cDNA clone MGC:20630 IMAGE:4765823), complete cds.
AF517829 - Homo sapiens EAF2 mRNA, complete cds.
AK301560 - Homo sapiens cDNA FLJ60185 complete cds, highly similar to ELL-associated factor 2.
AB528527 - Synthetic construct DNA, clone: pF1KB6317, Homo sapiens EAF2 gene for ELL associated factor 2, without stop codon, in Flexi system.
CU676923 - Synthetic construct Homo sapiens gateway clone IMAGE:100020652 5' read EAF2 mRNA.
DQ892648 - Synthetic construct clone IMAGE:100005278; FLH188622.01X; RZPDo839E0473D ELL associated factor 2 (EAF2) gene, encodes complete protein.
DQ895887 - Synthetic construct Homo sapiens clone IMAGE:100010347; FLH188618.01L; RZPDo839E0463D ELL associated factor 2 (EAF2) gene, encodes complete protein.
JD047242 - Sequence 28266 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96CJ1 (Reactome details) participates in the following event(s):

R-HSA-112381 Hyperphosphorylation (Ser2) of RNA Pol II CTD by P-TEFb complex
R-HSA-113429 Elongating transcript encounters a lesion in the template
R-HSA-112379 Recruitment of elongation factors to form elongation complex
R-HSA-113411 2-4 nt.backtracking of Pol II complex on the template leading to elongation pausing
R-HSA-113412 Pol II elongation complex moves on the template as transcript elongates
R-HSA-113414 7-14 nt. Backtracking of Pol II complex on the template leading to elongation arrest
R-HSA-112385 Addition of nucleotides leads to transcript elongation
R-HSA-112392 Resumption of elongation after recovery from pausing
R-HSA-113413 TFIIS-mediated recovery of elongation from arrest
R-HSA-112395 Abortive termination of elongation after arrest
R-HSA-112396 Separation of elongating transcript from template
R-HSA-112382 Formation of RNA Pol II elongation complex
R-HSA-674695 RNA Polymerase II Pre-transcription Events
R-HSA-75955 RNA Polymerase II Transcription Elongation
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: BM-040, EAF2_HUMAN, ENST00000273668.1, ENST00000273668.2, ENST00000273668.3, ENST00000273668.4, ENST00000273668.5, ENST00000273668.6, NM_018456, Q96CJ1, Q9NZ82, TRAITS, uc003een.1, uc003een.2, uc003een.3, uc003een.4, uc003een.5
UCSC ID: ENST00000273668.7
RefSeq Accession: NM_018456
Protein: Q96CJ1 (aka EAF2_HUMAN)
CCDS: CCDS3006.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.