Human Gene ELL2 (uc003klr.4) Description and Page Index
  Description: Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr5:95,220,802-95,297,775 Size: 76,974 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr5:95,224,575-95,297,425 Size: 72,851 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr5:95,220,802-95,297,775)mRNA (may differ from genome)Protein (640 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=RNA polymerase II elongation factor ELL2;
FUNCTION: Elongation factor that can increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA.
SUBUNIT: Interacts with EAF1 and EAF2.
SIMILARITY: Belongs to the ELL/occludin family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ELL2
CDC HuGE Published Literature: ELL2
Positive Disease Associations: Blood Pressure , Echocardiography , Glucose , Insulin , Lipids , Lipoproteins, VLDL , Triglycerides
Related Studies:
  1. Blood Pressure
    Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics. [PubMed 17903302]
    These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
  2. Echocardiography
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
  3. Glucose
    , , . [PubMed 0]
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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 50.34 RPKM in Artery - Tibial
Total median expression: 764.57 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -172.70350-0.493 Picture PostScript Text
3' UTR -990.853773-0.263 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
IPR010844 - Occludin_RNApol2_elong_fac_ELL
IPR019464 - RNA_pol_II_elong_fac_ELL

Pfam Domains:
PF07303 - Occludin homology domain
PF10390 - RNA polymerase II elongation factor ELL

Protein Data Bank (PDB) 3-D Structure
MuPIT help


ModBase Predicted Comparative 3D Structure on O00472
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
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0042795 snRNA transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0008023 transcription elongation factor complex

-  Descriptions from all associated GenBank mRNAs
  BC028412 - Homo sapiens elongation factor, RNA polymerase II, 2, mRNA (cDNA clone MGC:33555 IMAGE:4822236), complete cds.
AK296870 - Homo sapiens cDNA FLJ51233 complete cds, highly similar to RNA polymerase II elongation factor ELL2.
AK297956 - Homo sapiens cDNA FLJ60736 complete cds, highly similar to RNA polymerase II elongation factor ELL2.
DQ891536 - Synthetic construct clone IMAGE:100004166; FLH177823.01X; RZPDo839E05126D elongation factor, RNA polymerase II, 2 (ELL2) gene, encodes complete protein.
DQ894725 - Synthetic construct Homo sapiens clone IMAGE:100009185; FLH177819.01L; RZPDo839E05125D elongation factor, RNA polymerase II, 2 (ELL2) gene, encodes complete protein.
AB527661 - Synthetic construct DNA, clone: pF1KB6148, Homo sapiens ELL2 gene for elongation factor, RNA polymerase II, 2, without stop codon, in Flexi system.
BC151238 - Homo sapiens cDNA clone IMAGE:8860505, **** WARNING: chimeric clone ****.
BX538289 - Homo sapiens mRNA; cDNA DKFZp779C185 (from clone DKFZp779C185).
JD283202 - Sequence 264226 from Patent EP1572962.
JD041017 - Sequence 22041 from Patent EP1572962.
JD038173 - Sequence 19197 from Patent EP1572962.
JD296764 - Sequence 277788 from Patent EP1572962.
JD042949 - Sequence 23973 from Patent EP1572962.
JD250360 - Sequence 231384 from Patent EP1572962.
JD233306 - Sequence 214330 from Patent EP1572962.
JD110145 - Sequence 91169 from Patent EP1572962.
JD244213 - Sequence 225237 from Patent EP1572962.
AK300310 - Homo sapiens cDNA FLJ52633 complete cds, highly similar to RNA polymerase II elongation factor ELL2.
JD206833 - Sequence 187857 from Patent EP1572962.
JD521183 - Sequence 502207 from Patent EP1572962.
JD338848 - Sequence 319872 from Patent EP1572962.
AB209343 - Homo sapiens mRNA for elongation factor, RNA polymerase II, 2 variant protein.
JD039977 - Sequence 21001 from Patent EP1572962.
JD502910 - Sequence 483934 from Patent EP1572962.
JD170391 - Sequence 151415 from Patent EP1572962.
JD062670 - Sequence 43694 from Patent EP1572962.
JD278986 - Sequence 260010 from Patent EP1572962.
JD120925 - Sequence 101949 from Patent EP1572962.
JD196242 - Sequence 177266 from Patent EP1572962.

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

Protein O00472 (Reactome details) participates in the following event(s):

R-HSA-6814885 CBCAP complex binds 7-methylguanosine cap of snRNA
R-HSA-6807505 RNA polymerase II transcribes snRNA genes
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ELL2_HUMAN, NM_012081, NP_036213, O00472
UCSC ID: uc003klr.4
RefSeq Accession: NM_012081
Protein: O00472 (aka ELL2_HUMAN)
CCDS: CCDS4080.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_012081.5
exon count: 12CDS single in 3' UTR: no RNA size: 6063
ORF size: 1923CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3875.00frame shift in genome: no % Coverage: 99.72
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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