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Aliases for ELL2 Gene

Aliases for ELL2 Gene

  • Elongation Factor For RNA Polymerase II 2 2 3 5
  • Metastatic Renal Cell Carcinoma-Associated Transcript 1 2 3
  • Elongation Factor, RNA Polymerase II, 2 2 3
  • ELL-Related RNA Polymerase II, Elongation Factor 3
  • Elongation Factor RNA For Polymerase II 2 3
  • RNA Polymerase II Elongation Factor ELL2 3
  • MRCCAT1 3

External Ids for ELL2 Gene

Previous GeneCards Identifiers for ELL2 Gene

  • GC05M094480
  • GC05M095687
  • GC05M095251
  • GC05M095297
  • GC05M095294
  • GC05M095248
  • GC05M090411
  • GC05M095220

Summaries for ELL2 Gene

GeneCards Summary for ELL2 Gene

ELL2 (Elongation Factor For RNA Polymerase II 2) is a Protein Coding gene. Among its related pathways are Gene Expression and RNA polymerase II transcribes snRNA genes. An important paralog of this gene is ELL.

UniProtKB/Swiss-Prot for ELL2 Gene

  • Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968). Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exon skipping, as well as immunoglobulin heavy chain (IgH) alternative processing. Probably acts by regulating histone modifications accompanying transition from membrane-specific to secretory IgH mRNA expression.

Additional gene information for ELL2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELL2 Gene

Genomics for ELL2 Gene

GeneHancer (GH) Regulatory Elements for ELL2 Gene

Promoters and enhancers for ELL2 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
GH05I095957 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 556.4 +1.2 1232 7.5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 ELL2 LOC101929710 PCSK1 LOC105379091
GH05I095839 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +119.7 119678 5.2 HDGF FOXA2 PKNOX1 ATF1 ARID4B IRF4 ZNF48 YY1 ZNF766 ARID2 LOC102724720 ENSG00000272021 ELL2 ENSG00000250240 RHOBTB3 SPATA9 GLRX LINC01554 LOC105379091 ENSG00000251409
GH05I095856 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 7.4 +100.1 100144 10.9 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 LOC105379091 GLRX LOC100528061 LOC101929710 SPATA9 ELL2 LINC01554
GH05I096077 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -117.7 -117685 4.1 HDAC1 PKNOX1 TCF12 FOS PHF21A CEBPB ZNF398 SP1 ATF4 MTA1 GC05P096080 MIR583 ELL2 GLRX MIR583HG LOC101929710 GC05M096211 RNU6-524P
GH05I096085 Enhancer 1 FANTOM5 ENCODE dbSUPER 10.8 -123.3 -123256 0.2 ZNF639 CEBPB FEZF1 ZSCAN21 PRDM6 ZNF366 BCL6B ZNF629 SP7 ELL2 GLRX MIR583 MIR583HG GC05M096211 LOC101929710 RNU6-524P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ELL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ELL2 gene promoter:

Genomic Locations for ELL2 Gene

Genomic Locations for ELL2 Gene
chr5:95,885,098-95,962,071
(GRCh38/hg38)
Size:
76,974 bases
Orientation:
Minus strand
chr5:95,220,802-95,297,775
(GRCh37/hg19)

Genomic View for ELL2 Gene

Genes around ELL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELL2 Gene

Proteins for ELL2 Gene

  • Protein details for ELL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00472-ELL2_HUMAN
    Recommended name:
    RNA polymerase II elongation factor ELL2
    Protein Accession:
    O00472
    Secondary Accessions:
    • B4DNK7

    Protein attributes for ELL2 Gene

    Size:
    640 amino acids
    Molecular mass:
    72324 Da
    Quaternary structure:
    • 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). Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2. Interacts with AFF4; the interaction is direct and leads to stabilize ELL2 and prevent ELL2 ubiquitination. Interacts with EAF1 and EAF2.

    Three dimensional structures from OCA and Proteopedia for ELL2 Gene

    Alternative splice isoforms for ELL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELL2 Gene

Post-translational modifications for ELL2 Gene

  • Ubiquitinated by SIAH1, leading to its degradation by the proteaseome. Interaction with AFF4 stabilizeS ELL2 and prevent ELL2 ubiquitination.

No data available for DME Specific Peptides for ELL2 Gene

Domains & Families for ELL2 Gene

Gene Families for ELL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ELL2 Gene

Graphical View of Domain Structure for InterPro Entry

O00472

UniProtKB/Swiss-Prot:

ELL2_HUMAN :
  • Belongs to the ELL/occludin family.
Family:
  • Belongs to the ELL/occludin family.
genes like me logo Genes that share domains with ELL2: view

Function for ELL2 Gene

Molecular function for ELL2 Gene

UniProtKB/Swiss-Prot Function:
Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968). Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exon skipping, as well as immunoglobulin heavy chain (IgH) alternative processing. Probably acts by regulating histone modifications accompanying transition from membrane-specific to secretory IgH mRNA expression.

Phenotypes From GWAS Catalog for ELL2 Gene

Gene Ontology (GO) - Molecular Function for ELL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21729782
genes like me logo Genes that share ontologies with ELL2: view
genes like me logo Genes that share phenotypes with ELL2: view

Animal Models for ELL2 Gene

MGI Knock Outs for ELL2:
  • Ell2 tm1a(EUCOMM)Wtsi

miRNA for ELL2 Gene

miRTarBase miRNAs that target ELL2

Clone Products

  • Addgene plasmids for ELL2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ELL2 Gene

Localization for ELL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELL2 Gene

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 ELL2 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ELL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0008023 transcription elongation factor complex IDA,IEA 22195968
genes like me logo Genes that share ontologies with ELL2: view

Pathways & Interactions for ELL2 Gene

genes like me logo Genes that share pathways with ELL2: view

Pathways by source for ELL2 Gene

Gene Ontology (GO) - Biological Process for ELL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006368 transcription elongation from RNA polymerase II promoter IEA --
GO:0042795 snRNA transcription by RNA polymerase II TAS --
genes like me logo Genes that share ontologies with ELL2: view

No data available for SIGNOR curated interactions for ELL2 Gene

Drugs & Compounds for ELL2 Gene

No Compound Related Data Available

Transcripts for ELL2 Gene

Unigene Clusters for ELL2 Gene

Elongation factor, RNA polymerase II, 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for ELL2

Alternative Splicing Database (ASD) splice patterns (SP) for ELL2 Gene

No ASD Table

Relevant External Links for ELL2 Gene

GeneLoc Exon Structure for
ELL2
ECgene alternative splicing isoforms for
ELL2

Expression for ELL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ELL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ELL2 Gene

This gene is overexpressed in Breast (30.8), Pancreas (20.8), Plasma (8.7), and Prostate (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ELL2 Gene



Protein tissue co-expression partners for ELL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ELL2 Gene:

ELL2

SOURCE GeneReport for Unigene cluster for ELL2 Gene:

Hs.192221

Evidence on tissue expression from TISSUES for ELL2 Gene

  • Bone marrow(2.3)
  • Liver(2)
genes like me logo Genes that share expression patterns with ELL2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELL2 Gene

Orthologs for ELL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELL2 33 34
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia ELL2 33 34
  • 92.96 (n)
cow
(Bos Taurus)
Mammalia ELL2 33 34
  • 91.22 (n)
mouse
(Mus musculus)
Mammalia Ell2 33 16 34
  • 89.85 (n)
rat
(Rattus norvegicus)
Mammalia Ell2 33
  • 89.06 (n)
oppossum
(Monodelphis domestica)
Mammalia ELL2 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELL2 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELL2 33
  • 73.7 (n)
lizard
(Anolis carolinensis)
Reptilia ELL2 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ell2 33
  • 69.45 (n)
Str.3600 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.5308 33
zebrafish
(Danio rerio)
Actinopterygii ell2 33 34
  • 57.81 (n)
Dr.17099 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5507 33
fruit fly
(Drosophila melanogaster)
Insecta Su(Tpl) 34
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1855 34
  • 22 (a)
OneToMany
Species where no ortholog for ELL2 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ELL2 Gene

ENSEMBL:
Gene Tree for ELL2 (if available)
TreeFam:
Gene Tree for ELL2 (if available)

Paralogs for ELL2 Gene

Paralogs for ELL2 Gene

(3) SIMAP similar genes for ELL2 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for ELL2 Gene

genes like me logo Genes that share paralogs with ELL2: view

Variants for ELL2 Gene

Sequence variations from dbSNP and Humsavar for ELL2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000092976 -- 95,906,607(-) G/A coding_sequence_variant, synonymous_variant
rs1000110578 -- 95,930,629(-) AAGTAAGT/AAGT intron_variant
rs1000138422 -- 95,920,533(-) A/T intron_variant
rs1000162146 -- 95,885,285(-) C/A/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000247220 -- 95,937,820(-) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ELL2 Gene

Variant ID Type Subtype PubMed ID
nsv968219 CNV duplication 23825009
nsv1015180 CNV gain 25217958
esv2759355 CNV gain 17122850
esv2730485 CNV deletion 23290073
esv1457060 CNV insertion 17803354
dgv950e201 CNV deletion 23290073

Variation tolerance for ELL2 Gene

Residual Variation Intolerance Score: 16.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.96; 89.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELL2 Gene

Human Gene Mutation Database (HGMD)
ELL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELL2 Gene

Disorders for ELL2 Gene

Additional Disease Information for ELL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ELL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ELL2 Gene

Publications for ELL2 Gene

  1. ELL2, a new member of an ELL family of RNA polymerase II elongation factors. (PMID: 9108030) Shilatifard A … Conaway RC (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 22 58
  2. The ubiquitin ligase Siah1 controls ELL2 stability and formation of super elongation complexes to modulate gene transcription. (PMID: 22483617) Liu M … Zhou Q (Molecular cell 2012) 3 4 58
  3. The little elongation complex regulates small nuclear RNA transcription. (PMID: 22195968) Smith ER … Shilatifard A (Molecular cell 2011) 3 4 58
  4. 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
  5. HIV-1 Tat and host AFF4 recruit two transcription elongation factors into a bifunctional complex for coordinated activation of HIV-1 transcription. (PMID: 20471948) He N … Zhou Q (Molecular cell 2010) 3 4 58

Products for ELL2 Gene

  • Addgene plasmids for ELL2

Sources for ELL2 Gene

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