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Aliases for POLR2E Gene

Aliases for POLR2E Gene

  • RNA Polymerase II Subunit E 2 3 5
  • DNA Directed RNA Polymerase II 23 Kda Polypeptide 2 3
  • DNA-Directed RNA Polymerase II 23 KDa Polypeptide 3 4
  • RNA Polymerases I, II, And III Subunit ABC1 3 4
  • DNA-Directed RNA Polymerase II Subunit E 3 4
  • RPB5 Homolog 3 4
  • XAP4 3 4
  • DNA-Directed RNA Polymerases I, II, And III Subunit RPABC1 3
  • Polymerase (RNA) II (DNA Directed) Polypeptide E (25kD) 2
  • Polymerase (RNA) II (DNA Directed) Polypeptide E, 25kDa 3
  • DNA-Directed RNA Polymerase Subunit RPABC1 3
  • Polymerase (RNA) II Subunit E 3
  • RPABC1 3
  • HRPB25 3
  • HsRPB5 3
  • RPB5 3

External Ids for POLR2E Gene

Previous GeneCards Identifiers for POLR2E Gene

  • GC19M001162
  • GC19M001027
  • GC19M001039
  • GC19M000860

Summaries for POLR2E Gene

Entrez Gene Summary for POLR2E Gene

  • This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

GeneCards Summary for POLR2E Gene

POLR2E (RNA Polymerase II Subunit E) is a Protein Coding gene. Diseases associated with POLR2E include Myasthenic Syndrome, Congenital, 5. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and Formation of HIV elongation complex in the absence of HIV Tat. Gene Ontology (GO) annotations related to this gene include DNA-directed 5-3 RNA polymerase activity and RNA polymerase I activity.

UniProtKB/Swiss-Prot for POLR2E Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2E/RPB5 is part of the lower jaw surrounding the central large cleft and thought to grab the incoming DNA template. Seems to be the major component in this process (By similarity).

Gene Wiki entry for POLR2E Gene

Additional gene information for POLR2E Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLR2E Gene

Genomics for POLR2E Gene

GeneHancer (GH) Regulatory Elements for POLR2E Gene

Promoters and enhancers for POLR2E 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
GH19I001093 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 567 +0.6 565 2.9 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF207 ZNF143 POLR2E GPX4 ARHGAP45 PIR52456
GH19I001086 Enhancer 1.1 Ensembl ENCODE dbSUPER 31.2 +7.7 7660 3.3 CTCF BACH1 MAX EBF1 ZIC2 KLF5 ZNF48 POLR2A SCRT2 NFATC1 PIR52456 POLR2E ABCA7 ARHGAP45 GPX4
GH19I001074 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 17 +18.9 18924 4.5 HDGF PKNOX1 FOXA2 MLX ARNT FEZF1 IRF4 SLC30A9 ZNF766 ZNF207 ARHGAP45 POLR2E ABCA7 PIR52456
GH19I001064 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.3 +28.2 28234 6 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF263 SP3 ARHGAP45 ABCA7 DAZAP1 POLR2E SBNO2 MIER2 MIDN R3HDM4 CIRBP TMEM259
GH19I001097 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.8 -10.7 -10674 17 MLX DMAP1 IRF4 YY1 ZNF143 SP3 NFYC SSRP1 GLIS1 RCOR2 GPX4 GC19P001105 GC19P001106 CIRBP TMEM259 ENSG00000267283 LOC100288123 ENSG00000261526 MED16 TCF3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around POLR2E on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POLR2E gene promoter:

Genomic Locations for POLR2E Gene

Genomic Locations for POLR2E Gene
chr19:1,086,579-1,095,392
(GRCh38/hg38)
Size:
8,814 bases
Orientation:
Minus strand
chr19:1,086,578-1,095,598
(GRCh37/hg19)

Genomic View for POLR2E Gene

Genes around POLR2E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR2E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLR2E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLR2E Gene

Proteins for POLR2E Gene

  • Protein details for POLR2E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19388-RPAB1_HUMAN
    Recommended name:
    DNA-directed RNA polymerases I, II, and III subunit RPABC1
    Protein Accession:
    P19388
    Secondary Accessions:
    • B2R6L4
    • D6W5Y1
    • O43380
    • Q6PIH5
    • Q9BT06

    Protein attributes for POLR2E Gene

    Size:
    210 amino acids
    Molecular mass:
    24551 Da
    Quaternary structure:
    • Component of the RNA polymerase I (Pol I), RNA polymerase II (Pol II) and RNA polymerase III (Pol III) complexes consisting of at least 13, 12 and 17 subunits, respectively (By similarity). In RNA Pol II, this subunit is present in 2-fold molar excess over the other subunits. Interacts with URI1. Interacts with HBV protein X.

    Three dimensional structures from OCA and Proteopedia for POLR2E Gene

neXtProt entry for POLR2E Gene

Post-translational modifications for POLR2E Gene

No data available for DME Specific Peptides for POLR2E Gene

Domains & Families for POLR2E Gene

Gene Families for POLR2E Gene

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

Suggested Antigen Peptide Sequences for POLR2E Gene

Graphical View of Domain Structure for InterPro Entry

P19388

UniProtKB/Swiss-Prot:

RPAB1_HUMAN :
  • Belongs to the archaeal RpoH/eukaryotic RPB5 RNA polymerase subunit family.
Family:
  • Belongs to the archaeal RpoH/eukaryotic RPB5 RNA polymerase subunit family.
genes like me logo Genes that share domains with POLR2E: view

Function for POLR2E Gene

Molecular function for POLR2E Gene

GENATLAS Biochemistry:
polymerase II,RNA (DNA directed) small polypeptide E (25kDa)
UniProtKB/Swiss-Prot Function:
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2E/RPB5 is part of the lower jaw surrounding the central large cleft and thought to grab the incoming DNA template. Seems to be the major component in this process (By similarity).

Phenotypes From GWAS Catalog for POLR2E Gene

Gene Ontology (GO) - Molecular Function for POLR2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001054 contributes_to RNA polymerase I activity IBA --
GO:0001055 contributes_to RNA polymerase II activity IBA --
GO:0001056 contributes_to RNA polymerase III activity IBA --
GO:0003677 DNA binding IEA --
GO:0003899 DNA-directed 5-3 RNA polymerase activity TAS,IEA 7828586
genes like me logo Genes that share ontologies with POLR2E: view
genes like me logo Genes that share phenotypes with POLR2E: view

Animal Model Products

CRISPR Products

miRNA for POLR2E Gene

miRTarBase miRNAs that target POLR2E

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POLR2E Gene

Localization for POLR2E Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR2E 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 POLR2E gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POLR2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 9852112
GO:0005654 nucleoplasm TAS,IDA --
GO:0005665 DNA-directed RNA polymerase II, core complex IDA 9852112
GO:0005666 DNA-directed RNA polymerase III complex IBA --
GO:0005736 DNA-directed RNA polymerase I complex IBA --
genes like me logo Genes that share ontologies with POLR2E: view

Pathways & Interactions for POLR2E Gene

SuperPathways for POLR2E Gene

SuperPathway Contained pathways
1 Formation of HIV elongation complex in the absence of HIV Tat
2 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
3 RNA Polymerase II Transcription Initiation And Promoter Clearance
4 RNA Polymerase III Transcription Initiation
5 mRNA Capping
genes like me logo Genes that share pathways with POLR2E: view

Gene Ontology (GO) - Biological Process for POLR2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006351 transcription, DNA-templated IEA,TAS --
GO:0006361 transcription initiation from RNA polymerase I promoter TAS --
GO:0006362 transcription elongation from RNA polymerase I promoter TAS --
genes like me logo Genes that share ontologies with POLR2E: view

No data available for SIGNOR curated interactions for POLR2E Gene

Drugs & Compounds for POLR2E Gene

(4) Drugs for POLR2E Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine triphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Uridine triphosphate Experimental, Investigational Pharma 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for POLR2E Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with POLR2E: view

Transcripts for POLR2E Gene

Unigene Clusters for POLR2E Gene

Polymerase (RNA) II (DNA directed) polypeptide E, 25kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for POLR2E Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9
SP1: -
SP2: - - - - - - -
SP3:
SP4: - -
SP5: -
SP6: -
SP7: -
SP8:

Relevant External Links for POLR2E Gene

GeneLoc Exon Structure for
POLR2E
ECgene alternative splicing isoforms for
POLR2E

Expression for POLR2E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POLR2E Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POLR2E Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for POLR2E Gene



Protein tissue co-expression partners for POLR2E Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POLR2E Gene:

POLR2E

SOURCE GeneReport for Unigene cluster for POLR2E Gene:

Hs.24301

Evidence on tissue expression from TISSUES for POLR2E Gene

  • Lung(4.7)
  • Heart(4.4)
  • Nervous system(4.4)
  • Skin(3.4)
  • Eye(3.3)
  • Kidney(3.1)
  • Liver(3)
  • Intestine(2.9)
  • Muscle(2.9)
  • Pancreas(2.8)
genes like me logo Genes that share expression patterns with POLR2E: view

Primer Products

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 POLR2E Gene

Orthologs for POLR2E Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLR2E Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLR2E 33 34
  • 99.66 (n)
oppossum
(Monodelphis domestica)
Mammalia POLR2E 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POLR2E 33 34
  • 92.06 (n)
dog
(Canis familiaris)
Mammalia POLR2E 33 34
  • 91.75 (n)
rat
(Rattus norvegicus)
Mammalia Polr2e 33
  • 90.32 (n)
mouse
(Mus musculus)
Mammalia Polr2e 33 16 34
  • 90 (n)
chicken
(Gallus gallus)
Aves POLR2E 33 34
  • 87.62 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia polr2e 33
  • 79.84 (n)
Str.471 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68604 33
zebrafish
(Danio rerio)
Actinopterygii POLR2E (2 of 2) 34
  • 92 (a)
OneToMany
polr2eb 33 34
  • 79.37 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10881 33
fruit fly
(Drosophila melanogaster)
Insecta Rpb5 35 33 34
  • 77.35 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010064 33
  • 73.68 (n)
worm
(Caenorhabditis elegans)
Secernentea H27M09.2 35
  • 77 (a)
rpb-5 34
  • 77 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER036W 33
  • 55.72 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F21098g 33
  • 50.99 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPB5 33 34 36
  • 49.75 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons NRPB5 33
  • 56.37 (n)
soybean
(Glycine max)
eudicotyledons Gma.10585 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3372 33
rice
(Oryza sativa)
Liliopsida Os01g0805800 33
  • 57.82 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.22111 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 85 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU05305 33
  • 52.05 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpb5 33
  • 48.35 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2190 33
Species where no ortholog for POLR2E was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for POLR2E Gene

ENSEMBL:
Gene Tree for POLR2E (if available)
TreeFam:
Gene Tree for POLR2E (if available)

Paralogs for POLR2E Gene

Pseudogenes.org Pseudogenes for POLR2E Gene

genes like me logo Genes that share paralogs with POLR2E: view

No data available for Paralogs for POLR2E Gene

Variants for POLR2E Gene

Sequence variations from dbSNP and Humsavar for POLR2E Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000018092 -- 1,086,523(-) G/A downstream_transcript_variant
rs1000068220 -- 1,089,139(-) G/A intron_variant
rs1000079166 -- 1,088,972(-) C/T intron_variant
rs1000276483 -- 1,095,603(-) T/C upstream_transcript_variant
rs1000299192 -- 1,092,269(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for POLR2E Gene

Variant ID Type Subtype PubMed ID
nsv9662 CNV gain 18304495
nsv953938 CNV deletion 24416366
nsv833704 CNV gain 17160897
nsv828366 CNV loss 20364138
nsv578215 CNV gain 21841781
nsv470103 CNV gain 18288195
nsv470102 CNV loss 18288195
nsv469845 CNV loss 16826518
nsv1160555 CNV deletion 26073780
nsv1058677 CNV loss 25217958
esv2758743 CNV gain+loss 17122850
dgv136n111 CNV deletion 26073780
dgv135n111 CNV deletion 26073780

Variation tolerance for POLR2E Gene

Residual Variation Intolerance Score: 35.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.58; 12.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLR2E Gene

Human Gene Mutation Database (HGMD)
POLR2E
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLR2E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLR2E Gene

Disorders for POLR2E Gene

MalaCards: The human disease database

(1) MalaCards diseases for POLR2E Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 5
  • cms5
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for POLR2E

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 POLR2E: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POLR2E Gene

Publications for POLR2E Gene

  1. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S … Benhamou S (Carcinogenesis 2009) 3 44 58
  2. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 44 58
  3. Mutational analysis of human RNA polymerase II subunit 5 (RPB5): the residues critical for interactions with TFIIF subunit RAP30 and hepatitis B virus X protein. (PMID: 16169872) Le TT … Murakami S (Journal of biochemistry 2005) 3 22 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 58

Products for POLR2E Gene

Sources for POLR2E Gene

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