Gene Gene information from NCBI Gene database.
Entrez ID 5434
Gene name RNA polymerase II, I and III subunit E
Gene symbol POLR2E
Synonyms (NCBI Gene)
RPABC1RPB5XAP4hRPB25hsRPB5
Chromosome 19
Chromosome location 19p13.3
Summary 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 th
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1297383239 T>C Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
520
miRTarBase ID miRNA Experiments Reference
MIRT025749 hsa-miR-7-5p Microarray 19073608
MIRT045424 hsa-miR-149-5p CLASH 23622248
MIRT042771 hsa-miR-339-5p CLASH 23622248
MIRT038716 hsa-miR-99a-3p CLASH 23622248
MIRT715322 hsa-miR-8062 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000428 Component DNA-directed RNA polymerase complex IEA
GO:0003677 Function DNA binding IEA
GO:0003899 Function DNA-directed RNA polymerase activity IBA
GO:0003899 Function DNA-directed RNA polymerase activity IEA
GO:0003899 Function DNA-directed RNA polymerase activity TAS 7828586
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
180664 9192 ENSG00000099817
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P19388
Protein name DNA-directed RNA polymerases I, II, and III subunit RPABC1 (RNA polymerases I, II, and III subunit ABC1) (DNA-directed RNA polymerase II 23 kDa polypeptide) (DNA-directed RNA polymerase II subunit E) (RPB5 homolog) (XAP4)
Protein 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
PDB 5IY6 , 5IY7 , 5IY8 , 5IY9 , 5IYA , 5IYB , 5IYC , 5IYD , 6DRD , 6O9L , 6XRE , 7A6H , 7AE1 , 7AE3 , 7AEA , 7AST , 7D58 , 7D59 , 7DN3 , 7DU2 , 7FJI , 7FJJ , 7LBM , 7OB9 , 7OBA , 7OBB , 7VBA , 7VBB , 7VBC , 8A43 , 8ITY , 8IUE , 8IUH , 9EHZ , 9EI1 , 9EI3 , 9EI4 , 9FSO , 9FSP , 9FSQ , 9FSR , 9FSS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03871 RNA_pol_Rpb5_N 4 94 RNA polymerase Rpb5, N-terminal domain Domain
PF01191 RNA_pol_Rpb5_C 137 209 RNA polymerase Rpb5, C-terminal domain Domain
Sequence
Sequence length 210
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  RNA polymerase
Nucleotide excision repair
Cytosolic DNA-sensing pathway
Huntington disease
  Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of HIV-1 elongation complex containing HIV-1 Tat
Viral Messenger RNA Synthesis
Cytosolic sensors of pathogen-associated DNA
MicroRNA (miRNA) biogenesis
B-WICH complex positively regulates rRNA expression
Transcriptional regulation by small RNAs
RNA Polymerase II Pre-transcription Events
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
TP53 Regulates Transcription of DNA Repair Genes
FGFR2 alternative splicing
RNA polymerase II transcribes snRNA genes
mRNA Capping
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
Processing of Capped Intron-Containing Pre-mRNA
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase II Promoter Escape
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase I Transcription Termination
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Elongation
RNA Polymerase II Transcription Initiation And Promoter Clearance
RNA Polymerase III Transcription Initiation From Type 1 Promoter
RNA Polymerase III Transcription Initiation From Type 2 Promoter
RNA Polymerase III Transcription Initiation From Type 3 Promoter
RNA Pol II CTD phosphorylation and interaction with CE
Estrogen-dependent gene expression
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Short stature Pathogenic rs1297383239 RCV000736219
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
cervical cancer Cervical Cancer BEFREE 30846411
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 30846411
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 36811212 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal carcinoma Esophageal Carcinoma BEFREE 25874495, 30846411
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophagus Neoplasm BEFREE 25874495, 30846411
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 25874495, 38300349 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 25874495 Inhibit
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 25874495 Associate
★☆☆☆☆
Found in Text Mining only
Graves Ophthalmopathy Graves ophthalmopathy Pubtator 37884559 Associate
★☆☆☆☆
Found in Text Mining only
Hematologic Diseases Hematologic disease Pubtator 28260796 Associate
★☆☆☆☆
Found in Text Mining only