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Gene Gene information from NCBI Gene database.
Entrez ID 5431
Gene name RNA polymerase II subunit B
Gene symbol POLR2B
Synonyms (NCBI Gene)
POL2RBRPB2hRPB140
Chromosome 4
Chromosome location 4q12
Summary This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the
miRNA miRNA information provided by mirtarbase database.
9 Show/Hide all (9)
miRTarBase ID miRNA Experiments Reference
MIRT023207 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT028617 hsa-miR-30a-5p Proteomics 18668040
MIRT040387 hsa-miR-615-3p CLASH 23622248
MIRT037880 hsa-miR-455-3p CLASH 23622248
MIRT2073335 hsa-miR-101 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30 Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0000428 Component DNA-directed RNA polymerase complex IEA
GO:0000781 Component Chromosome, telomeric region IDA 24270157
GO:0001172 Process RNA-templated transcription IEA
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding TAS 1518060
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
180661 9188 ENSG00000047315
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P30876
Protein name DNA-directed RNA polymerase II subunit RPB2 (EC 2.7.7.6) (3'-5' exoribonuclease) (EC 3.1.13.-) (DNA-directed RNA polymerase II 140 kDa polypeptide) (DNA-directed RNA polymerase II subunit B) (RNA polymerase II subunit 2) (RNA polymerase II subunit B2) (RN
Protein function Catalytic core component of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase which synthesizes mRNA precursors and many functional non-coding RNAs using the four ribonucleoside triphosphates as substrates (By similarity) (PubMed:271936
PDB 5IY6 , 5IY7 , 5IY8 , 5IY9 , 5IYA , 5IYB , 5IYC , 5IYD , 6DRD , 6O9L , 6XRE , 7LBM , 9EHZ , 9EI1 , 9EI3 , 9EI4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00562 RNA_pol_Rpb2_6 707 → 1080 RNA polymerase Rpb2, domain 6 Domain
PF04560 RNA_pol_Rpb2_7 1082 → 1174 RNA polymerase Rpb2, domain 7 Domain
PF04561 RNA_pol_Rpb2_2 201 → 394 RNA polymerase Rpb2, domain 2 Domain
PF04563 RNA_pol_Rpb2_1 38 → 442 RNA polymerase beta subunit Family
PF04565 RNA_pol_Rpb2_3 468 → 532 RNA polymerase Rpb2, domain 3 Domain
PF04566 RNA_pol_Rpb2_4 567 → 629 RNA polymerase Rpb2, domain 4 Domain
PF04567 RNA_pol_Rpb2_5 653 → 700 RNA polymerase Rpb2, domain 5 Domain
Sequence
Sequence length 1174
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
RNA polymerase Formation of RNA Pol II elongation complex
Nucleotide excision repair Formation of the Early Elongation Complex
Huntington disease Formation of HIV-1 elongation complex containing HIV-1 Tat
  Viral Messenger RNA Synthesis
  MicroRNA (miRNA) biogenesis
  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 II Promoter Escape
  RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
  RNA Polymerase II Transcription Initiation
  RNA Polymerase II Transcription Elongation
  RNA Polymerase II Transcription Initiation And Promoter Clearance
  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
Esophageal atresia/tracheoesophageal fistula Likely pathogenic rs1723396043 RCV001172299
★★★★★
★★★★☆
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 Reference Evidence Score
BREAST CANCER — GWAS catalog 29059683
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog 29059683
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE — GWAS catalog 28468790
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (7)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Age related macular degeneration Age-related macular degeneration BEFREE 23868022, 24235014
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 39217320 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 36367018 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 27111221
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 27111221 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathies Diabetic neuropathy Pubtator 36482994 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Keratitis Keratitis BEFREE 17507522
★★★★★
★☆☆☆☆
Found in Text Mining only