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Gene Gene information from NCBI Gene database.
Entrez ID 5435
Gene name RNA polymerase II, I and III subunit F
Gene symbol POLR2F
Synonyms (NCBI Gene)
HRBP14.4POLRFRPABC14.4RPABC2RPB14.4RPB6RPC15
Chromosome 22
Chromosome location 22q13.1
Summary This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilize
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs533778281 G>C Likely-pathogenic, uncertain-significance Genic downstream transcript variant, intron variant
rs606231342 G>A Likely-pathogenic Intron variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
406 Show/Hide all (406)
miRTarBase ID miRNA Experiments Reference
MIRT029533 hsa-miR-26b-5p Microarray 19088304
MIRT044569 hsa-miR-320a CLASH 23622248
MIRT044006 hsa-miR-378a-5p CLASH 23622248
MIRT036080 hsa-miR-1296-5p CLASH 23622248
MIRT503651 hsa-miR-4676-5p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23 Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0000428 Component DNA-directed RNA polymerase complex IEA
GO:0001650 Component Fibrillar center IDA
GO:0003677 Function DNA binding IEA
GO:0003899 Function DNA-directed RNA polymerase activity IBA
GO:0003899 Function DNA-directed RNA polymerase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604414 9193 ENSG00000100142
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61218
Protein name DNA-directed RNA polymerases I, II, and III subunit RPABC2 (RNA polymerases I, II, and III subunit ABC2) (DNA-directed RNA polymerase II subunit F) (DNA-directed RNA polymerases I, II, and III 14.4 kDa polypeptide) (RPABC14.4) (RPB14.4) (RPB6 homolog) (RP
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 1QKL , 5IY6 , 5IY7 , 5IY8 , 5IY9 , 5IYA , 5IYB , 5IYC , 5IYD , 6DRD , 6O9L , 6XRE , 7A6H , 7AE1 , 7AE3 , 7AEA , 7AST , 7D58 , 7D59 , 7DN3 , 7DTH , 7DTI , 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
PF01192 RNA_pol_Rpb6 51 → 104 RNA polymerase Rpb6 Family
Sequence
MSDNEDNFDGDDFDDVEEDEGLDDLENAEEEGQENVEILPSGERPQANQKRITTPYMTKY
ERARVLGTRALQIAMCAPVMVELEGETDPLLIAMKELKARKIPI
IIRRYLPDGSYEDWGV
DELIITD
Sequence length 127
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
Cytosolic DNA-sensing pathway Formation of HIV-1 elongation complex containing HIV-1 Tat
Huntington disease 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.).
11
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)
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.
Show/Hide Unknown Diseases (11)
Phenotype Name Clinical Significance Source Reference Evidence Score
CHARCOT-MARIE-TOOTH DISEASE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Intellectual disability Uncertain significance ClinVar
Disgenet
—
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
KALLMANN SYNDROME — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (22)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinogenesis Carcinogenesis Pubtator 18505059 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 18505059
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 18505059
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms LHGDN 18505059
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 18505059 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Demyelinating sensory neuropathy Demyelinating Sensory Neuropathy CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 31633244
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 31633244
★★★★★
★☆☆☆☆
Found in Text Mining only
Graves Ophthalmopathy Graves ophthalmopathy Pubtator 37884559 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hirschsprung Disease Hirschsprung Disease CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations