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 stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by... See more...

Aliases for POLR2F Gene

Aliases for POLR2F Gene

  • RNA Polymerase II, I And III Subunit F 2 3
  • RNA Polymerase II Subunit F 2 3 5
  • DNA-Directed RNA Polymerases I, II, And III 14.4 KDa Polypeptide 3 4
  • DNA-Directed RNA Polymerases I, II, And III Subunit RPABC2 3 4
  • Polymerase (RNA) II (DNA Directed) Polypeptide F 2 3
  • RNA Polymerases I, II, And III Subunit ABC2 3 4
  • DNA-Directed RNA Polymerase II Subunit F 3 4
  • RPABC14.4 3 4
  • HRBP14.4 2 3
  • RPB14.4 3 4
  • POLRF 3 4
  • RPC15 3 4
  • RPB6 2 3
  • DNA Directed RNA Polymerase II 14.4 Kda Polypeptide 2
  • RNA Polymerase II Subunit 14.4 KD 3
  • Polymerase (RNA) II Subunit F 3
  • RPB6 Homolog 4
  • RPABC2 3
  • POLR2F 5

External Ids for POLR2F Gene

Previous GeneCards Identifiers for POLR2F Gene

  • GC22P034964
  • GC22P036592
  • GC22P036674
  • GC22P038348
  • GC22P021315

Summaries for POLR2F Gene

Entrez Gene Summary for POLR2F Gene

  • 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 stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for POLR2F Gene

POLR2F (RNA Polymerase II, I And III Subunit F) is a Protein Coding gene. Diseases associated with POLR2F include Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease and Waardenburg Syndrome, Type 4C. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include DNA-directed 5'-3' RNA polymerase activity and RNA polymerase I activity.

UniProtKB/Swiss-Prot Summary for POLR2F Gene

  • DNA-dependent RNA polymerases catalyze 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, POLR2F/RPB6 is part of the clamp element and together with parts of RPB1 and RPB2 forms a pocket to which the RPB4-RPB7 subcomplex binds (By similarity).

Gene Wiki entry for POLR2F Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLR2F Gene

Genomics for POLR2F Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POLR2F Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLR2F on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLR2F

Top Transcription factor binding sites by QIAGEN in the POLR2F gene promoter:
  • AML1a
  • GCNF
  • GCNF-1
  • GCNF-2
  • RORalpha1
  • SRF
  • SRF (504 AA)
  • STAT5A
  • STAT5B

Genomic Locations for POLR2F Gene

Genomic Locations for POLR2F Gene
chr22:37,952,607-38,041,915
(GRCh38/hg38)
Size:
89,309 bases
Orientation:
Plus strand
chr22:38,348,614-38,437,922
(GRCh37/hg19)
Size:
89,309 bases
Orientation:
Plus strand

Genomic View for POLR2F Gene

Genes around POLR2F on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR2F Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLR2F Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLR2F Gene

Proteins for POLR2F Gene

  • Protein details for POLR2F Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61218-RPAB2_HUMAN
    Recommended name:
    DNA-directed RNA polymerases I, II, and III subunit RPABC2
    Protein Accession:
    P61218
    Secondary Accessions:
    • P41584
    • Q6IAY3

    Protein attributes for POLR2F Gene

    Size:
    127 amino acids
    Molecular mass:
    14478 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.

    Three dimensional structures from OCA and Proteopedia for POLR2F Gene

neXtProt entry for POLR2F Gene

Post-translational modifications for POLR2F Gene

  • Ubiquitination at Lys59 and Lys101
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for POLR2F Gene

Domains & Families for POLR2F Gene

Gene Families for POLR2F Gene

Suggested Antigen Peptide Sequences for POLR2F Gene

GenScript: Design optimal peptide antigens:
  • Polymerase (RNA) II (DNA directed) polypeptide F (B0QYL6_HUMAN)
  • Polymerase (RNA) II (DNA directed) polypeptide F (B0QYL7_HUMAN)
  • RPC15 (RPAB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61218

UniProtKB/Swiss-Prot:

RPAB2_HUMAN :
  • Belongs to the archaeal RpoK/eukaryotic RPB6 RNA polymerase subunit family.
Family:
  • Belongs to the archaeal RpoK/eukaryotic RPB6 RNA polymerase subunit family.
genes like me logo Genes that share domains with POLR2F: view

Function for POLR2F Gene

Molecular function for POLR2F Gene

UniProtKB/Swiss-Prot Function:
DNA-dependent RNA polymerases catalyze 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, POLR2F/RPB6 is part of the clamp element and together with parts of RPB1 and RPB2 forms a pocket to which the RPB4-RPB7 subcomplex binds (By similarity).
GENATLAS Biochemistry:
polymerase II,RNA (DNA directed),small polypeptide F(14.4kDa)

Phenotypes From GWAS Catalog for POLR2F Gene

Gene Ontology (GO) - Molecular Function for POLR2F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003899 contributes_to DNA-directed 5'-3' RNA polymerase activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with POLR2F: view
genes like me logo Genes that share phenotypes with POLR2F: view

Animal Model Products

CRISPR Products

miRNA for POLR2F Gene

miRTarBase miRNAs that target POLR2F

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR2F

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POLR2F Gene

Localization for POLR2F Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR2F 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 POLR2F gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLR2F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA,IDA 9852112
GO:0005654 nucleoplasm IDA,TAS --
GO:0005665 RNA polymerase II, core complex IEA,IDA 9852112
GO:0005666 RNA polymerase III complex IBA 21873635
genes like me logo Genes that share ontologies with POLR2F: view

Pathways & Interactions for POLR2F Gene

PathCards logo

SuperPathways for POLR2F Gene

SuperPathway Contained pathways
1 HIV Transcription Elongation
2 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
3 RNA Polymerase II Transcription Initiation And Promoter Clearance
.91
.91
.33
4 RNA Polymerase III Transcription Initiation
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with POLR2F: view

Pathways by source for POLR2F Gene

3 GeneGo (Thomson Reuters) pathways for POLR2F Gene
  • ATP/ITP metabolism
  • DNA damage_Role of Brca1 and Brca2 in DNA repair
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes
2 Qiagen pathways for POLR2F Gene
  • Assembly of RNA Polymerase-II Initiation Complex
  • Transcription of mRNA

Gene Ontology (GO) - Biological Process for POLR2F 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 POLR2F: view

No data available for SIGNOR curated interactions for POLR2F Gene

Drugs & Compounds for POLR2F Gene

(6) Drugs for POLR2F Gene - From: ApexBio and 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, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0
PSI-6206 Pharma Inhibitor of HCV RNA polymerase,potent and selective 0

(1) Additional Compounds for POLR2F Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8

(2) ApexBio Compounds for POLR2F Gene

Compound Action Cas Number
PSI-6206 Inhibitor of HCV RNA polymerase,potent and selective 863329-66-2
PSI-7977 Antiviral agents for chronic HCV infection 1190307-88-0
genes like me logo Genes that share compounds with POLR2F: view

Drug Products

Transcripts for POLR2F Gene

mRNA/cDNA for POLR2F Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR2F

Alternative Splicing Database (ASD) splice patterns (SP) for POLR2F Gene

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

Relevant External Links for POLR2F Gene

GeneLoc Exon Structure for
POLR2F

Expression for POLR2F Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POLR2F Gene

Protein differential expression in normal tissues from HIPED for POLR2F Gene

This gene is overexpressed in Pancreas (27.2), CD8 Tcells (9.8), and Uterus (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for POLR2F Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLR2F

SOURCE GeneReport for Unigene cluster for POLR2F Gene:

Hs.436578

Evidence on tissue expression from TISSUES for POLR2F Gene

  • Liver(4.5)
  • Nervous system(4.4)
  • Muscle(2.4)
  • Heart(2.1)
  • Skin(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with POLR2F: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for POLR2F Gene

Orthologs for POLR2F Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLR2F Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia POLR2F 30 31
  • 99.74 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia POLR2F 31
  • 99 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia POLR2F 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia POLR2F 30 31
  • 92.91 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia POLR2F 30 31
  • 92.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Polr2f 30
  • 90.81 (n)
Mouse
(Mus musculus)
Mammalia Polr2f 30 17 31
  • 89.5 (n)
OneToOne
Chicken
(Gallus gallus)
Aves RPB6 31
  • 97 (a)
OneToOne
POLR2F 30
  • 83.99 (n)
Lizard
(Anolis carolinensis)
Reptilia POLR2F 31
  • 99 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia polr2f 30
  • 82.41 (n)
Str.6446 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8852 30
Zebrafish
(Danio rerio)
Actinopterygii polr2f 30 31
  • 79 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6027 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005873 30
  • 70 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta RpII18 30 31 32
  • 68.69 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea C06A1.5 32
  • 79 (a)
rpb-6 30 31
  • 62.37 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPO26 31
  • 46 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons NRPB6B 30
  • 64.47 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7968 30
Rice
(Oryza sativa)
Liliopsida Os03g0586600 30
  • 67.45 (n)
Corn
(Zea mays)
Liliopsida Zm.16590 30
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8576 30
Species where no ortholog for POLR2F was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for POLR2F Gene

ENSEMBL:
Gene Tree for POLR2F (if available)
TreeFam:
Gene Tree for POLR2F (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POLR2F: view image

Paralogs for POLR2F Gene

No data available for Paralogs for POLR2F Gene

Variants for POLR2F Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLR2F Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
635541 Likely Pathogenic: Waardenburg syndrome type 2E 37,983,355(+) A/G SPLICE_DONOR_VARIANT,INTRON_VARIANT
637874 Uncertain Significance: Charcot-Marie-Tooth disease 37,973,859(+) G/C NONSENSE,INTRON_VARIANT
666758 Likely Benign: not specified 37,973,651(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
666759 Likely Benign: not specified 37,974,047(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
666923 Uncertain Significance: not specified 37,983,714(+) G/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for POLR2F Gene

Structural Variations from Database of Genomic Variants (DGV) for POLR2F Gene

Variant ID Type Subtype PubMed ID
esv3568391 CNV loss 25503493
esv3647723 CNV loss 21293372
esv3647724 CNV gain 21293372
nsv471198 CNV loss 18288195
nsv473594 CNV novel sequence insertion 20440878
nsv834193 CNV loss 17160897

Variation tolerance for POLR2F Gene

Residual Variation Intolerance Score: 40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.34; 63.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLR2F Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLR2F

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLR2F Gene

Disorders for POLR2F Gene

MalaCards: The human disease database

(10) MalaCards diseases for POLR2F Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for POLR2F

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with POLR2F: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POLR2F Gene

Publications for POLR2F Gene

  1. Genomic structure of the RNA polymerase II small subunit (hRPB14.4) locus (POLRF) and mapping to 22q13.1 by sequence identity. (PMID: 8786150) Pusch C … Blin N (Genomics 1996) 2 3 4 23
  2. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S … Benhamou S (Carcinogenesis 2009) 3 41
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  5. Isolation and characterization of monoclonal antibodies directed against subunits of human RNA polymerases I, II, and III. (PMID: 10623476) Jones E … Cook PR (Experimental cell research 2000) 3 23

Products for POLR2F Gene

Sources for POLR2F Gene