Free for academic non-profit institutions. Other users need a Commercial license

Aliases for POLR2A Gene

Aliases for POLR2A Gene

  • Polymerase (RNA) II Subunit A 2 3
  • Polymerase (RNA) II (DNA Directed) Polypeptide A, 220kDa 2 3 5
  • RNA Polymerase II Subunit B1 2 3 4
  • DNA-Directed RNA Polymerase III Largest Subunit 3 4
  • RNA-Directed RNA Polymerase II Subunit RPB1 3 4
  • DNA-Directed RNA Polymerase II Subunit A 3 4
  • EC 2.7.7.6 4 63
  • POLR2 3 4
  • DNA-Directed RNA Polymerase II Largest Subunit, RNA Polymerase II 220 Kd Subunit 3
  • DNA-Directed RNA Polymerase II Largest Subunit 2
  • RNA Polymerase II 220 Kd Subunit 2
  • EC 2.7.7.48 4
  • HRPB220 3
  • RpIILS 3
  • HsRPB1 3
  • POLRA 3
  • RPBh1 3
  • RPOL2 3
  • RPB1 3
  • RPO2 3

External Ids for POLR2A Gene

Previous HGNC Symbols for POLR2A Gene

  • POLR2

Previous GeneCards Identifiers for POLR2A Gene

  • GC17M007800
  • GC17P008117
  • GC17P007330
  • GC17P007588
  • GC17P007329
  • GC17P007387
  • GC17P007491
  • GC17P007493

Summaries for POLR2A Gene

Entrez Gene Summary for POLR2A Gene

  • This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]

GeneCards Summary for POLR2A Gene

POLR2A (Polymerase (RNA) II Subunit A) is a Protein Coding gene. Diseases associated with POLR2A include La Crosse Encephalitis and Subcutaneous Mycosis. Among its related pathways are mRNA Splicing - Major Pathway and Influenza Viral RNA Transcription and Replication. GO annotations related to this gene include poly(A) RNA binding and DNA-directed RNA polymerase activity. An important paralog of this gene is POLR3A.

UniProtKB/Swiss-Prot for POLR2A Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Forms the polymerase active center together with the second largest subunit. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB1 is part of the core element with the central large cleft, the clamp element that moves to open and close the cleft and the jaws that are thought to grab the incoming DNA template. At the start of transcription, a single-stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol II. A bridging helix emanates from RPB1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol II by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition. During transcription elongation, Pol II moves on the template as the transcript elongates. Elongation is influenced by the phosphorylation status of the C-terminal domain (CTD) of Pol II largest subunit (RPB1), which serves as a platform for assembly of factors that regulate transcription initiation, elongation, termination and mRNA processing. Acts as an RNA-dependent RNA polymerase when associated with small delta antigen of Hepatitis delta virus, acting both as a replicate and transcriptase for the viral RNA circular genome.

Gene Wiki entry for POLR2A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLR2A Gene

Genomics for POLR2A Gene

Regulatory Elements for POLR2A Gene

Enhancers for POLR2A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around POLR2A on UCSC Golden Path with GeneCards custom track

Promoters for POLR2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POLR2A on UCSC Golden Path with GeneCards custom track

Genomic Location for POLR2A Gene

Chromosome:
17
Start:
7,484,366 bp from pter
End:
7,514,618 bp from pter
Size:
30,253 bases
Orientation:
Plus strand

Genomic View for POLR2A Gene

Genes around POLR2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLR2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLR2A Gene

Proteins for POLR2A Gene

  • Protein details for POLR2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24928-RPB1_HUMAN
    Recommended name:
    DNA-directed RNA polymerase II subunit RPB1
    Protein Accession:
    P24928
    Secondary Accessions:
    • A6NN93
    • B9EH88
    • Q6NX41

    Protein attributes for POLR2A Gene

    Size:
    1970 amino acids
    Molecular mass:
    217176 Da
    Quaternary structure:
    • Component of the RNA polymerase II (Pol II) complex consisting of 12 subunits. Component of a complex which is at least composed of HTATSF1/Tat-SF1, the P-TEFb complex components CDK9 and CCNT1, RNA polymerase II, SUPT5H, and NCL/nucleolin. The large PER complex involved in the repression of transcriptional termination is composed of at least PER2, CDK9, DDX5, DHX9, NCBP1 and POLR2A (active). Interacts (via the C-terminal domain (CTD)) with U2AF2; recruits PRPF19 and the Prp19 complex to the pre-mRNA and may couple transcription to pre-mRNA splicing. Interacts (via the C-terminal domain (CTD)) with SMN1/SMN2; recruits SMN1/SMN2 to RNA Pol II elongation complexes. Interacts via the phosphorylated C-terminal domain with WDR82 and with SETD1A and SETD1B only in the presence of WDR82. When phosphorylated at Ser-5, interacts with MEN1; the unphosphorylated form, or phosphorylated at Ser-2 does not interact. When phosphorylated at Ser-2, interacts with SUPT6H (via SH2 domain). Interacts with RECQL5 and TCEA1; binding of RECQL5 prevents TCEA1 binding. The phosphorylated C-terminal domain interacts with FNBP3 and SYNCRIP. Interacts with ATF7IP. Interacts with DDX5. Interacts with WWP2. Interacts with SETX. Interacts (phosphorylated) with PIH1D1. Interacts (via the C-terminal domain (CTD)) with TDRD3. Interacts with PRMT5. Interacts with XRN2. Interacts with SAFB/SAFB1. Interacts with CCNL1. Interacts with CCNL2, MYO1C, PAF1 and SFRS19. Interacts (via C-terminus) with CMTR1, CTDSP1 and SCAF8. Interacts (via the C-terminal domain (CTD)) with CCNT2 (PubMed:15563843).
    • (Microbial infection) Interacts with herpes simplex virus 1 protein ICP22; this interaction causes loss of CTD Ser-2 phosphorylation from pol II engaged in transcription (PubMed:23029222).
    Miscellaneous:
    • The binding of ribonucleoside triphosphate to the RNA polymerase II transcribing complex probably involves a two-step mechanism. The initial binding seems to occur at the entry (E) site and involves a magnesium ion temporarily coordinated by three conserved aspartate residues of the two largest RNA Pol II subunits. The ribonucleoside triphosphate is transferred by a rotation to the nucleotide addition (A) site for pairing with the template DNA. The catalytic A site involves three conserved aspartate residues of the RNA Pol II largest subunit which permanently coordinate a second magnesium ion.

    Three dimensional structures from OCA and Proteopedia for POLR2A Gene

    Alternative splice isoforms for POLR2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLR2A Gene

Proteomics data for POLR2A Gene at MOPED

Post-translational modifications for POLR2A Gene

  • Among tandem heptapeptide repeats of the C-terminal domain (CTD) some do not match the Y-S-P-T-S-P-S consensus, the seventh serine residue Ser-7 being replaced by a lysine. Lys-7 in these non-consensus heptapeptide repeats can be alternatively acetylated, methylated and dimethylated. EP300 is one of the enzyme able to acetylate Lys-7. Acetylation at Lys-7 of non-consensus heptapeptide repeats is associated with Ser-2 phosphorylation and active transcription. It may regulate initiation or early elongation steps of transcription specially for inducible genes.
  • Methylated at Arg-1810 prior to transcription initiation when the CTD is hypophosphorylated, phosphorylation at Ser-1805 and Ser-1808 preventing this methylation. Symmetrically or asymmetrically dimethylated at Arg-1810 by PRMT5 and CARM1 respectively. Symmetric or asymmetric dimethylation modulates interactions with CTD-binding proteins like SMN1/SMN2 and TDRD3. SMN1/SMN2 interacts preferentially with the symmetrically dimethylated form while TDRD3 interacts with the asymmetric form. Through the recruitment of SMN1/SMN2, symmetric dimethylation is required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination. CTD dimethylation may also facilitate the expression of select RNAs. Among tandem heptapeptide repeats of the C-terminal domain (CTD) some do not match the Y-S-P-T-S-P-S consensus, the seventh serine residue Ser-7 being replaced by a lysine. Lys-7 in these non-consensus heptapeptide repeats can be alternatively acetylated, methylated and dimethylated. Methylation occurs in the earliest transcription stages and precedes or is concomitant to Ser-5 and Ser-7 phosphorylation.
  • The tandem heptapeptide repeats in the C-terminal domain (CTD) can be highly phosphorylated. The phosphorylation activates Pol II. Phosphorylation occurs mainly at residues Ser-2 and Ser-5 of the heptapeptide repeat and is mediated, at least, by CDK7 and CDK9. CDK7 phosphorylation of POLR2A associated with DNA promotes transcription initiation by triggering dissociation from DNA. Phosphorylation also takes place at Ser-7 of the heptapeptide repeat, which is required for efficient transcription of snRNA genes and processing of the transcripts. The phosphorylation state is believed to result from the balanced action of site-specific CTD kinases and phosphatases, and a CTD code that specifies the position of Pol II within the transcription cycle has been proposed. Dephosphorylated by the protein phosphatase CTDSP1.
  • Ubiquitinated by WWP2 leading to proteasomal degradation (By similarity). Following UV treatment, the elongating form of RNA polymerase II (RNA pol IIo) is ubiquitinated UV damage sites without leading to degradation: ubiquitination is facilitated by KIAA1530/UVSSA and promotes RNA pol IIo backtracking to allow access to the nucleotide excision repair machinery.
  • Ubiquitination at Lys 42, Lys 163, Lys 213, Lys 279, Lys 285, Lys 619, Lys 707, Lys 710, Lys 758, Lys 767, Lys 796, Lys 803, Lys 812, Lys 853, Lys 866, Lys 910, Lys 940, Lys 976, Lys 992, Lys 1008, Lys 1019, Lys 1125, Lys 1225, Lys 1268, Lys 1319, and Lys 1350
  • Modification sites at PhosphoSitePlus

Other Protein References for POLR2A Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for POLR2A Gene

Gene Families for POLR2A Gene

Suggested Antigen Peptide Sequences for POLR2A Gene

Graphical View of Domain Structure for InterPro Entry

P24928

UniProtKB/Swiss-Prot:

RPB1_HUMAN :
  • The C-terminal domain (CTD) serves as a platform for assembly of factors that regulate transcription initiation, elongation, termination and mRNA processing.
  • Belongs to the RNA polymerase beta chain family.
Domain:
  • The C-terminal domain (CTD) serves as a platform for assembly of factors that regulate transcription initiation, elongation, termination and mRNA processing.
Family:
  • Belongs to the RNA polymerase beta chain family.
genes like me logo Genes that share domains with POLR2A: view

Function for POLR2A Gene

Molecular function for POLR2A Gene

GENATLAS Biochemistry:
polymerase II,RNA (DNA directed) large polypeptide A (220kDa)
UniProtKB/Swiss-Prot CatalyticActivity:
Nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1).
UniProtKB/Swiss-Prot Function:
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Forms the polymerase active center together with the second largest subunit. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB1 is part of the core element with the central large cleft, the clamp element that moves to open and close the cleft and the jaws that are thought to grab the incoming DNA template. At the start of transcription, a single-stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol II. A bridging helix emanates from RPB1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol II by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition. During transcription elongation, Pol II moves on the template as the transcript elongates. Elongation is influenced by the phosphorylation status of the C-terminal domain (CTD) of Pol II largest subunit (RPB1), which serves as a platform for assembly of factors that regulate transcription initiation, elongation, termination and mRNA processing. Acts as an RNA-dependent RNA polymerase when associated with small delta antigen of Hepatitis delta virus, acting both as a replicate and transcriptase for the viral RNA circular genome.

Enzyme Numbers (IUBMB) for POLR2A Gene

Gene Ontology (GO) - Molecular Function for POLR2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 contributes_to protein binding IPI 16239144
genes like me logo Genes that share ontologies with POLR2A: view
genes like me logo Genes that share phenotypes with POLR2A: view

Animal Models for POLR2A Gene

MGI Knock Outs for POLR2A:

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POLR2A Gene

Localization for POLR2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR2A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLR2A Gene COMPARTMENTS Subcellular localization image for POLR2A gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for POLR2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005719 nuclear euchromatin IEA --
genes like me logo Genes that share ontologies with POLR2A: view

Pathways & Interactions for POLR2A Gene

SuperPathways for POLR2A Gene

Superpath Contained pathways
1 Formation of the HIV-1 Early Elongation Complex
2 RNA Polymerase II Transcription Initiation And Promoter Clearance
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
4 mRNA Splicing - Major Pathway
5 Assembly of RNA Polymerase-II Initiation Complex
genes like me logo Genes that share pathways with POLR2A: view

SIGNOR curated interactions for POLR2A Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for POLR2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006281 DNA repair TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006353 DNA-templated transcription, termination IMP 26700805
GO:0006366 transcription from RNA polymerase II promoter IEA,TAS --
genes like me logo Genes that share ontologies with POLR2A: view

Drugs & Compounds for POLR2A Gene

(9) Drugs for POLR2A Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytarabine Approved, Investigational Pharma 1054
Adenosine triphosphate Approved Nutra 0
Cytidine triphosphate Experimental Pharma 0
Diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for POLR2A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2

(3) ApexBio Compounds for POLR2A Gene

Compound Action Cas Number
Cytarabine 147-94-4
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 POLR2A: view

Transcripts for POLR2A Gene

Unigene Clusters for POLR2A Gene

Polymerase (RNA) II (DNA directed) polypeptide A, 220kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for POLR2A Gene

No ASD Table

Relevant External Links for POLR2A Gene

GeneLoc Exon Structure for
POLR2A
ECgene alternative splicing isoforms for
POLR2A

Expression for POLR2A Gene

mRNA expression in normal human tissues for POLR2A Gene

Protein differential expression in normal tissues from HIPED for POLR2A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.9), Lymph node (11.9), and Nasal epithelium (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for POLR2A Gene



SOURCE GeneReport for Unigene cluster for POLR2A Gene Hs.270017

genes like me logo Genes that share expression patterns with POLR2A: view

Protein tissue co-expression partners for POLR2A Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for POLR2A Gene

Orthologs for POLR2A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLR2A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia POLR2A 35
  • 91.54 (n)
  • 99.95 (a)
POLR2A 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLR2A 35
  • 90.58 (n)
  • 99.7 (a)
POLR2A 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polr2a 35
  • 90.17 (n)
  • 99.94 (a)
Polr2a 16
Polr2a 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POLR2A 35
  • 97.22 (n)
  • 98.5 (a)
POLR2A 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polr2a 35
  • 89.61 (n)
  • 99.9 (a)
oppossum
(Monodelphis domestica)
Mammalia POLR2A 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLR2A 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLR2A 36
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polr2a 35
  • 80.38 (n)
  • 95.52 (a)
Str.17483 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7189 35
zebrafish
(Danio rerio)
Actinopterygii polr2a 35
  • 79.96 (n)
  • 94.77 (a)
polr2a 36
  • 95 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RpII215 37
  • 76 (a)
RpII215 35
  • 68.29 (n)
  • 74.96 (a)
RpII215 36
  • 73 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007810 35
  • 68.97 (n)
  • 76.22 (a)
worm
(Caenorhabditis elegans)
Secernentea ama-1 37
  • 69 (a)
ama-1 35
  • 63.27 (n)
  • 71.35 (a)
ama-1 36
  • 70 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR086C 35
  • 55.8 (n)
  • 53.86 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05071g 35
  • 54.33 (n)
  • 53.7 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPO21 35
  • 53.25 (n)
  • 55.61 (a)
RPO31 36
  • 32 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons NRPB1 35
  • 58.53 (n)
  • 60.73 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.5170 35
rice
(Oryza sativa)
Liliopsida Os05g0151000 35
  • 58.67 (n)
  • 60.15 (a)
corn
(Zea mays)
Liliopsida Zm.4606 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2262 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02103 35
  • 56.65 (n)
  • 52.1 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpb1 35
  • 55.65 (n)
  • 56.18 (a)
Species with no ortholog for POLR2A:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 POLR2A Gene

ENSEMBL:
Gene Tree for POLR2A (if available)
TreeFam:
Gene Tree for POLR2A (if available)

Paralogs for POLR2A Gene

Paralogs for POLR2A Gene

(2) SIMAP similar genes for POLR2A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with POLR2A: view

Variants for POLR2A Gene

Sequence variations from dbSNP and Humsavar for POLR2A Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs2229198 - 7,497,410(+) TGCGG(C/T)GCAAT reference, missense
rs6761 -- 7,514,346(+) GCAGA(C/T)TCTTG utr-variant-3-prime
rs8753 -- 7,514,323(+) AACTT(C/T)TGGAT utr-variant-3-prime
rs9533 -- 7,514,234(+) GCTGC(C/T)GTGCA utr-variant-3-prime
rs25603 -- 7,498,017(+) CAGGG(-/CTCTGGGGTG)AGGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POLR2A Gene

Variant ID Type Subtype PubMed ID
esv2422288 CNV Deletion 17116639
nsv457659 CNV Loss 19166990
nsv523672 CNV Loss 19592680
dgv3054n71 CNV Loss 21882294
esv2677329 CNV Deletion 23128226

Variation tolerance for POLR2A Gene

Residual Variation Intolerance Score: 0.114% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLR2A Gene

Human Gene Mutation Database (HGMD)
POLR2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLR2A Gene

Disorders for POLR2A Gene

MalaCards: The human disease database

(6) MalaCards diseases for POLR2A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
la crosse encephalitis
  • california encephalitis
subcutaneous mycosis
  • subcutaneous fungal disease
setx
chromoblastomycosis
  • chromomycosis
trichomoniasis
  • trichomonas infection
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for POLR2A

Genetic Association Database (GAD)
POLR2A
Human Genome Epidemiology (HuGE) Navigator
POLR2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLR2A
genes like me logo Genes that share disorders with POLR2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POLR2A Gene

Publications for POLR2A Gene

  1. The human gene encoding the largest subunit of RNA polymerase II. (PMID: 7622068) Mita K. … Hayashi A. (Gene 1995) 3 4 23 67
  2. Hyperphosphorylation of RNA polymerase II in response to topoisomerase I cleavage complexes and its association with transcription- and BRCA1-dependent degradation of topoisomerase I. (PMID: 18588899) Sordet O. … Pommier Y. (J. Mol. Biol. 2008) 3 23
  3. Ash2L enables P53-dependent apoptosis by favoring stable transcription pre-initiation complex formation on its pro-apoptotic target promoters. (PMID: 25023704) Mungamuri S.K. … Aaronson S.A. (Oncogene 2015) 3
  4. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3

Products for POLR2A Gene

Sources for POLR2A Gene

Content