The three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [provi... See more...

Aliases for POLR2H Gene

Aliases for POLR2H Gene

  • RNA Polymerase II, I And III Subunit H 2 3
  • RNA Polymerase II Subunit H 2 3 5
  • DNA-Directed RNA Polymerases I, II, And III 17.1 KDa Polypeptide 3 4
  • DNA-Directed RNA Polymerases I, II, And III Subunit RPABC3 3 4
  • Polymerase (RNA) II (DNA Directed) Polypeptide H 2 3
  • DNA-Directed RNA Polymerase II Subunit H 3 4
  • RPB8 Homolog 3 4
  • RPB17 3 4
  • RPB8 2 3
  • RNA Polymerases I, II, And III Subunit ABC3 4
  • Polymerase (RNA) II Subunit H 3
  • RPABC3 3
  • POLR2H 5
  • HRPB8 4

External Ids for POLR2H Gene

Previous GeneCards Identifiers for POLR2H Gene

  • GC03M180516
  • GC03P185074
  • GC03P185481
  • GC03P185402
  • GC03P185563
  • GC03P184079
  • GC03P181487

Summaries for POLR2H Gene

Entrez Gene Summary for POLR2H Gene

  • The three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

GeneCards Summary for POLR2H Gene

POLR2H (RNA Polymerase II, I And III Subunit H) is a Protein Coding gene. Diseases associated with POLR2H include Myopathy, Centronuclear, 1. 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 RNA polymerase III activity and RNA polymerase II activity.

UniProtKB/Swiss-Prot Summary for POLR2H Gene

  • 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 many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively.

Gene Wiki entry for POLR2H Gene

Additional gene information for POLR2H Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLR2H Gene

Genomics for POLR2H Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POLR2H 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 POLR2H on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLR2H

Top Transcription factor binding sites by QIAGEN in the POLR2H gene promoter:
  • AP-1
  • CREB
  • deltaCREB
  • STAT5A

Genomic Locations for POLR2H Gene

Genomic Locations for POLR2H Gene
chr3:184,361,710-184,368,596
(GRCh38/hg38)
Size:
6,887 bases
Orientation:
Plus strand
chr3:184,079,506-184,086,384
(GRCh37/hg19)
Size:
6,879 bases
Orientation:
Plus strand

Genomic View for POLR2H Gene

Genes around POLR2H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR2H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLR2H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLR2H Gene

Proteins for POLR2H Gene

  • Protein details for POLR2H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52434-RPAB3_HUMAN
    Recommended name:
    DNA-directed RNA polymerases I, II, and III subunit RPABC3
    Protein Accession:
    P52434
    Secondary Accessions:
    • C9J413
    • C9JBJ6
    • C9JCU7
    • C9JUA8
    • P53802
    • Q969R0

    Protein attributes for POLR2H Gene

    Size:
    150 amino acids
    Molecular mass:
    17143 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. Directly interacts with POLR2A.

    Three dimensional structures from OCA and Proteopedia for POLR2H Gene

    Alternative splice isoforms for POLR2H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLR2H Gene

Post-translational modifications for POLR2H Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for POLR2H Gene

Domains & Families for POLR2H Gene

Gene Families for POLR2H Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for POLR2H Gene

InterPro:
Blocks:
  • RNA polymerase Rpb8
ProtoNet:

Suggested Antigen Peptide Sequences for POLR2H Gene

GenScript: Design optimal peptide antigens:
  • RPB8 homolog (RPAB3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52434

UniProtKB/Swiss-Prot:

RPAB3_HUMAN :
  • Belongs to the eukaryotic RPB8 RNA polymerase subunit family.
Family:
  • Belongs to the eukaryotic RPB8 RNA polymerase subunit family.
genes like me logo Genes that share domains with POLR2H: view

Function for POLR2H Gene

Molecular function for POLR2H Gene

UniProtKB/Swiss-Prot 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 many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively.

Phenotypes From GWAS Catalog for POLR2H Gene

Gene Ontology (GO) - Molecular Function for POLR2H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003697 single-stranded DNA binding IDA 16632472
GO:0003899 DNA-directed 5'-3' RNA polymerase activity IEA --
genes like me logo Genes that share ontologies with POLR2H: view
genes like me logo Genes that share phenotypes with POLR2H: view

Animal Models for POLR2H Gene

MGI Knock Outs for POLR2H:
  • Polr2h Polr2h<tm1.1(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for POLR2H Gene

miRTarBase miRNAs that target POLR2H

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR2H

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POLR2H Gene

Localization for POLR2H Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR2H Gene

Nucleus, nucleolus.

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 POLR2H gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 3
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POLR2H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 9852112
GO:0005654 nucleoplasm TAS --
GO:0005665 RNA polymerase II, core complex IDA 9852112
GO:0005666 RNA polymerase III complex IBA 21873635
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with POLR2H: view

Pathways & Interactions for POLR2H Gene

PathCards logo

SuperPathways for POLR2H 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 POLR2H: view

Pathways by source for POLR2H Gene

3 GeneGo (Thomson Reuters) pathways for POLR2H 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 POLR2H Gene
  • Assembly of RNA Polymerase-II Initiation Complex
  • Transcription of mRNA

Gene Ontology (GO) - Biological Process for POLR2H 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 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 POLR2H: view

No data available for SIGNOR curated interactions for POLR2H Gene

Drugs & Compounds for POLR2H Gene

(4) Drugs for POLR2H Gene - From: 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

(1) Additional Compounds for POLR2H 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
genes like me logo Genes that share compounds with POLR2H: view

Transcripts for POLR2H Gene

mRNA/cDNA for POLR2H Gene

7 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
13 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 POLR2H

Alternative Splicing Database (ASD) splice patterns (SP) for POLR2H Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g
SP1: - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - - - - - -
SP6: - - - - -
SP7: - - - - - -
SP8: - - -
SP9:
SP10: -

Relevant External Links for POLR2H Gene

GeneLoc Exon Structure for
POLR2H

Expression for POLR2H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POLR2H Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POLR2H Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POLR2H Gene



Protein tissue co-expression partners for POLR2H Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLR2H

SOURCE GeneReport for Unigene cluster for POLR2H Gene:

Hs.432574

Evidence on tissue expression from TISSUES for POLR2H Gene

  • Nervous system(2.5)
  • Skin(2.4)
  • Liver(2.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with POLR2H: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for POLR2H Gene

Orthologs for POLR2H Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLR2H Gene

Organism Taxonomy Gene Similarity Type Details
Platypus
(Ornithorhynchus anatinus)
Mammalia POLR2H 31
  • 100 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia POLR2H 31
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia POLR2H 30
  • 99.73 (n)
Cow
(Bos Taurus)
Mammalia POLR2H 30 31
  • 93.56 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia POLR2H 30
  • 92.89 (n)
Mouse
(Mus musculus)
Mammalia Polr2h 30 17 31
  • 92 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Polr2h 30
  • 90.44 (n)
Chicken
(Gallus gallus)
Aves POLR2H 30 31
  • 82.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia POLR2H 31
  • 99 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia polr2h 30
  • 77.78 (n)
Str.7362 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25337 30
Zebrafish
(Danio rerio)
Actinopterygii polr2h 30 31
  • 79.56 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3078 30
Fruit Fly
(Drosophila melanogaster)
Insecta Rpb8 30 31 32
  • 68.68 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012397 30
  • 65.56 (n)
Worm
(Caenorhabditis elegans)
Secernentea rpb-8 30 31
  • 63.29 (n)
OneToOne
F26F4.11 32
  • 63 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPB8 31
  • 35 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons NRPB8A 30
  • 56.26 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0845700 30
  • 57.82 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5023 31
  • 74 (a)
OneToOne
Species where no ortholog for POLR2H was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • 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)
  • Corn (Zea mays)
  • 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 Vase (Ciona intestinalis)
  • 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 POLR2H Gene

ENSEMBL:
Gene Tree for POLR2H (if available)
TreeFam:
Gene Tree for POLR2H (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POLR2H: view image

Paralogs for POLR2H Gene

No data available for Paralogs for POLR2H Gene

Variants for POLR2H Gene

Additional dbSNP identifiers (rs#s) for POLR2H Gene

Structural Variations from Database of Genomic Variants (DGV) for POLR2H Gene

Variant ID Type Subtype PubMed ID
esv2225212 CNV deletion 18987734
esv2422400 CNV duplication 17116639
esv2675995 CNV deletion 23128226
esv2726298 CNV deletion 23290073
nsv822363 CNV gain 20364138
nsv829813 CNV loss 17160897

Variation tolerance for POLR2H Gene

Residual Variation Intolerance Score: 44.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLR2H Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLR2H

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLR2H Gene

Disorders for POLR2H Gene

MalaCards: The human disease database

(1) MalaCards diseases for POLR2H Gene - From: DISEASES

Disorder Aliases PubMed IDs
myopathy, centronuclear, 1
  • cnm1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for POLR2H

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 POLR2H: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POLR2H Gene

Publications for POLR2H Gene

  1. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S … Benhamou S (Carcinogenesis 2009) 3 41
  2. Structural, biochemical, and dynamic characterizations of the hRPB8 subunit of human RNA polymerases. (PMID: 16632472) Kang X … Jin C (The Journal of biological chemistry 2006) 3 4
  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. Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes. (PMID: 9852112) Kershnar E … Chiang CM (The Journal of biological chemistry 1998) 3 4
  5. Four subunits that are shared by the three classes of RNA polymerase are functionally interchangeable between Homo sapiens and Saccharomyces cerevisiae. (PMID: 7651387) Shpakovski GV … Vigneron M (Molecular and cellular biology 1995) 3 4

Products for POLR2H Gene

Sources for POLR2H Gene