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Aliases for POLR2H Gene

Aliases for POLR2H Gene

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

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 Subunit H) is a Protein Coding gene. Diseases associated with POLR2H include Spherocytosis, Hereditary, Type 5. Among its related pathways are HIV Life Cycle and Formation of HIV elongation complex in the absence of HIV Tat. GO annotations related to this gene include RNA polymerase III activity and RNA polymerase II activity.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLR2H Gene

Genomics for POLR2H Gene

Regulatory Elements for POLR2H Gene

Enhancers for POLR2H Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G184764 1.4 Ensembl ENCODE dbSUPER 15.3 +404.1 404065 2.9 HDGF PKNOX1 ATF1 ARNT GTF3C2 SMARCA4 PBX2 KDM1A CTCF KLF1 POLR2H EIF2B5 RPS3P3 ALG3 LINC01840 MAGEF1 EPHB3 PIR43404 LINC02069
GH03G184184 1.4 ENCODE dbSUPER 14 -175.6 -175617 3.6 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 VWA5B2 POLR2H ABCF3 EIF2B5 ECE2 ALG3 MIR1224 CAMK2N2 PSMD2 EIF4G1
GH03G184298 1.1 ENCODE 13 -62.0 -62045 2.9 HDGF PKNOX1 CREB3L1 MLX ARNT AGO1 ARID4B SIN3A DMAP1 FEZF1 RPS3P3 EIF2B5 POLR2H PSMD2 ABCF3 ALG3 VWA5B2 PIR58473
GH03G183979 1.1 ENCODE 12.8 -380.3 -380333 3.3 CREB3L1 AGO1 SIN3A DMAP1 ZBTB7B ZNF766 ZNF207 SP3 SP5 MXD4 ABCC5 RPS3P3 EIF2B5 POLR2H ALG3 ABCC5-AS1 PIR62380
GH03G184899 0.8 ENCODE dbSUPER 15.6 +538.4 538398 1.7 PKNOX1 ZNF26 POU5F1 REST ETS1 VPS8 POLR2H GC03P184954
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POLR2H on UCSC Golden Path with GeneCards custom track

Promoters for POLR2H Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000162915 886 2801 HDGF PKNOX1 MLX CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for POLR2H Gene

Chromosome:
3
Start:
184,361,714 bp from pter
End:
184,368,596 bp from pter
Size:
6,883 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

Protein Domains for POLR2H Gene

Suggested Antigen Peptide Sequences for POLR2H Gene

GenScript: Design optimal peptide antigens:

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.

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:

Animal Model Products

miRNA for POLR2H Gene

miRTarBase miRNAs that target POLR2H

Inhibitory RNA Products

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 5
cytoskeleton 3

Gene Ontology (GO) - Cellular Components for POLR2H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 9852112
GO:0005654 nucleoplasm TAS --
GO:0005665 DNA-directed RNA polymerase II, core complex IDA 9852112
GO:0005730 nucleolus IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with POLR2H: view

Pathways & Interactions for POLR2H Gene

SuperPathways for POLR2H Gene

SuperPathway Contained pathways
1 Formation of HIV elongation complex in the absence of HIV Tat
2 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
3 RNA Polymerase II Transcription Initiation And Promoter Clearance
4 RNA Polymerase III Transcription Initiation
5 mRNA Capping
genes like me logo Genes that share pathways with POLR2H: view

Interacting Proteins for POLR2H Gene

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 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 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
Adenosine triphosphate Approved Nutra 0
Cytidine triphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Uridine triphosphate Experimental Pharma 0

(1) Additional Compounds for POLR2H Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with POLR2H: view

Transcripts for POLR2H Gene

Unigene Clusters for POLR2H Gene

Polymerase (RNA) II (DNA directed) polypeptide H:
Representative Sequences:

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
POLR2H

Expression for POLR2H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of POLR2H Gene:

POLR2H

SOURCE GeneReport for Unigene cluster for POLR2H Gene:

Hs.432574
genes like me logo Genes that share expression patterns with POLR2H: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES 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
oppossum
(Monodelphis domestica)
Mammalia POLR2H 35
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLR2H 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POLR2H 34
  • 99.73 (n)
cow
(Bos Taurus)
Mammalia POLR2H 34 35
  • 93.56 (n)
dog
(Canis familiaris)
Mammalia POLR2H 34
  • 92.89 (n)
mouse
(Mus musculus)
Mammalia Polr2h 34 16 35
  • 92 (n)
rat
(Rattus norvegicus)
Mammalia LOC100912534 34
  • 90.44 (n)
chicken
(Gallus gallus)
Aves POLR2H 34 35
  • 82.22 (n)
lizard
(Anolis carolinensis)
Reptilia POLR2H 35
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polr2h 34
  • 77.78 (n)
Str.7362 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.25337 34
zebrafish
(Danio rerio)
Actinopterygii polr2h 34 35
  • 79.56 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3078 34
fruit fly
(Drosophila melanogaster)
Insecta Rpb8 36 34 35
  • 68.68 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012397 34
  • 65.56 (n)
worm
(Caenorhabditis elegans)
Secernentea rpb-8 34 35
  • 63.29 (n)
F26F4.11 36
  • 63 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPB8 35
  • 35 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons NRPB8A 34
  • 56.26 (n)
rice
(Oryza sativa)
Liliopsida Os03g0845700 34
  • 57.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5023 35
  • 74 (a)
OneToOne
Species where no ortholog for POLR2H was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for POLR2H Gene

No data available for Paralogs for POLR2H Gene

Variants for POLR2H Gene

Sequence variations from dbSNP and Humsavar for POLR2H Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000196001 -- 184,361,647(+) CGCTC(C/G)CGTCC upstream-variant-2KB, utr-variant-5-prime
rs1000238210 -- 184,364,140(+) CGAGT(A/G)ATCTG intron-variant
rs1000955646 -- 184,368,019(+) AGATG(A/G)AACAG intron-variant
rs1001141188 -- 184,361,539(+) GGCTC(C/G)CGGCC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001762184 -- 184,364,316(+) CCTCC(A/G)TCTCC intron-variant

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)

Relevant External Links for POLR2H Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLR2H Gene

Disorders for POLR2H Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spherocytosis, hereditary, type 5
  • hereditary spherocytosis type 5
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for POLR2H

Genetic Association Database (GAD)
POLR2H
Human Genome Epidemiology (HuGE) Navigator
POLR2H
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLR2H
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 46 64
  2. Structural, biochemical, and dynamic characterizations of the hRPB8 subunit of human RNA polymerases. (PMID: 16632472) Kang X. … Jin C. (J. Biol. Chem. 2006) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 C.-M. (J. Biol. Chem. 1998) 3 4 64
  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 G.V. … Vigneron M. (Mol. Cell. Biol. 1995) 3 4 64

Products for POLR2H Gene

Sources for POLR2H Gene

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