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Aliases for POLR3B Gene

Aliases for POLR3B Gene

  • Polymerase (RNA) III (DNA Directed) Polypeptide B 2 3
  • C128 3 4 6
  • DNA-Directed RNA Polymerase III 127.6 KDa Polypeptide 3 4
  • DNA-Directed RNA Polymerase III Subunit B 3 4
  • RNA Polymerase III Subunit C2 3 4
  • EC 2.7.7.6 4 63
  • RPC2 3 6
  • HLD8 3 6
  • Interphase Nucleus And Mitotic Apparatus Associated Protein 3
  • DNA-Directed RNA Polymerase III Subunit RPC2 3
  • INMAP 3

External Ids for POLR3B Gene

Previous GeneCards Identifiers for POLR3B Gene

  • GC12P105254
  • GC12P105255
  • GC12P106751
  • GC12P103811

Summaries for POLR3B Gene

Entrez Gene Summary for POLR3B Gene

  • This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for POLR3B Gene

POLR3B (Polymerase (RNA) III (DNA Directed) Polypeptide B) is a Protein Coding gene. Diseases associated with POLR3B include leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism and pol iii-related leukodystrophies. Among its related pathways are Epstein-Barr virus infection and Metabolism. GO annotations related to this gene include RNA polymerase III activity and ribonucleoside binding. An important paralog of this gene is POLR2B.

UniProtKB/Swiss-Prot for POLR3B Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol III is composed of mobile elements and RPC2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity). Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLR3B Gene

Genomics for POLR3B Gene

Regulatory Elements for POLR3B Gene

Genomic Location for POLR3B Gene

Start:
106,357,658 bp from pter
End:
106,510,198 bp from pter
Size:
152,541 bases
Orientation:
Plus strand

Genomic View for POLR3B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POLR3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLR3B Gene

Proteins for POLR3B Gene

  • Protein details for POLR3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NW08-RPC2_HUMAN
    Recommended name:
    DNA-directed RNA polymerase III subunit RPC2
    Protein Accession:
    Q9NW08
    Secondary Accessions:
    • A8K6H0
    • B3KV73
    • F5H1E6
    • Q9NW59

    Protein attributes for POLR3B Gene

    Size:
    1133 amino acids
    Molecular mass:
    127785 Da
    Quaternary structure:
    • Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits.
    SequenceCaution:
    • Sequence=BAA91527.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91581.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for POLR3B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLR3B Gene

Proteomics data for POLR3B Gene at MOPED

Post-translational modifications for POLR3B Gene

  • Ubiquitination at Lys157, Lys324, Lys691, and Lys950
  • Modification sites at PhosphoSitePlus

Other Protein References for POLR3B Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for POLR3B Gene

Gene Families for POLR3B Gene

HGNC:
  • POLR :RNA polymerase subunits

Suggested Antigen Peptide Sequences for POLR3B Gene

Graphical View of Domain Structure for InterPro Entry

Q9NW08

UniProtKB/Swiss-Prot:

RPC2_HUMAN :
  • Q9NW08
Family:
  • Belongs to the RNA polymerase beta chain family.
genes like me logo Genes that share domains with POLR3B: view

Function for POLR3B Gene

Molecular function for POLR3B Gene

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. Second largest core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol III is composed of mobile elements and RPC2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity). Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway.

Enzyme Numbers (IUBMB) for POLR3B Gene

Gene Ontology (GO) - Molecular Function for POLR3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001056 contributes_to RNA polymerase III activity IBA --
GO:0003677 DNA binding IEA --
GO:0003899 DNA-directed RNA polymerase activity --
GO:0032549 ribonucleoside binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with POLR3B: view

Phenotypes for POLR3B Gene

GenomeRNAi human phenotypes for POLR3B:
genes like me logo Genes that share phenotypes with POLR3B: view

miRNA for POLR3B Gene

miRTarBase miRNAs that target POLR3B

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for POLR3B Gene

Localization for POLR3B Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR3B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLR3B Gene COMPARTMENTS Subcellular localization image for POLR3B gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for POLR3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005666 DNA-directed RNA polymerase III complex IDA 24107381
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with POLR3B: view

Pathways for POLR3B Gene

genes like me logo Genes that share pathways with POLR3B: view

Gene Ontology (GO) - Biological Process for POLR3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated --
GO:0006383 transcription from RNA polymerase III promoter TAS --
GO:0006385 transcription elongation from RNA polymerase III promoter TAS --
GO:0006386 termination of RNA polymerase III transcription TAS --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with POLR3B: view

Compounds for POLR3B Gene

(4) HMDB Compounds for POLR3B Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Cytidine triphosphate
  • cytidine 5'-(tetrahydrogen triphosphate)
65-47-4
Guanosine triphosphate
  • 5'-GTP
86-01-1
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
365-08-2
genes like me logo Genes that share compounds with POLR3B: view

Transcripts for POLR3B Gene

Unigene Clusters for POLR3B Gene

Polymerase (RNA) III (DNA directed) polypeptide B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for POLR3B Gene

No ASD Table

Relevant External Links for POLR3B Gene

GeneLoc Exon Structure for
POLR3B
ECgene alternative splicing isoforms for
POLR3B

Expression for POLR3B Gene

mRNA expression in normal human tissues for POLR3B Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for POLR3B Gene

SOURCE GeneReport for Unigene cluster for POLR3B Gene Hs.62696

genes like me logo Genes that share expressions with POLR3B: view

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 POLR3B Gene

Orthologs for POLR3B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLR3B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLR3B 35
  • 99.79 (n)
  • 100 (a)
POLR3B 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POLR3B 35
  • 92.97 (n)
  • 99.74 (a)
POLR3B 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLR3B 35
  • 92.41 (n)
  • 99.82 (a)
POLR3B 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polr3b 35
  • 89.47 (n)
  • 99.38 (a)
Polr3b 16
Polr3b 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POLR3B 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLR3B 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polr3b 35
  • 89.09 (n)
  • 99.38 (a)
chicken
(Gallus gallus)
Aves POLR3B 35
  • 83.63 (n)
  • 97.08 (a)
POLR3B 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLR3B 36
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polr3b 35
  • 79.58 (n)
  • 94.35 (a)
Str.3762 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9197 35
zebrafish
(Danio rerio)
Actinopterygii polr3b 35
  • 77.58 (n)
  • 94.34 (a)
polr3b 36
  • 94 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008151 35
  • 62.14 (n)
  • 70.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta RpIII128 35
  • 63.73 (n)
  • 69.49 (a)
RpIII128 36
  • 67 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F09F7.3 35
  • 61.33 (n)
  • 64.81 (a)
rpc-2 36
  • 62 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL275C 35
  • 62.26 (n)
  • 65.3 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RET1 35
  • 61.42 (n)
  • 63.92 (a)
RET1 38
RPB2 36
  • 34 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F01078g 35
  • 60.57 (n)
  • 64.15 (a)
soybean
(Glycine max)
eudicotyledons Gma.5065 35
thale cress
(Arabidopsis thaliana)
eudicotyledons NRPC2 35
  • 58.53 (n)
  • 58.41 (a)
corn
(Zea mays)
Liliopsida Zm.3221 35
rice
(Oryza sativa)
Liliopsida Os.23203 35
Os03g0403100 35
  • 57.7 (n)
  • 58.06 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.6722 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01772 35
  • 56.94 (n)
  • 58.27 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpc2 35
  • 60.3 (n)
  • 65.03 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 70 (a)
OneToOne
Species with no ortholog for POLR3B:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for POLR3B Gene

ENSEMBL:
Gene Tree for POLR3B (if available)
TreeFam:
Gene Tree for POLR3B (if available)

Paralogs for POLR3B Gene

Paralogs for POLR3B Gene

Selected SIMAP similar genes for POLR3B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with POLR3B: view

Variants for POLR3B Gene

Sequence variations from dbSNP and Humsavar for POLR3B Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1578965 -- 106,443,195(-) tagta(A/G)gaaaa intron-variant
rs1882413 -- 106,361,300(+) GTAGA(A/C)TTTTT intron-variant
rs2141774 -- 106,431,574(+) AAATA(A/G)TTTTA intron-variant
rs2141775 -- 106,431,662(+) ATGTA(A/G)CCATA intron-variant
rs2243506 -- 106,374,198(-) AAATT(G/T)GGTAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POLR3B Gene

Variant ID Type Subtype PubMed ID
nsv832510 CNV Loss 17160897
nsv507670 CNV Insertion 20534489
esv270867 CNV Insertion 20981092

Relevant External Links for POLR3B Gene

HapMap Linkage Disequilibrium report
POLR3B
Human Gene Mutation Database (HGMD)
POLR3B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLR3B Gene

Disorders for POLR3B Gene

(1) OMIM Diseases for POLR3B Gene (614366)

UniProtKB/Swiss-Prot

RPC2_HUMAN
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]: An autosomal recessive neurodegenerative disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism. {ECO:0000269 PubMed:22036171, ECO:0000269 PubMed:22036172, ECO:0000269 PubMed:23355746}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for POLR3B Gene

Relevant External Links for POLR3B

Genetic Association Database (GAD)
POLR3B
Human Genome Epidemiology (HuGE) Navigator
POLR3B
genes like me logo Genes that share disorders with POLR3B: view

Publications for POLR3B Gene

  1. Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits. (PMID: 12391170) Hu P. … Hernandez N. (Mol. Cell. Biol. 2002) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  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
  4. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PMID: 17903297) Seshadri S. … Wolf P.A. (BMC Med. Genet. 2007) 3 48
  5. RIG-I-dependent sensing of poly(dA:dT) through the induction of an RNA polymerase III-transcribed RNA intermediate. (PMID: 19609254) Ablasser A. … Hornung V. (Nat. Immunol. 2009) 3 4

Products for POLR3B Gene

Sources for POLR3B Gene

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