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Aliases for POLR3B Gene

Aliases for POLR3B Gene

  • Polymerase (RNA) III Subunit B 2 3
  • Polymerase (RNA) III (DNA Directed) Polypeptide B 2 3 5
  • 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
  • C128 3 4
  • Interphase Nucleus And Mitotic Apparatus Associated Protein 3
  • INMAP 3
  • HLD8 3
  • RPC2 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 Subunit 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 Cytosolic sensors of pathogen-associated DNA and Epstein-Barr virus infection. GO annotations related to this gene include DNA-directed RNA polymerase 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

Enhancers for POLR3B 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 POLR3B on UCSC Golden Path with GeneCards custom track

Promoters for POLR3B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POLR3B on UCSC Golden Path with GeneCards custom track

Genomic Location for POLR3B Gene

Chromosome:
12
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

Genes around POLR3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 157, Lys 324, Lys 691, and Lys 950
  • Modification sites at PhosphoSitePlus

Other Protein References for POLR3B Gene

Antibody Products

Domains & Families for POLR3B Gene

Gene Families for POLR3B Gene

Suggested Antigen Peptide Sequences for POLR3B Gene

Graphical View of Domain Structure for InterPro Entry

Q9NW08

UniProtKB/Swiss-Prot:

RPC2_HUMAN :
  • Belongs to the RNA polymerase beta chain family.
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:0003899 DNA-directed RNA polymerase activity IEA --
genes like me logo Genes that share ontologies with POLR3B: view
genes like me logo Genes that share phenotypes with POLR3B: view

Human Phenotype Ontology for POLR3B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for POLR3B Gene

miRTarBase miRNAs that target POLR3B

No data available for Animal Models , Transcription Factor Targets 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
cytosol 5
nucleus 5
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for POLR3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with POLR3B: view

Pathways & Interactions 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 IEA --
GO:0006383 transcription from RNA polymerase III promoter IBA,TAS --
GO:0032481 positive regulation of type I interferon production TAS --
GO:0045087 innate immune response IEA,TAS --
GO:0051607 defense response to virus IEA --
genes like me logo Genes that share ontologies with POLR3B: view

No data available for SIGNOR curated interactions for POLR3B Gene

Drugs & Compounds for POLR3B Gene

(5) Drugs for POLR3B Gene - From: HMDB

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

(1) Additional Compounds for POLR3B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
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

Protein differential expression in normal tissues from HIPED for POLR3B Gene

This gene is overexpressed in Neutrophil (55.1) and Plasma (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with POLR3B: view

Protein tissue co-expression partners for POLR3B Gene

Primer Products

In Situ Assay 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 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
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
chimpanzee
(Pan troglodytes)
Mammalia POLR3B 35
  • 99.79 (n)
  • 100 (a)
POLR3B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polr3b 35
  • 89.09 (n)
  • 99.38 (a)
oppossum
(Monodelphis domestica)
Mammalia POLR3B 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLR3B 36
  • 99 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii polr3b 35
  • 77.58 (n)
  • 94.34 (a)
polr3b 36
  • 94 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9197 35
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)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F01078g 35
  • 60.57 (n)
  • 64.15 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RET1 35
  • 61.42 (n)
  • 63.92 (a)
RPB2 36
  • 34 (a)
OneToMany
RET1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons NRPC2 35
  • 58.53 (n)
  • 58.41 (a)
soybean
(Glycine max)
eudicotyledons Gma.5065 35
rice
(Oryza sativa)
Liliopsida Os.23203 35
Os03g0403100 35
  • 57.7 (n)
  • 58.06 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.6722 35
corn
(Zea mays)
Liliopsida Zm.3221 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

(2) 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
rs17038460 - 106,454,636(+) ATGCA(A/G)CAGTT reference, missense
VAR_067005 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8)
VAR_067006 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8)
VAR_067008 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8)
VAR_067009 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8)

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

Variation tolerance for POLR3B Gene

Residual Variation Intolerance Score: 3.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.79; 58.24% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(6) MalaCards diseases for POLR3B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
  • hld8
pol iii-related leukodystrophies
  • leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
leukodystrophy
  • leukodystrophies
hypomyelinating leukoencephalopathy
cerebral degeneration
  • brain degeneration
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for POLR3B

Genetic Association Database (GAD)
POLR3B
Human Genome Epidemiology (HuGE) Navigator
POLR3B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLR3B
genes like me logo Genes that share disorders with POLR3B: view

No data available for Genatlas for POLR3B Gene

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 67
  2. INMAP overexpression inhibits cell proliferation, induces genomic instability and functions through p53/p21 pathways. (PMID: 25635878) Zhu Y. … Liang Q. (PLoS ONE 2015) 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. POLR3A and POLR3B Mutations in Unclassified Hypomyelination. (PMID: 26011300) Cayami F.K. … Wolf N.I. (Neuropediatrics 2015) 3
  5. Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. (PMID: 26045207) Gutierrez M. … Bernard G. (Orphanet J Rare Dis 2015) 3

Products for POLR3B Gene

Sources for POLR3B Gene

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