POLR3B (RNA polymerase III subunit B)

2013-07-01  

Identity

HGNC
LOCATION
12q23.3
LOCUSID
ALIAS
C128,HLD8,INMAP,RPC2
FUSION GENES

Other Information

Locus ID:

NCBI: 55703
MIM: 614366
HGNC: 30348
Ensembl: ENSG00000013503

Variants:

dbSNP: 55703
ClinVar: 55703
TCGA: ENSG00000013503
COSMIC: POLR3B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000013503ENST00000228347Q9NW08
ENSG00000013503ENST00000539066Q9NW08
ENSG00000013503ENST00000549569F8VRU2

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Pyrimidine metabolismKEGGko00240
RNA polymeraseKEGGko03020
Purine metabolismKEGGhsa00230
Pyrimidine metabolismKEGGhsa00240
RNA polymeraseKEGGhsa03020
Cytosolic DNA-sensing pathwayKEGGko04623
Cytosolic DNA-sensing pathwayKEGGhsa04623
Metabolic pathwaysKEGGhsa01100
RNA polymerase III, eukaryotesKEGGhsa_M00181
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
RNA polymerase III, eukaryotesKEGGM00181
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Cytosolic sensors of pathogen-associated DNAREACTOMER-HSA-1834949
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
RNA Polymerase III TranscriptionREACTOMER-HSA-74158
RNA Polymerase III Abortive And Retractive InitiationREACTOMER-HSA-749476
RNA Polymerase III Transcription InitiationREACTOMER-HSA-76046
RNA Polymerase III Transcription Initiation From Type 1 PromoterREACTOMER-HSA-76061
RNA Polymerase III Transcription Initiation From Type 2 PromoterREACTOMER-HSA-76066
RNA Polymerase III Transcription Initiation From Type 3 PromoterREACTOMER-HSA-76071
RNA Polymerase III Chain ElongationREACTOMER-HSA-73780
RNA Polymerase III Transcription TerminationREACTOMER-HSA-73980

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
220361722011Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.50
220361712011Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.46
253392102014Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.46
123911702002Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits.32
233557462013Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.31
270296252016Diffuse hypomyelination is not obligate for POLR3-related disorders.17
275120132017Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.13
236434452014Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.11
260113002015POLR3A and POLR3B Mutations in Unclassified Hypomyelination.7

Citation

Dessen P

POLR3B (RNA polymerase III subunit B)

Atlas Genet Cytogenet Oncol Haematol. 2013-07-01

Online version: http://atlasgeneticsoncology.org/gene/53461/polr3b