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POLR3B RNA polymerase III subunit B [ Homo sapiens (human) ]

Gene ID: 55703, updated on 11-Apr-2024

Summary

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Official Symbol
POLR3Bprovided by HGNC
Official Full Name
RNA polymerase III subunit Bprovided by HGNC
Primary source
HGNC:HGNC:30348
See related
Ensembl:ENSG00000013503 MIM:614366; AllianceGenome:HGNC:30348
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C128; HLD8; RPC2; CMT1I; INMAP
Summary
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]
Expression
Ubiquitous expression in esophagus (RPKM 2.4), thyroid (RPKM 2.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q23.3
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (106357748..106510198)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (106321061..106473832)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (106751526..106903976)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106696289-106697174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4816 Neighboring gene RNA, U7 small nuclear 94 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr12:106725081-106725582 Neighboring gene t-complex 11 like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106791431-106791932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106791933-106792432 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:106838256-106838461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106870783-106871355 Neighboring gene NANOG hESC enhancer GRCh37_chr12:106884667-106885244 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:106887966-106888130 Neighboring gene uncharacterized LOC100287944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106929421-106929920 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106934851-106935440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106944957-106945458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106974861-106975743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106977232-106977816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106979571-106980156 Neighboring gene Sharpr-MPRA regulatory region 8958 Neighboring gene Sharpr-MPRA regulatory region 7289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:107038213-107038714 Neighboring gene regulatory factor X4 Neighboring gene uncharacterized LOC100505978 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:107104586-107105785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6948 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:107167609-107168160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6949 Neighboring gene RIC8 guanine nucleotide exchange factor B Neighboring gene uncharacterized LOC105369961 Neighboring gene NANOG hESC enhancer GRCh37_chr12:107270199-107270748

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister. Bai H, et al. Medicine (Baltimore), 2022 Aug 26. PMID 36042647, Free PMC Article
  2. Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan. Ando M, et al. Ann Clin Transl Neurol, 2022 May. PMID 35482004, Free PMC Article
  3. Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery. Saghi M, et al. BMC Med Genomics, 2022 Apr 18. PMID 35436926, Free PMC Article
  4. De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy. Djordjevic D, et al. Am J Hum Genet, 2021 Jan 7. PMID 33417887, Free PMC Article
  5. 4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype. Verberne EA, et al. Am J Med Genet A, 2020 Jul. PMID 32319736, Free PMC Article

See all (80) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
    Title: A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
  2. Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.
    Title: Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.
  3. Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.
    Title: Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.
  4. Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery.
    Title: Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery.
  5. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
    Title: Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
  6. 4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.
    Title: 4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.
  7. De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
    Title: De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
  8. These results suggest that the deletion of INMAP block the formation of spindle, leading to arrest of cell cycle and DNA damage, finally blocking cell proliferation and inducing apoptosis.
    Title: Deletion of INMAP postpones mitotic exit and induces apoptosis by disabling the formation of mitotic spindle.
  9. Three novel mutations of POLR3B c.727A>G (p.Met243Val) and c.2669G>A (p.Arg890His) (P1, P2), and c.1495G>A (p.Met499Val) (P3) were found
    Title: POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.
  10. Novel compound heterozygous variations in POLR3B were identified in a patient with cerebellar hypoplasia with endosteal sclerosis.
    Title: Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.
EBI GWAS Catalog
Genome-wide association study of Tourette's syndrome.
EBI GWAS Catalog
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat upregulates the transcription by RNA polymerase III of co-transfected or endogenous cellular Alu-repeated sequences by activating transcription factor TFIIIC PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10388, DKFZp686B10117

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables DNA-directed 5'-3' RNA polymerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA/RNA hybrid binding IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to RNA polymerase III activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ribonucleoside binding IEA
Inferred from Electronic Annotation
more info
  
enables zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in defense response to virus IEA
Inferred from Electronic Annotation
more info
  
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of innate immune response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of interferon-beta production IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in snRNA transcription by RNA polymerase III IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of RNA polymerase III complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of RNA polymerase III complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
DNA-directed RNA polymerase III subunit RPC2
Names
DNA-directed RNA polymerase III 127.6 kDa polypeptide
DNA-directed RNA polymerase III subunit B
RNA polymerase III subunit C2
interphase nucleus and mitotic apparatus associated protein
polymerase (RNA) III (DNA directed) polypeptide B
polymerase (RNA) III subunit B
NP_001154180.1
NP_060552.4
XP_016875110.1
XP_054228500.1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031837.1 RefSeqGene

    Range
    5091..157541
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001160708.2 → NP_001154180.1  DNA-directed RNA polymerase III subunit RPC2 isoform 2

    See identical proteins and their annotated locations for NP_001154180.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at an in-frame downstream AUG, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC078992, AK122713, BC033724
    Consensus CDS
    CCDS53824.1
    UniProtKB/TrEMBL
    Q7Z3R8
    Related
    ENSP00000445721.1, ENST00000539066.5
    Conserved Domains (3) summary
    cd00653
    Location:1 → 1069
    RNA_pol_B_RPB2; RNA polymerase beta subunit. RNA polymerases catalyse the DNA dependent polymerization of RNA. Prokaryotes contain a single RNA polymerase compared to three in eukaryotes (not including mitochondrial. and chloroplast polymerases). Each RNA polymerase ...
    pfam04566
    Location:481 → 542
    RNA_pol_Rpb2_4; RNA polymerase Rpb2, domain 4
    pfam04567
    Location:563 → 603
    RNA_pol_Rpb2_5; RNA polymerase Rpb2, domain 5

  2. NM_018082.6 → NP_060552.4  DNA-directed RNA polymerase III subunit RPC2 isoform 1

    See identical proteins and their annotated locations for NP_060552.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC033724, BX537447
    Consensus CDS
    CCDS9105.1
    UniProtKB/Swiss-Prot
    A8K6H0, B3KV73, F5H1E6, Q9NW08, Q9NW59
    UniProtKB/TrEMBL
    Q7Z3R8
    Related
    ENSP00000228347.4, ENST00000228347.9
    Conserved Domains (3) summary
    cd00653
    Location:39 → 1127
    RNA_pol_B_RPB2; RNA polymerase beta subunit. RNA polymerases catalyse the DNA dependent polymerization of RNA. Prokaryotes contain a single RNA polymerase compared to three in eukaryotes (not including mitochondrial. and chloroplast polymerases). Each RNA polymerase ...
    pfam04566
    Location:539 → 600
    RNA_pol_Rpb2_4; RNA polymerase Rpb2, domain 4
    pfam04567
    Location:621 → 661
    RNA_pol_Rpb2_5; RNA polymerase Rpb2, domain 5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    106357748..106510198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019621.3 → XP_016875110.1  DNA-directed RNA polymerase III subunit RPC2 isoform X1

    UniProtKB/TrEMBL
    Q7Z3R8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    106321061..106473832
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372525.1 → XP_054228500.1  DNA-directed RNA polymerase III subunit RPC2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NW08.2 GenPept UniProtKB/Swiss-Prot:Q9NW08

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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