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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
    mouse all
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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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    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.

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