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    POLR2J2 RNA polymerase II subunit J2 [ Homo sapiens (human) ]

    Gene ID: 246721, updated on 2-Nov-2024

    Summary

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    Official Symbol
    POLR2J2provided by HGNC
    Official Full Name
    RNA polymerase II subunit J2provided by HGNC
    Primary source
    HGNC:HGNC:23208
    See related
    Ensembl:ENSG00000228049 MIM:609881; AllianceGenome:HGNC:23208
    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
    HRPB11B; RPB11b1
    Summary
    This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in esophagus (RPKM 55.4), thyroid (RPKM 33.8) and 25 other tissues See more
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    Genomic context

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    See POLR2J2 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (102666046..102671663, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (103977870..103983486, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (102306493..102312110, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene POLR2J2-UPK3BL1 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:102281267-102281768 Neighboring gene uroplakin 3B like 1 Neighboring gene speedy/RINGO cell cycle regulator family member E2B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:102321101-102321878 Neighboring gene uncharacterized LOC124901713 Neighboring gene RAS p21 protein activator 4D, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:102348051-102348175 Neighboring gene Sharpr-MPRA regulatory region 2028 Neighboring gene family with sequence similarity 185 member A Neighboring gene ribosomal protein L7a pseudogene 39

    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 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. Human PMS2 gene family: origin, molecular evolution, and biological implications. Shpakovskii DG, et al. Dokl Biochem Biophys, 2006 May-Jun. PMID 16913423
    2. Distinct regions of RPB11 are required for heterodimerization with RPB3 in human and yeast RNA polymerase II. Benga WJ, et al. Nucleic Acids Res, 2005. PMID 15987790, Free PMC Article
    3. [New genes on human chromosome 7: bioinformatic analysis of a gene cluster from the POLR2J family]. Shpakovskiĭ DG, et al. Bioorg Khim, 2004 Nov-Dec. PMID 15586814
    4. A human RNA polymerase II subunit is encoded by a recently generated multigene family. Grandemange S, et al. BMC Mol Biol, 2001. PMID 11747469, Free PMC Article
    5. The thymocyte-specific MAR binding protein, SATB1, interacts in vitro with a novel variant of DNA-directed RNA polymerase II, subunit 11. Durrin LK, et al. Genomics, 2002 Jun. PMID 12036295

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    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

    Readthrough POLR2J2-UPK3BL1

    Readthrough gene: POLR2J2-UPK3BL1, Included gene: UPK3BL1

    Homology

    Clone Names

    • MGC54043, MGC105050

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to RNA polymerase II activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of RNA polymerase II, core complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    DNA-directed RNA polymerase II subunit RPB11-b1
    Names
    DNA directed RNA polymerase II polypeptide J-related
    DNA-directed RNA polymerase II subunit J2
    RNA polymerase II subunit B11-b1
    polymerase (RNA) II (DNA directed) polypeptide J2
    polymerase (RNA) II subunit J2

    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.

    mRNA and Protein(s)

    1. NM_032959.7 → NP_116581.3  DNA-directed RNA polymerase II subunit RPB11-b1

      See identical proteins and their annotated locations for NP_116581.3

      Status: REVIEWED

      Source sequence(s)
      AC105052
      Consensus CDS
      CCDS43627.1
      UniProtKB/Swiss-Prot
      F6W009, Q9GZM3, Q9H1A8
      Related
      ENSP00000330898.7, ENST00000333432.9
      Conserved Domains (1) summary
      cd06926
      Location:14 → 104
      RNAP_II_RPB11; RPB11 subunit of Eukaryotic RNA polymerase II

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      102666046..102671663 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      103977870..103983486 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032958.3: Suppressed sequence

      Description
      NM_032958.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_145325.2: Suppressed sequence

      Description
      NM_145325.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, and it may be a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9GZM3.2 GenPept UniProtKB/Swiss-Prot:Q9GZM3

    Gene LinkOut

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

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