U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 246721, updated on 11-Apr-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
7q22.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (102666046..102671663, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (103977870..103983486, complement)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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 (13) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

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.

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_2023_10

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous