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    Tsr2 TSR2 20S rRNA accumulation [ Mus musculus (house mouse) ]

    Gene ID: 69499, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Tsr2provided by MGI
    Official Full Name
    TSR2 20S rRNA accumulationprovided by MGI
    Primary source
    MGI:MGI:1916749
    See related
    Ensembl:ENSMUSG00000025264 AllianceGenome:MGI:1916749
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2310007F12Rik
    Summary
    Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to act upstream of or within rRNA processing. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in Diamond-Blackfan anemia 14 with mandibulofacial dysostosis. Orthologous to human TSR2 (TSR2 ribosome maturation factor). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in frontal lobe adult (RPKM 12.0), CNS E18 (RPKM 11.2) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    X F3; X 68.46 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (149870090..149879539, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (151087094..151096543, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene guanine nucleotide binding protein nucleolar 3 like Neighboring gene STARR-positive B cell enhancer ABC_E8765 Neighboring gene STARR-seq mESC enhancer starr_48075 Neighboring gene predicted gene, 46690 Neighboring gene FYVE, RhoGEF and PH domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_48077 Neighboring gene STARR-seq mESC enhancer starr_48078 Neighboring gene 40S ribosomal protein S25 pseudogene Neighboring gene ribosomal protein S12, pseudogene 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article
    2. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
    3. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article
    4. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article
    5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within rRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    pre-rRNA-processing protein TSR2 homolog
    Names
    TSR2, 20S rRNA accumulation, homolog

    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_001164578.1 → NP_001158050.1  pre-rRNA-processing protein TSR2 homolog isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI098563, AL805937, CF732210, CJ072126
      Consensus CDS
      CCDS53222.1
      UniProtKB/Swiss-Prot
      A2ALP6, Q8C8T8, Q8R3M9
      UniProtKB/TrEMBL
      H7BWY8
      Related
      ENSMUSP00000026295.4, ENSMUST00000026295.10
      Conserved Domains (1) summary
      pfam10273
      Location:13 → 92
      WGG; Pre-rRNA-processing protein TSR2

    2. NM_175146.4 → NP_780355.2  pre-rRNA-processing protein TSR2 homolog isoform 2

      See identical proteins and their annotated locations for NP_780355.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AI098563, AK044504, AL805937, CJ072126
      Consensus CDS
      CCDS30468.2
      UniProtKB/Swiss-Prot
      A2ALP6, Q8C8T8, Q8R3M9
      UniProtKB/TrEMBL
      Z4YL87
      Related
      ENSMUSP00000108303.3, ENSMUST00000112683.9
      Conserved Domains (1) summary
      pfam10273
      Location:13 → 92
      WGG; Pre-rRNA-processing protein TSR2

    RNA

    1. NR_028392.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI098563, AL805937, BG083382, CJ072126

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      149870090..149879539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C8T8.1 GenPept UniProtKB/Swiss-Prot:Q8C8T8

    Gene LinkOut

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

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