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    TSR2 TSR2 ribosome maturation factor [ Homo sapiens (human) ]

    Gene ID: 90121, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TSR2provided by HGNC
    Official Full Name
    TSR2 ribosome maturation factorprovided by HGNC
    Primary source
    HGNC:HGNC:25455
    See related
    Ensembl:ENSG00000158526 MIM:300945; AllianceGenome:HGNC:25455
    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
    WGG1; DBA14; DT1P1A10
    Summary
    The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia. [provided by RefSeq, Oct 2016]
    Expression
    Ubiquitous expression in brain (RPKM 38.9), kidney (RPKM 30.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    Xp11.22
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (54440404..54448032)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (53731260..53738888)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (54466837..54474465)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene WNK lysine deficient protein kinase 3 Neighboring gene ribosomal protein L7a pseudogene 71 Neighboring gene MPRA-validated peak7382 silencer Neighboring gene RNA, U6 small nuclear 434, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:54415213-54415877 Neighboring gene MPRA-validated peak7383 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29670 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:54505803-54506356 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20864 Neighboring gene FYVE, RhoGEF and PH domain containing 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:54556053-54556573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29673 Neighboring gene G protein nucleolar 3 like Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:54665616-54666141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29675 Neighboring gene phosphoglycerate mutase family member 4 pseudogene 1

    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. The novel protein TSR2 inhibits the transcriptional activity of nuclear factor-kappaB and induces apoptosis. He H, et al. Mol Biol (Mosk), 2011 May-Jun. PMID 21790011
    2. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Gripp KW, et al. Am J Med Genet A, 2014 Sep. PMID 24942156, Free PMC Article
    3. Molecular basis for disassembly of an importin:ribosomal protein complex by the escortin Tsr2. Schütz S, et al. Nat Commun, 2018 Sep 10. PMID 30201955, Free PMC Article
    4. Mapping and characterization of novel (CAG)n repeat cDNAs from adult human brain derived by the oligo capture method. Reddy PH, et al. Genomics, 1997 Dec 1. PMID 9417904
    5. Diamond-Blackfan Anemia. Adam MP, et al. , 1993. PMID 20301769

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. eS26-ESS and Tsr2 are components of a nuclear sorting system that co-evolved with the emergence of the nucleocytoplasmic barrier and transport carriers
      Title: Molecular basis for disassembly of an importin:ribosomal protein complex by the escortin Tsr2.
    2. A likely pathogenic X-linked mutation affecting a highly conserved residue was found in TSR2 and De novo mutations affecting the RPS28 start codon were found in two unrelated probands, identifying RPS28 as a novel disease gene.
      Title: Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
    3. This data for the first time suggests that TSR2 is involved in the NF-kappaB signaling pathway and may regulate apoptosis.
      Title: The novel protein TSR2 inhibits the transcriptional activity of nuclear factor-kappaB and induces apoptosis.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
    MedGen: C4225422 OMIM: 300946 GeneReviews: Diamond-Blackfan Anemia
    		Compare labs

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC20451

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    		  
    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
    WGG motif containing 1
    escortin

    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_051993.1 RefSeqGene

      Range
      5030..12658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346789.2 → NP_001333718.1  pre-rRNA-processing protein TSR2 homolog isoform b

      Status: REVIEWED

      Source sequence(s)
      Z85987

    2. NM_001346790.2 → NP_001333719.1  pre-rRNA-processing protein TSR2 homolog isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 4 and 5, encodes isoform c.
      Source sequence(s)
      Z85987

    3. NM_001346791.2 → NP_001333720.1  pre-rRNA-processing protein TSR2 homolog isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 3 and 5, encodes isoform c.
      Source sequence(s)
      Z85987

    4. NM_001346792.2 → NP_001333721.1  pre-rRNA-processing protein TSR2 homolog isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 3 and 4, encodes isoform c.
      Source sequence(s)
      Z85987

    5. NM_058163.3 → NP_477511.1  pre-rRNA-processing protein TSR2 homolog isoform a

      See identical proteins and their annotated locations for NP_477511.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AA251347, BC007699, BI488794, Z85987
      Consensus CDS
      CCDS14358.1
      UniProtKB/Swiss-Prot
      Q969E8
      Related
      ENSP00000364293.4, ENST00000375151.5
      Conserved Domains (1) summary
      pfam10273
      Location:12 → 90
      WGG; Pre-rRNA-processing protein TSR2

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      54440404..54448032
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      53731260..53738888
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969E8.1 GenPept UniProtKB/Swiss-Prot:Q969E8

    Gene LinkOut

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

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