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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
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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
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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

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