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

Gene ID: 90121, updated on 1-Jul-2024

Summary

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

See TSR2 in Genome Data Viewer
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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001346789.2NP_001333718.1  pre-rRNA-processing protein TSR2 homolog isoform b

    Status: REVIEWED

    Source sequence(s)
    Z85987
  2. NM_001346790.2NP_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_001346791.2NP_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_001346792.2NP_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_058163.3NP_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:1290
    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)