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] See more...

Aliases for TSR2 Gene

Aliases for TSR2 Gene

  • TSR2 Ribosome Maturation Factor 2 3 5
  • Pre-RRNA-Processing Protein TSR2 Homolog 3 4
  • WGG Motif Containing 1 2 3
  • Escortin 2 3
  • TSR2, 20S RRNA Accumulation, Homolog (S. Cerevisiae) 2
  • TSR2, 20S RRNA Accumulation, Homolog 3
  • TSR2, Ribosome Maturation Factor 2
  • DT1P1A10 3
  • DBA14 3
  • WGG1 3

External Ids for TSR2 Gene

Previous GeneCards Identifiers for TSR2 Gene

  • GC0XP051518

Summaries for TSR2 Gene

Entrez Gene Summary for TSR2 Gene

  • 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]

GeneCards Summary for TSR2 Gene

TSR2 (TSR2 Ribosome Maturation Factor) is a Protein Coding gene. Diseases associated with TSR2 include Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis and Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis.

UniProtKB/Swiss-Prot Summary for TSR2 Gene

Additional gene information for TSR2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TSR2 Gene

Genomics for TSR2 Gene

GeneHancer (GH) Regulatory Elements for TSR2 Gene

Promoters and enhancers for TSR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ054439 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.6 597 3.2 ZNF217 EP300 NRF1 TCF12 POLR2G USF1 ZFX ZNF639 REST POLR2A TSR2 WNK3 GNL3L PHF8 piR-46643
GH0XJ054177 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.7 -259.7 -259681 7 ZBTB40 NRF1 POLR2G USF1 JUND FOS ZFX ZIC2 POLR2A GABPA FAM120C TSR2 ENSG00000233250 lnc-TSR2-8 RF00017-8462
GH0XJ054481 Enhancer 0.9 ENCODE CraniofacialAtlas 16.7 +43.2 43153 3.6 NRF1 USF1 TEAD4 ZNF263 MXI1 CTCF SP2 ZFHX2 SMAD4 ZNF189 GNL3L TSR2 FGD1 piR-46643
GH0XJ055116 Enhancer 0.7 Ensembl 15.5 +676.0 675997 0.4 HES1 CTBP1 NCOR1 ZNF282 MNT NR2F1 TAL1 NCOA2 ZNF589 NCOA1 TSR2 piR-38756-042 ENSG00000278319
GH0XJ054474 Enhancer 0.4 ENCODE 12.4 +34.3 34262 0.9 CTCF FOS MYC FGD1 TSR2 GNL3L piR-46643
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TSR2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TSR2

Top Transcription factor binding sites by QIAGEN in the TSR2 gene promoter:
  • AML1a
  • Egr-2
  • FAC1
  • GATA-3
  • N-Myc
  • PPAR-gamma1
  • PPAR-gamma2
  • RREB-1
  • STAT5A

Genomic Locations for TSR2 Gene

Genomic Locations for TSR2 Gene
chrX:54,440,404-54,448,032
(GRCh38/hg38)
Size:
7,629 bases
Orientation:
Plus strand
chrX:54,466,834-54,471,920
(GRCh37/hg19)
Size:
5,087 bases
Orientation:
Plus strand

Genomic View for TSR2 Gene

Genes around TSR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSR2 Gene

Proteins for TSR2 Gene

  • Protein details for TSR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969E8-TSR2_HUMAN
    Recommended name:
    Pre-rRNA-processing protein TSR2 homolog
    Protein Accession:
    Q969E8

    Protein attributes for TSR2 Gene

    Size:
    191 amino acids
    Molecular mass:
    20894 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TSR2 Gene

Post-translational modifications for TSR2 Gene