TSR2 (gene)

TSR2
Identifiers
Aliases	TSR2, DT1P1A10, WGG1, DBA14, ribosome maturation factor, TSR2 ribosome maturation factor
External IDs	OMIM: 300945; MGI: 1916749; HomoloGene: 43235; GeneCards: TSR2; OMA:TSR2 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.22 Start 54,440,404 bp[1] End 54,448,032 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X F3 Start 149,870,090 bp[2] End 149,879,539 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii internal globus pallidus C1 segment putamen amygdala optic nerve inferior olivary nucleus dorsal motor nucleus of vagus nerve nucleus accumbens pons Top expressed in dentate gyrus of hippocampal formation granule cell Region I of hippocampus proper primitive streak neural layer of retina arcuate nucleus suprachiasmatic nucleus substantia nigra paraventricular nucleus of hypothalamus ectoderm otic placode More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component nucleus Biological process maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) rRNA processing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 90121 69499 Ensembl ENSG00000158526 ENSMUSG00000025264 UniProt Q969E8 Q8C8T8 RefSeq (mRNA) NM_001346789NM_001346790NM_001346791NM_001346792NM_058163 NM_001164578NM_175146 RefSeq (protein) NP_001333718NP_001333719NP_001333720NP_001333721NP_477511 NP_001158050NP_780355 Location (UCSC) Chr X: 54.44 – 54.45 Mb Chr X: 149.87 – 149.88 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

TSR2 ribosome maturation factor is a protein that in humans is encoded by the TSR2 gene. ^[5]

Function

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].

References

1. GRCh38: Ensembl release 89: ENSG00000158526 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025264 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: TSR2 ribosome maturation factor". Retrieved 2020-04-12.

Further reading

• He H, Zhu D, Sun J, Pei R, Jia S (2011). "The novel protein TSR2 inhibits the transcriptional activity of nuclear factor-kappaB and induces apoptosis". Mol. Biol. (Mosk.). 45 (3): 496–502. doi:10.1134/S0026893311020099. PMID 21790011. S2CID 34475182.
• Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K (September 2014). "Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28". Am. J. Med. Genet. A. 164A (9): 2240–9. doi:10.1002/ajmg.a.36633. PMC 4149220. PMID 24942156.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.