TSR2 (gene)

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

TSR2
Identifiers
Aliases	TSR2, DT1P1A10, WGG1, DBA14, ribosome maturation factor, TSR2 ribosome maturation factor
External IDs	OMIM: 300945 MGI: 1916749 HomoloGene: 43235 GeneCards: TSR2
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 151,087,094 bp[2] End 151,096,543 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • cell 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_001346789 NM_001346790 NM_001346791 NM_001346792 NM_058163	NM_001164578 NM_175146
RefSeq (protein)	NP_001333718 NP_001333719 NP_001333720 NP_001333721 NP_477511	NP_001158050 NP_780355
Location (UCSC)	Chr X: 54.44 – 54.45 Mb	Chr X: 151.09 – 151.1 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. PMID 21790011.
• 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.