TSR2 (gene)
TSR2 | |||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||
Aliases | TSR2, DT1P1A10, WGG1, DBA14, ribosome maturation factor, TSR2 ribosome maturation factor | ||||||||||||||||||||||||
External IDs | OMIM: 300945 MGI: 1916749 HomoloGene: 43235 GeneCards: TSR2 | ||||||||||||||||||||||||
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Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
Ensembl | |||||||||||||||||||||||||
UniProt | |||||||||||||||||||||||||
RefSeq (mRNA) | |||||||||||||||||||||||||
RefSeq (protein) | |||||||||||||||||||||||||
Location (UCSC) | Chr X: 54.44 – 54.45 Mb | Chr X: 151.09 – 151.1 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
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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[]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000158526 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025264 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "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.
Categories:
- Genes on human chromosome X
- Human chromosome X gene stubs