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)
End	54,448,032 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	149,879,539 bp
RNA expression pattern
	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
	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
	90121
	69499
	ENSG00000158526
	ENSMUSG00000025264
	Q969E8
	Q8C8T8
	NM_001346789; NM_001346790; NM_001346791; NM_001346792; NM_058163
	NM_001164578; NM_175146
	NP_001333718; NP_001333719; NP_001333720; NP_001333721; NP_477511
	NP_001158050; NP_780355
	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

^ ^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.

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 on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000158526 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: TSR2 ribosome maturation factor". Retrieved 2020-04-12.

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Function

References

Further reading