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; 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_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: 149.87 – 149.88 Mb PubMed search [3] [4]
Wikidata
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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].