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FLASH GENE

Symbol

TSR2

contributors: mct - updated : 02-01-2023

HGNC name	TSR2 ribosome maturation factor
HGNC id	25455

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DBA14 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Location	Xp11.22      Physical location : 54.466.852 - 54.471.728
Synonym name	TSR2, 20S rRNA accumulation, homolog
	WGG motif containing 1
	escortin
Synonym symbol(s)	WGG1, DBA14, DT1P1A10, MGC20451

DNA

TYPE	functioning gene
STRUCTURE	7.63 kb     5 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001346791 5 - 4187 NP_001333720 - 96 - 2018 30201955 NM_001346790 5 - 4178 NP_001333719 - 96 - 2018 30201955 NM_058163 5 - 4076 NP_477511 - 191 - 2018 30201955 NM_001346789 5 - 4067 NP_001333718 - 188 - 2018 30201955 NM_001346792 4 - 3985 NP_001333721 - 96 - 2018 30201955

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a WGG motif

HOMOLOGY

Homologene

FAMILY

CATEGORY

chaperone/stress , regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	TSR2 is likely involved in the NF-kappaB signaling pathway and may regulate apoptosis
	TSR2 promotes RPS26 dissociation and stores the released protein for reincorporation
	importance of TSR2 in adjusting the proper ratio of RPS26-containing and deficient ribosomes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	TSR2 releases RPS26 in the presence of high Na+ or pH in vitro and is required for RPS26 release in vivo
	TSR2 is a chaperone for RPS26, which stabilizes the protein outside of the ribosome

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DBA14

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in laryngeal squamous cell carcinoma (LSCC)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer head and neck   TSR2-induced apoptosis was mediated by inhibiting the NFKB1 signaling pathway, which may provide an effective target in gene therapy for LSCC

ANIMAL & CELL MODELS