Szt2 SZT2 subunit of KICSTOR complex [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Szt2provided by MGI
Official Full Name: SZT2 subunit of KICSTOR complexprovided by MGI
Primary source: MGI:MGI:3033336
See related: Ensembl:ENSMUSG00000033253 AllianceGenome:MGI:3033336
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: TIGR; 6430407N22
Summary: Involved in negative regulation of TORC1 signaling; regulation of superoxide dismutase activity; and response to nutrient levels. Acts upstream of or within central nervous system development; pigmentation; and post-embryonic development. Located in peroxisome. Is expressed in several structures, including central nervous system; heart; lung; metanephros; and spleen. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 18. Orthologous to human SZT2 (SZT2 subunit of KICSTOR complex). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thymus adult (RPKM 18.9), lung adult (RPKM 13.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.1; 4 54.61 cM

Exon count:: 72

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (118219937..118266483, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (118362740..118409286, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SZT2 maintains hematopoietic stem cell homeostasis via nutrient-mediated mTORC1 regulation.
Title: SZT2 maintains hematopoietic stem cell homeostasis via nutrient-mediated mTORC1 regulation.
SZT2 has a central role in dictating GATOR-dependent nutrient sensing by promoting lysosomal localization of SZT2-orchestrated GATOR complex, and reveal an unexpected function of lysosome-located GATOR2 in suppressing mTORC1 signalling through SESN recruitment
Title: SZT2 dictates GATOR control of mTORC1 signalling.
in mice that lack SZT2, mTORC1 signalling is increased in several tissues, including in neurons in the brain
Title: KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1.
While the biological function of Szt2 remains unknown, its high conservation, unique structure and effect on seizure threshold suggest that it serves an important role in the central nervous system.
Title: Szt2, a novel gene for seizure threshold in mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 1 citation
Targeted (2) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Szt2 (e-PCR), detects polymorphism
- UniSTS:527572

NoName (e-PCR)
- UniSTS:235003

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
involved_in cellular response to amino acid starvation	ISO Inferred from Sequence Orthology more info
involved_in cellular response to glucose starvation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in corpus callosum morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of TORC1 signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of TORC1 signaling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to lysosome	ISO Inferred from Sequence Orthology more info
involved_in regulation of superoxide dismutase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to nutrient levels	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of GATOR1 complex	ISO Inferred from Sequence Orthology more info
part_of GATOR2 complex	ISO Inferred from Sequence Orthology more info
part_of KICSTOR complex	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in peroxisome	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: KICSTOR complex protein SZT2

Names: Seizure threshold 2 protein; Transcript increased in glutamate resistance; seaizure threshold 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.