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

Gene ID: 230676, updated on 10-Mar-2023

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
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Genomic context

See Szt2 in Genome Data Viewer
Location:
4; 4 D2.1
Exon count:
72
Annotation release Status Assembly Chr Location
109 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_000070.7Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase, receptor type, F Neighboring gene predicted gene, 40235 Neighboring gene predicted gene, 52705 Neighboring gene hydroxypyruvate isomerase (putative) Neighboring gene mediator complex subunit 8 Neighboring gene elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1 Neighboring gene cell division cycle 20

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC69654

Gene Ontology Provided by MGI

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
PubMed 
located_in peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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.

mRNA and Protein(s)

  1. NM_198170.4NP_937813.3  KICSTOR complex protein SZT2

    See identical proteins and their annotated locations for NP_937813.3

    Status: REVIEWED

    Source sequence(s)
    CJ191816, FJ998170
    Consensus CDS
    CCDS51283.1
    UniProtKB/Swiss-Prot
    A2A9C3, Q7TSS6
    Related
    ENSMUSP00000074862.6, ENSMUST00000075406.12

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    118219937..118266483 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036164036.1XP_036019929.1  KICSTOR complex protein SZT2 isoform X1

RNA

  1. XR_867847.3 RNA Sequence

  2. XR_003954918.2 RNA Sequence