SZT2

Seizure threshold 2 homolog is a protein that in humans is encoded by the SZT2 gene.[5]

SZT2
Identifiers
Aliases	SZT2, C1orf84, EIEE18, KIAA0467, SZT2A, SZT2B, seizure threshold 2 homolog (mouse), KICSTOR complex subunit, SZT2 subunit KICSTOR complex, SZT2 subunit of KICSTOR complex
External IDs	OMIM: 615463 MGI: 3033336 HomoloGene: 49413 GeneCards: SZT2
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.2 Start 43,389,882 bp[1] End 43,454,247 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D2.1 Start 118,362,743 bp[2] End 118,409,273 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding • molecular function Cellular component • GATOR2 complex • KICSTOR complex • GATOR1 complex • peroxisome • lysosome • lysosomal membrane • membrane Biological process • pigmentation • corpus callosum morphogenesis • central nervous system development • regulation of superoxide dismutase activity • post-embryonic development • cellular response to glucose starvation • protein localization to lysosome • negative regulation of TORC1 signaling • response to nutrient levels • cellular response to amino acid starvation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23334	230676
Ensembl	ENSG00000198198	ENSMUSG00000033253
UniProt	Q5T011	A2A9C3
RefSeq (mRNA)	NM_001012960 NM_001012961 NM_015284 NM_182518 NM_001365999	NM_198170
RefSeq (protein)	NP_056099 NP_001352928	NP_937813
Location (UCSC)	Chr 1: 43.39 – 43.45 Mb	Chr 4: 118.36 – 118.41 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis.[5]

Clinical significance

Mutations in this gene have been shown to cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000198198 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000033253 - 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.
5. "Entrez Gene: Seizure threshold 2 homolog (mouse)".
6. Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Nürnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G (Sep 2013). "Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum". American Journal of Human Genetics. 93 (3): 524–9. doi:10.1016/j.ajhg.2013.07.005. PMC 3769928. PMID 23932106.

Further reading

• Xie H, Diber A, Pollock S, Nemzer S, Safer H, Meloon B, Olson A, Hwang JJ, Endress GA, Savitsky K, Gill-More R (Apr 2004). "Bridging expressed sequence alignments through targeted cDNA sequencing". Genomics. 83 (4): 572–6. doi:10.1016/j.ygeno.2003.07.003. PMID 15028280.
• Chen L, Madura K (Jun 2006). "Evidence for distinct functions for human DNA repair factors hHR23A and hHR23B". FEBS Letters. 580 (14): 3401–8. doi:10.1016/j.febslet.2006.05.012. PMID 16712842.
• Seki N, Ohira M, Nagase T, Ishikawa K, Miyajima N, Nakajima D, Nomura N, Ohara O (Oct 1997). "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain". DNA Research. 4 (5): 345–9. doi:10.1093/dnares/4.5.345. PMID 9455484.

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