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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, DEE18, KICS1
External IDs	OMIM: 615463; MGI: 3033336; HomoloGene: 49413; GeneCards: SZT2; OMA:SZT2 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p34.2 Start 43,389,882 bp End 43,454,247 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4|4 D2.1 Start 118,219,940 bp End 118,266,470 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in epithelium of colon sural nerve granulocyte apex of heart anterior pituitary right lobe of thyroid gland right testis left lobe of thyroid gland left testis right hemisphere of cerebellum Top expressed in Rostral migratory stream Paneth cell fossa internal carotid artery hand substantia nigra condyle external carotid artery vas deferens cervix More reference expression data BioGPS n/a
Gene ontology Molecular function 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: 118.22 – 118.27 Mb PubMed search
Wikidata
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Seizure threshold 2 homolog is a protein that in humans is encoded by the SZT2 gene.

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.

Clinical significance

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

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. S2CID 26793593.
• 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.

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