SZT2

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
Gene location (Human)
Chr.	Chromosome 1 (human)
End	43,454,247 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	118,266,470 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; anterior pituitary; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; bone marrow cells; ; gastric mucosa; ; Achilles tendon; ; left uterine tube; ; transverse colon; ; right uterine tube;
	Top expressed in
	Paneth cell; ; fossa; ; internal carotid artery; ; hand; ; substantia nigra; ; condyle; ; external carotid artery; ; vas deferens; ; cervix; ; right lung lobe;
	More reference expression data
	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
	23334
	230676
	ENSG00000198198
	ENSMUSG00000033253
	Q5T011
	A2A9C3
	NM_001012960; NM_001012961; NM_015284; NM_182518; NM_001365999
	NM_198170
	NP_056099; NP_001352928
	NP_937813
	Wikidata
View/Edit Human	View/Edit Mouse

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

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 2 3 GRCh38: Ensembl release 89: ENSG00000198198 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000033253 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: Seizure threshold 2 homolog (mouse)".
↑ 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.

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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000198198 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "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.

[1]

[2]

[3]

[4]

[5]

[6]

Function

Clinical significance

References

Further reading