SZT2

Protein-coding gene in the species Homo sapiens
SZT2
Identifiers
AliasesSZT2, 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 IDsOMIM: 615463; MGI: 3033336; HomoloGene: 49413; GeneCards: SZT2; OMA:SZT2 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for SZT2
Genomic location for SZT2
Band1p34.2Start43,389,882 bp[1]
End43,454,247 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for SZT2
Genomic location for SZT2
Band4|4 D2.1Start118,219,940 bp[2]
End118,266,470 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 4: 118.22 – 118.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000198198 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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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