SZT2

SZT2

Identifiers

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)^[1]

Band	1p34.2	Start	43,389,882 bp^[1]
Band	1p34.2	End	43,454,247 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 4 (mouse)^[2]

Band	4\|4 D2.1	Start	118,219,940 bp^[2]
Band	4\|4 D2.1	End	118,266,470 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

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

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

^[3]

^[4]

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000198198 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b "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.

From Wikipedia, the free encyclopedia

Function

Clinical significance

References

Further reading