SZT2 - SZT2 subunit of KICSTOR complex Gene

Homo sapiens

Also known as DEE18; KICS1; SZT2A; SZT2B; EIEE18; C1orf84; KIAA0467

Gene ID: 23334 | Gene type: protein coding

About SZT2

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:43,389,899-43,454,247 (from NCBI)

This gene has 19 transcripts (splice variants), 222 orthologues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 6.6), testis (RPKM 6.5) and 25 other tissues.

Summary

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. [provided by RefSeq, Jun 2011]

SZT2 Products(2)

mRNA	Protein	Name
NM_001365999.1	NP_001352928.1	KICSTOR complex protein SZT2 isoform 1
NM_015284.4	NP_056099.3	KICSTOR complex protein SZT2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to amino acid starvation	IMP IMP: Inferred from mutant phenotype	28199306	GOA
involved in cellular response to glucose starvation	IMP IMP: Inferred from mutant phenotype	28199306	GOA
involved in corpus callosum morphogenesis	IMP IMP: Inferred from mutant phenotype	23932106	GOA
involved in negative regulation of TORC1 signaling	IMP IMP: Inferred from mutant phenotype	28199306	GOA
involved in protein localization to lysosome	IMP IMP: Inferred from mutant phenotype	28199306	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of GATOR1 complex	IDA IDA: Inferred from direct assay	28199306	GOA
part of GATOR2 complex	IDA IDA: Inferred from direct assay	28199306	GOA
part of KICSTOR complex	IDA IDA: Inferred from direct assay	28199306	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	28199315	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

KICSTOR complex protein SZT2

SZT2 subunit KICSTOR complex

SZT2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SZT2	Q5T011	NPRL3	Homo sapiens	Q12980	Anti Tag CoIP	28199315
Intra	SZT2	Q5T011	WDR24	Homo sapiens	Q96S15	Anti Tag CoIP	28199315

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 18

DEE18	Epileptic Encephalopathy, Early Infantile, 18
Early Infantile Epileptic Encephalopathy 18	Developmental And Epileptic Encephalopathy, 18
Eiee1	Eiee18
Encephalopathy, Epileptic, Early Infantile, Type 18

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy	Non-Specific Eoee
Undetermined Eoee

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Epilepsy, Idiopathic Generalized 14

EIG14	Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Idiopathic Generalized Epilepsy 14	{Epilepsy, Idiopathic Generalized, Susceptibility To, 14}

Developmental And Epileptic Encephalopathy 27

DEE27	Epileptic Encephalopathy, Early Infantile, 27
Eiee27	Developmental And Epileptic Encephalopathy, 27
Early Infantile Epileptic Encephalopathy 27	Encephalopathy, Developmental And Epileptic, Type 27

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

BBSOAS

Optic Atrophy-Intellectual Disability Syndrome

Cardiomyopathy, Dilated, 1hh

Dilated Cardiomyopathy 1hh	CMD1HH
Cardiomyopathy, Dilated 1hh	Cardiomyopathy, Dilated, Type 1hh

Ayme-Gripp Syndrome

AYGRP	Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation
Aymé-Gripp Syndrome	Fine-Lubinsky Syndrome
Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome	Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome

Developmental And Epileptic Encephalopathy 13

Epileptic Encephalopathy, Early Infantile, 13	DEE13
Eiee13	Developmental And Epileptic Encephalopathy, 13
Early Infantile Epileptic Encephalopathy 13	Scn8a Encephalopathy
Early Infantile Epileptic Encephalopathy-13	Scn8a Epilepsy
Encephalopathy, Developmental And Epileptic, Type 13

Epilepsy, Familial Temporal Lobe, 3

Epilepsy, Familial Mesial Temporal Lobe	Fmtle
Familial Temporal Lobe Epilepsy 3	ETL3
Familial Mesial Temporal Lobe Epilepsy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14129	SZT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SZT2	MGD	MGI:3033336
Bos taurus	SZT2	VGNC	VGNC:35551
Rattus norvegicus	SZT2	RGD	RGD:1308616
Canis familiaris	SZT2	VGNC	VGNC:47057
Macaca mulatta	SZT2	VGNC	VGNC:78232
Felis catus	SZT2	VGNC	VGNC:65911

Name
Email *

	Sorry, but the email address you supplied was invalid.