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SZT2 - SZT2 subunit of KICSTOR complex Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23334

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	SZT2	NCBI