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