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SZT2 (SZT2 subunit of KICSTOR complex)

Identity

Alias (NCBI)C1orf84
EIEE18
KIAA0467
SZT2A
SZT2B
HGNC (Hugo) SZT2
HGNC Alias symbFLJ10387
SZT2B
RP11-506B15.1
FLJ34502
SZT2A
HGNC Alias nameseizure threshold 2 homolog A (mouse)
 seizure threshold 2 homolog B (mouse)
HGNC Previous nameC1orf84
 KIAA0467
HGNC Previous namechromosome 1 open reading frame 84
 KIAA0467
LocusID (NCBI) 23334
Atlas_Id 74446
Location 1p34.2  [Link to chromosome band 1p34]
Location_base_pair Starts at 43389885 and ends at 43454247 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CCNB1IP1 (14q11.2) / SZT2 (1p34.2)JA040725 () / SZT2 (1p34.2)SZT2 (1p34.2) / ATP5L (11q23.3)
SZT2 (1p34.2) / EIF2B3 (1p34.1)SZT2 (1p34.2) / PLAGL1 (6q24.2)SZT2 (1p34.2) / RRAGC (1p34.3)
SZT2 (1p34.2) / SZT2 (1p34.2)TUT1 (11q12.3) / SZT2 (1p34.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  SZT2/EIF2B3 (1p34)


External links

Nomenclature
HGNC (Hugo)SZT2   29040
Cards
Entrez_Gene (NCBI)SZT2  23334  SZT2 subunit of KICSTOR complex
AliasesC1orf84; EIEE18; KIAA0467; SZT2A; 
SZT2B
GeneCards (Weizmann)SZT2
Ensembl hg19 (Hinxton)ENSG00000198198 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198198 [Gene_View]  ENSG00000198198 [Sequence]  chr1:43389885-43454247 [Contig_View]  SZT2 [Vega]
ICGC DataPortalENSG00000198198
TCGA cBioPortalSZT2
AceView (NCBI)SZT2
Genatlas (Paris)SZT2
WikiGenes23334
SOURCE (Princeton)SZT2
Genetics Home Reference (NIH)SZT2
Genomic and cartography
GoldenPath hg38 (UCSC)SZT2  -     chr1:43389885-43454247 +  1p34.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SZT2  -     1p34.2   [Description]    (hg19-Feb_2009)
GoldenPathSZT2 - 1p34.2 [CytoView hg19]  SZT2 - 1p34.2 [CytoView hg38]
ImmunoBaseENSG00000198198
genome Data Viewer NCBISZT2 [Mapview hg19]  
OMIM615463   615476   
Gene and transcription
Genbank (Entrez)AB007936 AK001249 AK027078 AK091821 AK097620
RefSeq transcript (Entrez)NM_001012960 NM_001012961 NM_001365999 NM_015284 NM_182518
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SZT2
Alternative Splicing GalleryENSG00000198198
Gene ExpressionSZT2 [ NCBI-GEO ]   SZT2 [ EBI - ARRAY_EXPRESS ]   SZT2 [ SEEK ]   SZT2 [ MEM ]
Gene Expression Viewer (FireBrowse)SZT2 [ Firebrowse - Broad ]
GenevisibleExpression of SZT2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23334
GTEX Portal (Tissue expression)SZT2
Human Protein AtlasENSG00000198198-SZT2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5T011   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5T011  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5T011
Splice isoforms : SwissVarQ5T011
PhosPhoSitePlusQ5T011
Domains : Interpro (EBI)SZT2   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)SZT2
DMDM Disease mutations23334
Blocks (Seattle)SZT2
SuperfamilyQ5T011
Human Protein Atlas [tissue]ENSG00000198198-SZT2 [tissue]
Peptide AtlasQ5T011
HPRD11085
IPIIPI00002221   IPI00896471   IPI00970827   IPI00168185   IPI00973277   
Protein Interaction databases
DIP (DOE-UCLA)Q5T011
IntAct (EBI)Q5T011
FunCoupENSG00000198198
BioGRIDSZT2
STRING (EMBL)SZT2
ZODIACSZT2
Ontologies - Pathways
QuickGOQ5T011
Ontology : AmiGOmolecular_function  protein binding  lysosomal membrane  peroxisome  peroxisome  central nervous system development  post-embryonic development  corpus callosum morphogenesis  cellular response to amino acid starvation  cellular response to glucose starvation  pigmentation  protein localization to lysosome  GATOR2 complex  KICSTOR complex  regulation of superoxide dismutase activity  negative regulation of TORC1 signaling  GATOR1 complex  
Ontology : EGO-EBImolecular_function  protein binding  lysosomal membrane  peroxisome  peroxisome  central nervous system development  post-embryonic development  corpus callosum morphogenesis  cellular response to amino acid starvation  cellular response to glucose starvation  pigmentation  protein localization to lysosome  GATOR2 complex  KICSTOR complex  regulation of superoxide dismutase activity  negative regulation of TORC1 signaling  GATOR1 complex  
NDEx NetworkSZT2
Atlas of Cancer Signalling NetworkSZT2
Wikipedia pathwaysSZT2
Orthology - Evolution
OrthoDB23334
GeneTree (enSembl)ENSG00000198198
Phylogenetic Trees/Animal Genes : TreeFamSZT2
HOGENOMQ5T011
Homologs : HomoloGeneSZT2
Homology/Alignments : Family Browser (UCSC)SZT2
Gene fusions - Rearrangements
Fusion : QuiverSZT2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSZT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SZT2
dbVarSZT2
ClinVarSZT2
1000_GenomesSZT2 
Exome Variant ServerSZT2
GNOMAD BrowserENSG00000198198
Varsome BrowserSZT2
Genetic variants : HAPMAP23334
Genomic Variants (DGV)SZT2 [DGVbeta]
DECIPHERSZT2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSZT2 
Mutations
ICGC Data PortalSZT2 
TCGA Data PortalSZT2 
Broad Tumor PortalSZT2
OASIS PortalSZT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSZT2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSZT2
Mutations and Diseases : HGMDSZT2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SZT2
DgiDB (Drug Gene Interaction Database)SZT2
DoCM (Curated mutations)SZT2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SZT2 (select a term)
intoGenSZT2
Cancer3DSZT2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615463    615476   
Orphanet22444   
DisGeNETSZT2
MedgenSZT2
Genetic Testing Registry SZT2
NextProtQ5T011 [Medical]
TSGene23334
GENETestsSZT2
Target ValidationSZT2
Huge Navigator SZT2 [HugePedia]
snp3D : Map Gene to Disease23334
BioCentury BCIQSZT2
ClinGenSZT2
Clinical trials, drugs, therapy
Protein Interactions : CTD23334
Pharm GKB GenePA142671628
Clinical trialSZT2
Miscellaneous
canSAR (ICR)SZT2 (select the gene name)
HarmonizomeSZT2
DataMed IndexSZT2
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSZT2
EVEXSZT2
GoPubMedSZT2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jul 16 16:31:50 CEST 2020

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