Atlas of Genetics and Cytogenetics in Oncology and Haematology


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STX2 (syntaxin 2)

Identity

Alias_namesSTX2B
STX2C
STX2A
EPIM
epimorphin
Alias_symbol (synonym)EPM
Other alias
HGNC (Hugo) STX2
LocusID (NCBI) 2054
Atlas_Id 45908
Location 12q24.33  [Link to chromosome band 12q24]
Location_base_pair Starts at 130789601 and ends at 130839274 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FBRSL1 (12q24.33) / STX2 (12q24.33)

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

 


External links

Nomenclature
HGNC (Hugo)STX2   3403
Cards
Entrez_Gene (NCBI)STX2  2054  syntaxin 2
AliasesEPIM; EPM; STX2A; STX2B; 
STX2C
GeneCards (Weizmann)STX2
Ensembl hg19 (Hinxton)ENSG00000111450 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111450 [Gene_View]  chr12:130789601-130839274 [Contig_View]  STX2 [Vega]
ICGC DataPortalENSG00000111450
TCGA cBioPortalSTX2
AceView (NCBI)STX2
Genatlas (Paris)STX2
WikiGenes2054
SOURCE (Princeton)STX2
Genetics Home Reference (NIH)STX2
Genomic and cartography
GoldenPath hg38 (UCSC)STX2  -     chr12:130789601-130839274 -  12q24.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)STX2  -     12q24.33   [Description]    (hg19-Feb_2009)
EnsemblSTX2 - 12q24.33 [CytoView hg19]  STX2 - 12q24.33 [CytoView hg38]
Mapping of homologs : NCBISTX2 [Mapview hg19]  STX2 [Mapview hg38]
OMIM132350   
Gene and transcription
Genbank (Entrez)AF052181 BC047496 CD300217 CN418753 D14582
RefSeq transcript (Entrez)NM_001351049 NM_001351050 NM_001351051 NM_001351052 NM_001980 NM_194356
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)STX2
Cluster EST : UnigeneHs.437585 [ NCBI ]
CGAP (NCI)Hs.437585
Alternative Splicing GalleryENSG00000111450
Gene ExpressionSTX2 [ NCBI-GEO ]   STX2 [ EBI - ARRAY_EXPRESS ]   STX2 [ SEEK ]   STX2 [ MEM ]
Gene Expression Viewer (FireBrowse)STX2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2054
GTEX Portal (Tissue expression)STX2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP32856   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP32856  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP32856
Splice isoforms : SwissVarP32856
PhosPhoSitePlusP32856
Domaine pattern : Prosite (Expaxy)SYNTAXIN (PS00914)    T_SNARE (PS50192)   
Domains : Interpro (EBI)SNARE    STX2    Syntaxin/epimorphin_CS    Syntaxin_N    T_SNARE_dom   
Domain families : Pfam (Sanger)SNARE (PF05739)    Syntaxin (PF00804)   
Domain families : Pfam (NCBI)pfam05739    pfam00804   
Domain families : Smart (EMBL)SynN (SM00503)  t_SNARE (SM00397)  
Conserved Domain (NCBI)STX2
DMDM Disease mutations2054
Blocks (Seattle)STX2
SuperfamilyP32856
Human Protein AtlasENSG00000111450
Peptide AtlasP32856
HPRD11816
IPIIPI00336034   IPI00221209   IPI00221210   IPI01010349   
Protein Interaction databases
DIP (DOE-UCLA)P32856
IntAct (EBI)P32856
FunCoupENSG00000111450
BioGRIDSTX2
STRING (EMBL)STX2
ZODIACSTX2
Ontologies - Pathways
QuickGOP32856
Ontology : AmiGOSNARE binding  SNAP receptor activity  protein binding  extracellular space  plasma membrane  intracellular protein transport  signal transduction  acrosome reaction  ectoderm development  synaptic vesicle  animal organ morphogenesis  integral component of membrane  basolateral plasma membrane  lamellipodium  cell differentiation  regulation of blood coagulation  SNARE complex  synaptic vesicle fusion to presynaptic active zone membrane  response to hydroperoxide  intracellular membrane-bounded organelle  protein dimerization activity  vesicle docking  calcium-dependent protein binding  protein oligomerization  extracellular exosome  cornified envelope assembly  
Ontology : EGO-EBISNARE binding  SNAP receptor activity  protein binding  extracellular space  plasma membrane  intracellular protein transport  signal transduction  acrosome reaction  ectoderm development  synaptic vesicle  animal organ morphogenesis  integral component of membrane  basolateral plasma membrane  lamellipodium  cell differentiation  regulation of blood coagulation  SNARE complex  synaptic vesicle fusion to presynaptic active zone membrane  response to hydroperoxide  intracellular membrane-bounded organelle  protein dimerization activity  vesicle docking  calcium-dependent protein binding  protein oligomerization  extracellular exosome  cornified envelope assembly  
Pathways : KEGGSNARE interactions in vesicular transport    Synaptic vesicle cycle   
NDEx NetworkSTX2
Atlas of Cancer Signalling NetworkSTX2
Wikipedia pathwaysSTX2
Orthology - Evolution
OrthoDB2054
GeneTree (enSembl)ENSG00000111450
Phylogenetic Trees/Animal Genes : TreeFamSTX2
HOVERGENP32856
HOGENOMP32856
Homologs : HomoloGeneSTX2
Homology/Alignments : Family Browser (UCSC)STX2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSTX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)STX2
dbVarSTX2
ClinVarSTX2
1000_GenomesSTX2 
Exome Variant ServerSTX2
ExAC (Exome Aggregation Consortium)STX2 (select the gene name)
Genetic variants : HAPMAP2054
Genomic Variants (DGV)STX2 [DGVbeta]
DECIPHERSTX2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSTX2 
Mutations
ICGC Data PortalSTX2 
TCGA Data PortalSTX2 
Broad Tumor PortalSTX2
OASIS PortalSTX2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSTX2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSTX2
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
BioMutasearch STX2
DgiDB (Drug Gene Interaction Database)STX2
DoCM (Curated mutations)STX2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)STX2 (select a term)
intoGenSTX2
Cancer3DSTX2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM132350   
Orphanet
MedgenSTX2
Genetic Testing Registry STX2
NextProtP32856 [Medical]
TSGene2054
GENETestsSTX2
Target ValidationSTX2
Huge Navigator STX2 [HugePedia]
snp3D : Map Gene to Disease2054
BioCentury BCIQSTX2
ClinGenSTX2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2054
Chemical/Pharm GKB GenePA27831
Clinical trialSTX2
Miscellaneous
canSAR (ICR)STX2 (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSTX2
EVEXSTX2
GoPubMedSTX2
iHOPSTX2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:58:03 CEST 2017

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