Atlas of Genetics and Cytogenetics in Oncology and Haematology


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STXBP2 (syntaxin binding protein 2)

Identity

Alias_symbol (synonym)UNC18B
Hunc18b
Other aliasFHL5
MUNC18-2
UNC18-2
pp10122
HGNC (Hugo) STXBP2
LocusID (NCBI) 6813
Atlas_Id 56387
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 7637101 and ends at 7647874 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)
RADIL (7p22.1) / STXBP2 (19p13.2)STXBP2 (19p13.2) / ARHGEF1 (19q13.2)

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

 


External links

Nomenclature
HGNC (Hugo)STXBP2   11445
LRG (Locus Reference Genomic)LRG_165
Cards
Entrez_Gene (NCBI)STXBP2  6813  syntaxin binding protein 2
AliasesFHL5; Hunc18b; MUNC18-2; UNC18-2; 
UNC18B; pp10122
GeneCards (Weizmann)STXBP2
Ensembl hg19 (Hinxton)ENSG00000076944 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000076944 [Gene_View]  chr19:7637101-7647874 [Contig_View]  STXBP2 [Vega]
ICGC DataPortalENSG00000076944
TCGA cBioPortalSTXBP2
AceView (NCBI)STXBP2
Genatlas (Paris)STXBP2
WikiGenes6813
SOURCE (Princeton)STXBP2
Genetics Home Reference (NIH)STXBP2
Genomic and cartography
GoldenPath hg38 (UCSC)STXBP2  -     chr19:7637101-7647874 +  19p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)STXBP2  -     19p13.2   [Description]    (hg19-Feb_2009)
EnsemblSTXBP2 - 19p13.2 [CytoView hg19]  STXBP2 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBISTXBP2 [Mapview hg19]  STXBP2 [Mapview hg38]
OMIM601717   613101   
Gene and transcription
Genbank (Entrez)AB002559 AF318317 AI571535 AK098000 AK222967
RefSeq transcript (Entrez)NM_001127396 NM_001272034 NM_006949
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)STXBP2
Cluster EST : UnigeneHs.515104 [ NCBI ]
CGAP (NCI)Hs.515104
Alternative Splicing GalleryENSG00000076944
Gene ExpressionSTXBP2 [ NCBI-GEO ]   STXBP2 [ EBI - ARRAY_EXPRESS ]   STXBP2 [ SEEK ]   STXBP2 [ MEM ]
Gene Expression Viewer (FireBrowse)STXBP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6813
GTEX Portal (Tissue expression)STXBP2
Human Protein AtlasENSG00000076944-STXBP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15833   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15833  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15833
Splice isoforms : SwissVarQ15833
PhosPhoSitePlusQ15833
Domains : Interpro (EBI)Sec-1-like_dom2    Sec1-like   
Domain families : Pfam (Sanger)Sec1 (PF00995)   
Domain families : Pfam (NCBI)pfam00995   
Conserved Domain (NCBI)STXBP2
DMDM Disease mutations6813
Blocks (Seattle)STXBP2
PDB (SRS)4CCA   
PDB (PDBSum)4CCA   
PDB (IMB)4CCA   
PDB (RSDB)4CCA   
Structural Biology KnowledgeBase4CCA   
SCOP (Structural Classification of Proteins)4CCA   
CATH (Classification of proteins structures)4CCA   
SuperfamilyQ15833
Human Protein Atlas [tissue]ENSG00000076944-STXBP2 [tissue]
Peptide AtlasQ15833
HPRD03423
IPIIPI00943192   IPI00642310   IPI00019971   IPI01012581   IPI00103878   
Protein Interaction databases
DIP (DOE-UCLA)Q15833
IntAct (EBI)Q15833
FunCoupENSG00000076944
BioGRIDSTXBP2
STRING (EMBL)STXBP2
ZODIACSTXBP2
Ontologies - Pathways
QuickGOQ15833
Ontology : AmiGOleukocyte mediated cytotoxicity  platelet degranulation  protein binding  extracellular region  cytosol  cytosol  plasma membrane  vesicle docking involved in exocytosis  protein transport  apical plasma membrane  syntaxin-1 binding  syntaxin-3 binding  SNARE complex  specific granule  azurophil granule  zymogen granule membrane  regulation of mast cell degranulation  neutrophil degranulation  cytolytic granule  extracellular exosome  tertiary granule  
Ontology : EGO-EBIleukocyte mediated cytotoxicity  platelet degranulation  protein binding  extracellular region  cytosol  cytosol  plasma membrane  vesicle docking involved in exocytosis  protein transport  apical plasma membrane  syntaxin-1 binding  syntaxin-3 binding  SNARE complex  specific granule  azurophil granule  zymogen granule membrane  regulation of mast cell degranulation  neutrophil degranulation  cytolytic granule  extracellular exosome  tertiary granule  
NDEx NetworkSTXBP2
Atlas of Cancer Signalling NetworkSTXBP2
Wikipedia pathwaysSTXBP2
Orthology - Evolution
OrthoDB6813
GeneTree (enSembl)ENSG00000076944
Phylogenetic Trees/Animal Genes : TreeFamSTXBP2
HOVERGENQ15833
HOGENOMQ15833
Homologs : HomoloGeneSTXBP2
Homology/Alignments : Family Browser (UCSC)STXBP2
Gene fusions - Rearrangements
Tumor Fusion PortalSTXBP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSTXBP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)STXBP2
dbVarSTXBP2
ClinVarSTXBP2
1000_GenomesSTXBP2 
Exome Variant ServerSTXBP2
ExAC (Exome Aggregation Consortium)ENSG00000076944
GNOMAD BrowserENSG00000076944
Genetic variants : HAPMAP6813
Genomic Variants (DGV)STXBP2 [DGVbeta]
DECIPHERSTXBP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSTXBP2 
Mutations
ICGC Data PortalSTXBP2 
TCGA Data PortalSTXBP2 
Broad Tumor PortalSTXBP2
OASIS PortalSTXBP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSTXBP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSTXBP2
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch STXBP2
DgiDB (Drug Gene Interaction Database)STXBP2
DoCM (Curated mutations)STXBP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)STXBP2 (select a term)
intoGenSTXBP2
Cancer3DSTXBP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601717    613101   
Orphanet282   
DisGeNETSTXBP2
MedgenSTXBP2
Genetic Testing Registry STXBP2
NextProtQ15833 [Medical]
TSGene6813
GENETestsSTXBP2
Target ValidationSTXBP2
Huge Navigator STXBP2 [HugePedia]
snp3D : Map Gene to Disease6813
BioCentury BCIQSTXBP2
ClinGenSTXBP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6813
Chemical/Pharm GKB GenePA36242
Clinical trialSTXBP2
Miscellaneous
canSAR (ICR)STXBP2 (select the gene name)
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSTXBP2
EVEXSTXBP2
GoPubMedSTXBP2
iHOPSTXBP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:37:10 CET 2017

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