Atlas of Genetics and Cytogenetics in Oncology and Haematology

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STXBP3 (syntaxin binding protein 3)

Identity

Alias_symbol (synonym)UNC-18C
Other aliasMUNC18-3
MUNC18C
PSP
HGNC (Hugo) STXBP3
LocusID (NCBI) 6814
Atlas_Id 56092
Location 1p13.3  [Link to chromosome band 1p13]
Location_base_pair Starts at 108746635 and ends at 108809526 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)
STXBP3 (1p13.3) / MBD2 (18q21.2)

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)STXBP3   11446
Cards
Entrez_Gene (NCBI)STXBP3  6814  syntaxin binding protein 3
AliasesMUNC18-3; MUNC18C; PSP; UNC-18C
GeneCards (Weizmann)STXBP3
Ensembl hg19 (Hinxton)ENSG00000116266 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116266 [Gene_View]  ENSG00000116266 [Sequence]  chr1:108746635-108809526 [Contig_View]  STXBP3 [Vega]
ICGC DataPortalENSG00000116266
TCGA cBioPortalSTXBP3
AceView (NCBI)STXBP3
Genatlas (Paris)STXBP3
WikiGenes6814
SOURCE (Princeton)STXBP3
Genetics Home Reference (NIH)STXBP3
Genomic and cartography
GoldenPath hg38 (UCSC)STXBP3  -     chr1:108746635-108809526 +  1p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)STXBP3  -     1p13.3   [Description]    (hg19-Feb_2009)
GoldenPathSTXBP3 - 1p13.3 [CytoView hg19]  STXBP3 - 1p13.3 [CytoView hg38]
ImmunoBaseENSG00000116266
Mapping of homologs : NCBISTXBP3 [Mapview hg19]  STXBP3 [Mapview hg38]
OMIM608339   
Gene and transcription
Genbank (Entrez)AF032922 AK223170 AK290134 AK291322 AK312910
RefSeq transcript (Entrez)NM_007269
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)STXBP3
Cluster EST : UnigeneHs.530436 [ NCBI ]
CGAP (NCI)Hs.530436
Alternative Splicing GalleryENSG00000116266
Gene ExpressionSTXBP3 [ NCBI-GEO ]   STXBP3 [ EBI - ARRAY_EXPRESS ]   STXBP3 [ SEEK ]   STXBP3 [ MEM ]
Gene Expression Viewer (FireBrowse)STXBP3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6814
GTEX Portal (Tissue expression)STXBP3
Human Protein AtlasENSG00000116266-STXBP3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00186   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00186  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00186
Splice isoforms : SwissVarO00186
PhosPhoSitePlusO00186
Domains : Interpro (EBI)Sec-1-like_dom2    Sec1-like    Sec1-like_sf   
Domain families : Pfam (Sanger)Sec1 (PF00995)   
Domain families : Pfam (NCBI)pfam00995   
Conserved Domain (NCBI)STXBP3
DMDM Disease mutations6814
Blocks (Seattle)STXBP3
SuperfamilyO00186
Human Protein Atlas [tissue]ENSG00000116266-STXBP3 [tissue]
Peptide AtlasO00186
HPRD10517
IPIIPI00297626   
Protein Interaction databases
DIP (DOE-UCLA)O00186
IntAct (EBI)O00186
FunCoupENSG00000116266
BioGRIDSTXBP3
STRING (EMBL)STXBP3
ZODIACSTXBP3
Ontologies - Pathways
QuickGOO00186
Ontology : AmiGOcellular glucose homeostasis  protein binding  cytosol  cytosol  plasma membrane  vesicle docking involved in exocytosis  brain development  basolateral plasma membrane  apical plasma membrane  syntaxin-1 binding  syntaxin binding  protein to membrane docking  insulin secretion  platelet alpha granule  response to insulin  specific granule  neutrophil degranulation  phagocytic vesicle  negative regulation of calcium ion-dependent exocytosis  negative regulation of glucose import  protein heterooligomerization  extracellular exosome  platelet aggregation  tertiary granule  cellular response to interferon-gamma  presynapse  presynapse  
Ontology : EGO-EBIcellular glucose homeostasis  protein binding  cytosol  cytosol  plasma membrane  vesicle docking involved in exocytosis  brain development  basolateral plasma membrane  apical plasma membrane  syntaxin-1 binding  syntaxin binding  protein to membrane docking  insulin secretion  platelet alpha granule  response to insulin  specific granule  neutrophil degranulation  phagocytic vesicle  negative regulation of calcium ion-dependent exocytosis  negative regulation of glucose import  protein heterooligomerization  extracellular exosome  platelet aggregation  tertiary granule  cellular response to interferon-gamma  presynapse  presynapse  
NDEx NetworkSTXBP3
Atlas of Cancer Signalling NetworkSTXBP3
Wikipedia pathwaysSTXBP3
Orthology - Evolution
OrthoDB6814
GeneTree (enSembl)ENSG00000116266
Phylogenetic Trees/Animal Genes : TreeFamSTXBP3
HOGENOMO00186
Homologs : HomoloGeneSTXBP3
Homology/Alignments : Family Browser (UCSC)STXBP3
Gene fusions - Rearrangements
Fusion : QuiverSTXBP3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSTXBP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)STXBP3
dbVarSTXBP3
ClinVarSTXBP3
1000_GenomesSTXBP3 
Exome Variant ServerSTXBP3
ExAC (Exome Aggregation Consortium)ENSG00000116266
GNOMAD BrowserENSG00000116266
Varsome BrowserSTXBP3
Genetic variants : HAPMAP6814
Genomic Variants (DGV)STXBP3 [DGVbeta]
DECIPHERSTXBP3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSTXBP3 
Mutations
ICGC Data PortalSTXBP3 
TCGA Data PortalSTXBP3 
Broad Tumor PortalSTXBP3
OASIS PortalSTXBP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSTXBP3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSTXBP3
Mutations and Diseases : HGMDSTXBP3
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 STXBP3
DgiDB (Drug Gene Interaction Database)STXBP3
DoCM (Curated mutations)STXBP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)STXBP3 (select a term)
intoGenSTXBP3
Cancer3DSTXBP3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608339   
Orphanet
DisGeNETSTXBP3
MedgenSTXBP3
Genetic Testing Registry STXBP3
NextProtO00186 [Medical]
TSGene6814
GENETestsSTXBP3
Target ValidationSTXBP3
Huge Navigator STXBP3 [HugePedia]
snp3D : Map Gene to Disease6814
BioCentury BCIQSTXBP3
ClinGenSTXBP3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6814
Chemical/Pharm GKB GenePA36243
Clinical trialSTXBP3
Miscellaneous
canSAR (ICR)STXBP3 (select the gene name)
DataMed IndexSTXBP3
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSTXBP3
EVEXSTXBP3
GoPubMedSTXBP3
iHOPSTXBP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 18:10:17 CET 2019
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