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STXBP4 (syntaxin binding protein 4)

Identity

Alias_symbol (synonym)Synip
MGC50337
Other alias
HGNC (Hugo) STXBP4
LocusID (NCBI) 252983
Atlas_Id 53286
Location 17q22  [Link to chromosome band 17q22]
Location_base_pair Starts at 54968765 and ends at 55164088 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AC103810.1 () / STXBP4 (17q22)MED1 (17q12) / STXBP4 (17q22)PTRH2 (17q23.1) / STXBP4 (17q22)
RPTOR (17q25.3) / STXBP4 (17q22)STXBP4 (17q22) / MSI2 (17q22)STXBP4 (17q22) / PPM1D (17q23.2)
AC103810.1 STXBP4 17q22PTRH2 17q23.1 / STXBP4 17q22RPTOR 17q25.3 / STXBP4 17q22
STXBP4 17q22 / MSI2 17q22STXBP4 17q22 / PPM1D 17q23.2

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)STXBP4   19694
Cards
Entrez_Gene (NCBI)STXBP4  252983  syntaxin binding protein 4
AliasesSynip
GeneCards (Weizmann)STXBP4
Ensembl hg19 (Hinxton)ENSG00000166263 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166263 [Gene_View]  chr17:54968765-55164088 [Contig_View]  STXBP4 [Vega]
ICGC DataPortalENSG00000166263
TCGA cBioPortalSTXBP4
AceView (NCBI)STXBP4
Genatlas (Paris)STXBP4
WikiGenes252983
SOURCE (Princeton)STXBP4
Genetics Home Reference (NIH)STXBP4
Genomic and cartography
GoldenPath hg38 (UCSC)STXBP4  -     chr17:54968765-55164088 +  17q22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)STXBP4  -     17q22   [Description]    (hg19-Feb_2009)
EnsemblSTXBP4 - 17q22 [CytoView hg19]  STXBP4 - 17q22 [CytoView hg38]
Mapping of homologs : NCBISTXBP4 [Mapview hg19]  STXBP4 [Mapview hg38]
OMIM610415   
Gene and transcription
Genbank (Entrez)AK122865 AK123793 BC041485 BC125116 CA848494
RefSeq transcript (Entrez)NM_178509
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)STXBP4
Cluster EST : UnigeneHs.35199 [ NCBI ]
CGAP (NCI)Hs.35199
Alternative Splicing GalleryENSG00000166263
Gene ExpressionSTXBP4 [ NCBI-GEO ]   STXBP4 [ EBI - ARRAY_EXPRESS ]   STXBP4 [ SEEK ]   STXBP4 [ MEM ]
Gene Expression Viewer (FireBrowse)STXBP4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)252983
GTEX Portal (Tissue expression)STXBP4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZWJ1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZWJ1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZWJ1
Splice isoforms : SwissVarQ6ZWJ1
PhosPhoSitePlusQ6ZWJ1
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)EF-hand-dom_pair    PDZ    WW_dom   
Domain families : Pfam (Sanger)PDZ (PF00595)    WW (PF00397)   
Domain families : Pfam (NCBI)pfam00595    pfam00397   
Domain families : Smart (EMBL)PDZ (SM00228)  WW (SM00456)  
Conserved Domain (NCBI)STXBP4
DMDM Disease mutations252983
Blocks (Seattle)STXBP4
PDB (SRS)2YSG   
PDB (PDBSum)2YSG   
PDB (IMB)2YSG   
PDB (RSDB)2YSG   
Structural Biology KnowledgeBase2YSG   
SCOP (Structural Classification of Proteins)2YSG   
CATH (Classification of proteins structures)2YSG   
SuperfamilyQ6ZWJ1
Human Protein AtlasENSG00000166263
Peptide AtlasQ6ZWJ1
HPRD18127
IPIIPI00217200   IPI00879659   IPI00913918   IPI01011676   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZWJ1
IntAct (EBI)Q6ZWJ1
FunCoupENSG00000166263
BioGRIDSTXBP4
STRING (EMBL)STXBP4
ZODIACSTXBP4
Ontologies - Pathways
QuickGOQ6ZWJ1
Ontology : AmiGOprotein binding  cytoplasm  protein targeting  cellular response to DNA damage stimulus  insulin receptor signaling pathway  positive regulation of keratinocyte proliferation  glucose transport  syntaxin binding  protein stabilization  regulation of insulin secretion involved in cellular response to glucose stimulus  extracellular exosome  positive regulation of cell cycle G1/S phase transition  
Ontology : EGO-EBIprotein binding  cytoplasm  protein targeting  cellular response to DNA damage stimulus  insulin receptor signaling pathway  positive regulation of keratinocyte proliferation  glucose transport  syntaxin binding  protein stabilization  regulation of insulin secretion involved in cellular response to glucose stimulus  extracellular exosome  positive regulation of cell cycle G1/S phase transition  
NDEx NetworkSTXBP4
Atlas of Cancer Signalling NetworkSTXBP4
Wikipedia pathwaysSTXBP4
Orthology - Evolution
OrthoDB252983
GeneTree (enSembl)ENSG00000166263
Phylogenetic Trees/Animal Genes : TreeFamSTXBP4
HOVERGENQ6ZWJ1
HOGENOMQ6ZWJ1
Homologs : HomoloGeneSTXBP4
Homology/Alignments : Family Browser (UCSC)STXBP4
Gene fusions - Rearrangements
Fusion : MitelmanPTRH2/STXBP4 [17q23.1/17q22]  [t(17;17)(q22;q23)]  
Fusion : MitelmanRPTOR/STXBP4 [17q25.3/17q22]  [t(17;17)(q22;q25)]  
Fusion : MitelmanSTXBP4/PPM1D [17q22/17q23.2]  [t(17;17)(q22;q23)]  
Fusion: TCGAAC103810.1 STXBP4 17q22 BRCA
Fusion: TCGAPTRH2 17q23.1 STXBP4 17q22 BRCA
Fusion: TCGARPTOR 17q25.3 STXBP4 17q22 LUSC
Fusion: TCGASTXBP4 17q22 MSI2 17q22 BRCA
Fusion: TCGASTXBP4 17q22 PPM1D 17q23.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSTXBP4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)STXBP4
dbVarSTXBP4
ClinVarSTXBP4
1000_GenomesSTXBP4 
Exome Variant ServerSTXBP4
ExAC (Exome Aggregation Consortium)STXBP4 (select the gene name)
Genetic variants : HAPMAP252983
Genomic Variants (DGV)STXBP4 [DGVbeta]
DECIPHERSTXBP4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSTXBP4 
Mutations
ICGC Data PortalSTXBP4 
TCGA Data PortalSTXBP4 
Broad Tumor PortalSTXBP4
OASIS PortalSTXBP4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSTXBP4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSTXBP4
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 STXBP4
DgiDB (Drug Gene Interaction Database)STXBP4
DoCM (Curated mutations)STXBP4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)STXBP4 (select a term)
intoGenSTXBP4
Cancer3DSTXBP4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610415   
Orphanet
MedgenSTXBP4
Genetic Testing Registry STXBP4
NextProtQ6ZWJ1 [Medical]
TSGene252983
GENETestsSTXBP4
Target ValidationSTXBP4
Huge Navigator STXBP4 [HugePedia]
snp3D : Map Gene to Disease252983
BioCentury BCIQSTXBP4
ClinGenSTXBP4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD252983
Chemical/Pharm GKB GenePA134962267
Clinical trialSTXBP4
Miscellaneous
canSAR (ICR)STXBP4 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSTXBP4
EVEXSTXBP4
GoPubMedSTXBP4
iHOPSTXBP4
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 : Wed Jun 7 12:58:05 CEST 2017

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