Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



STXBP5 Gene

protein-coding   GIFtS: 56
GCID: GC06P147566

Syntaxin Binding Protein 5 (Tomosyn)

  See STXBP5-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Syntaxin Binding Protein 5 (Tomosyn)1 2     Putative Protein Product Of Nbla043002
Lethal(2) Giant Larvae Protein Homolog 32 3     Syntaxin-Binding Protein 52
LLGL32 3     tomosyn2
LGL32     tomosyn-12
Nbla043002     Tomosyn-13

External Ids:    HGNC: 196651   Entrez Gene: 1349572   Ensembl: ENSG000001645067   OMIM: 6045865   UniProtKB: Q5T5C03   

Export aliases for STXBP5 gene to outside databases

Previous GC identifers: GC06P147372 GC06P147461 GC06P147505 GC06P145089


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for STXBP5 Gene:
Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic
vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar
protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which
can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release
by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms
have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for STXBP5 Gene:
STXBP5 (syntaxin binding protein 5 (tomosyn)) is a protein-coding gene. Diseases associated with STXBP5 include type 1 von willebrand disease. GO annotations related to this gene include syntaxin-1 binding. An important paralog of this gene is LLGL2.

UniProtKB/Swiss-Prot: STXB5_HUMAN, Q5T5C0
Function: Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane
fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans-SNARE complexes
between transport vesicles and the plasma membrane. Inhibits translocation of GLUT4 from intracellular vesicles
to the plasma membrane. Competes with STXBP1 for STX1 binding (By similarity)

Gene Wiki entry for STXBP5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the STXBP5 gene promoter:
         Elk-1   RP58   C/EBPbeta   GATA-3   FOXJ2 (long isoform)   CUTL1   FOXJ2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSTXBP5 promoter sequence
   Search Chromatin IP Primers for STXBP5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat STXBP5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q24.3   Ensembl cytogenetic band:  6q24.3   HGNC cytogenetic band: 6q24.3

STXBP5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STXBP5 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P147566:  view genomic region     (about GC identifiers)

Start:
147,525,494 bp from pter      End:
147,711,612 bp from pter
Size:
186,119 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: STXB5_HUMAN, Q5T5C0 (See protein sequence)
Recommended Name: Syntaxin-binding protein 5  
Size: 1151 amino acids; 127573 Da
Subunit: Interacts with STX1A and STX1B via its v-SNARE homology domain. Part of a complex that contains STX1,
STXBP5, SNAP25 and SYT1. Part of a complex that contains STXBP5, STX4A and SNAP23 (By similarity)
Sequence caution: Sequence=BAC03475.1; Type=Erroneous initiation;
Secondary accessions: Q14DF3 Q5T5C1 Q5T5C2 Q8NBG8 Q96NG9
Alternative splicing: 3 isoforms:  Q5T5C0-1   Q5T5C0-2   Q5T5C0-3   

Explore the universe of human proteins at neXtProt for STXBP5: NX_Q5T5C0

Explore proteomics data for STXBP5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See STXBP5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001121187.1  NP_640337.3  

    ENSEMBL proteins: 
     ENSP00000356451   ENSP00000321826   ENSP00000356450   ENSP00000356445   ENSP00000376112  
     ENSP00000441479   ENSP00000179882  

    STXBP5 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for STXBP5
    OriGene Custom MassSpec
    OriGene Custom Protein Services for STXBP5
    GenScript Custom Purified and Recombinant Proteins Services for STXBP5
    Novus Biologicals STXBP5 Protein
    Novus Biologicals STXBP5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for STXBP5

     
    Search eBioscience for Proteins for STXBP5 

     
    antibodies-online proteins for STXBP5 (2 products) 

     
    antibodies-online peptides for STXBP5

    STXBP5 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for STXBP5
    Novus Biologicals STXBP5 Antibodies
    Abcam antibodies for STXBP5
    Cloud-Clone Corp. Antibodies for STXBP5
    ThermoFisher Antibodies for STXBP5
    antibodies-online antibodies for STXBP5 (15 products) 

    STXBP5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for STXBP5
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for STXBP5
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for STXBP5
    Cloud-Clone Corp. CLIAs for STXBP5
    Search eBioscience for ELISAs for STXBP5 
    antibodies-online kits for STXBP5 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    WDR: WD repeat domain containing

    Selected InterPro protein domains (see all 8):
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR013905 Lgl_C_dom
     IPR001388 Synaptobrevin
     IPR000664 Lethal2_giant

    Graphical View of Domain Structure for InterPro Entry Q5T5C0

    ProtoNet protein and cluster: Q5T5C0

    2 Blocks protein domains:
    IPB000664 Lethal(2) giant larvae protein signature
    IPB001388 Synaptobrevin


    UniProtKB/Swiss-Prot: STXB5_HUMAN, Q5T5C0
    Similarity: Belongs to the WD repeat L(2)GL family
    Similarity: Contains 1 v-SNARE coiled-coil homology domain
    Similarity: Contains 14 WD repeats


    Find genes that share domains with STXBP5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: STXB5_HUMAN, Q5T5C0
    Function: Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane
    fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans-SNARE complexes
    between transport vesicles and the plasma membrane. Inhibits translocation of GLUT4 from intracellular vesicles
    to the plasma membrane. Competes with STXBP1 for STX1 binding (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0017075syntaxin-1 binding ISS--
    GO:0019905syntaxin binding ----
         
    Find genes that share ontologies with STXBP5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for STXBP5:
     Decreased viability with cispl 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Stxbp5):
     mortality/aging  nervous system 

    Find genes that share phenotypes with STXBP5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Stxbp5tm1Ytk for STXBP5

       genOway: Develop your customized and physiologically relevant rodent model for STXBP5

    miRNA
    Products:
        
    miRTarBase miRNAs that target STXBP5:
    hsa-mir-21-5p (MIRT030955)

    Block miRNA regulation of human, mouse, rat STXBP5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate STXBP5 (see all 57):
    hsa-miR-19b-2* hsa-let-7d hsa-miR-106a hsa-miR-15a hsa-miR-200a hsa-miR-30d hsa-miR-519a hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidSTXBP5 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for STXBP5
    Predesigned siRNA for gene silencing in human, mouse, rat STXBP5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for STXBP5

    Clone
    Products:
         
    OriGene clones in human, mouse for STXBP5 (see all 11)
    OriGene ORF clones in mouse, rat for STXBP5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: STXBP5 (NM_014980)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STXBP5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STXBP5

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for STXBP5
    Browse ESI BIO Cell Lines and PureStem Progenitors for STXBP5 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STXBP5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    STXB5_HUMAN, Q5T5C0: Cytoplasm (By similarity). Cell membrane; Peripheral membrane protein (By similarity).
    Cytoplasmic vesicle membrane; Peripheral membrane protein (By similarity). Cytoplasmic vesicle, secretory
    vesicle, synaptic vesicle (By similarity). Cell junction, synapse (By similarity). Note=Cytoplasmic, and
    associated with vesicular membranes and the plasma membrane. Detected at synapses and on synaptic vesicles (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    nucleus2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005892acetylcholine-gated channel complex ISS--
    GO:0008021synaptic vesicle IEA--
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--

    Find genes that share ontologies with STXBP5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for STXBP5
    Interactions:

        GeneGlobe Interaction Network for STXBP5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for STXBP5 (Q5T5C03 ENSP000003218264) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STX4Q128463, ENSP000003177144I2D: score=3 STRING: ENSP00000317714
    STX1AQ166233, ENSP000002228124I2D: score=3 STRING: ENSP00000222812
    SNAP23O001613, ENSP000002496474I2D: score=3 STRING: ENSP00000249647
    SNAP25P608803, ENSP000002549764I2D: score=2 STRING: ENSP00000254976
    ARRB1P494073I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006887exocytosis IEA--
    GO:0015031protein transport IEA--
    GO:0016192vesicle-mediated transport ----
    GO:0017157regulation of exocytosis ----
    GO:0045921positive regulation of exocytosis ISS--

    Find genes that share ontologies with STXBP5           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for STXBP5 (STXB5)

    1 HMDB Compound for STXBP5    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for STXBP5 gene (2 alternative transcripts): 
    NM_001127715.2  NM_139244.4  

    Unigene Cluster for STXBP5:

    Syntaxin binding protein 5 (tomosyn)
    Hs.86320  [show with all ESTs]
    Unigene Representative Sequence: NM_001127715
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367481(uc003qlz.3 uc010khz.2 uc003qly.3) ENST00000321680(uc003qma.3)
    ENST00000367480 ENST00000367475 ENST00000392291 ENST00000546097 ENST00000179882

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat STXBP5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate STXBP5 (see all 57):
    hsa-miR-19b-2* hsa-let-7d hsa-miR-106a hsa-miR-15a hsa-miR-200a hsa-miR-30d hsa-miR-519a hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidSTXBP5 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for STXBP5
    Predesigned siRNA for gene silencing in human, mouse, rat STXBP5
    Clone
    Products:
         
    OriGene clones in human, mouse for STXBP5 (see all 11)
    OriGene ORF clones in mouse, rat for STXBP5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: STXBP5 (NM_014980)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STXBP5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STXBP5
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for STXBP5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat STXBP5
      QuantiTect SYBR Green Assays in human, mouse, rat STXBP5
      QuantiFast Probe-based Assays in human, mouse, rat STXBP5

    Additional mRNA sequence: 

    AB073398.1 AK055484.1 AK090549.1 AK128121.1 AL834152.1 BC043645.1 BC065713.1 BC107737.1 
    BC113382.1 BC113408.1 

    15 DOTS entries:

    DT.214463  DT.405328  DT.100780264  DT.100780265  DT.40118919  DT.99980269  DT.95290977  DT.121321101 
    DT.91944232  DT.100659436  DT.426292  DT.91816602  DT.99976280  DT.303352  DT.75169291 

    Selected AceView cDNA sequences (see all 176):

    BU166049 R05649 AW674797 BM931555 AK055484 CA449213 AA588329 BG696027 
    AW675432 AL834152 BX457350 AA400749 BU101951 BI491180 BF445880 AA372041 
    AA372042 AA204752 AA400465 AI825998 AW674014 Z39868 AA960970 AW955291 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for STXBP5 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a ·
    SP1:                                            -                       -                                                                                   -   
    SP2:                                                                    -                                                                             -     -   
    SP3:                                                                                                                                            -     -     -   
    SP4:                                                                                                                                                        -   
    SP5:                                            -                                                                                                               

    ExUns: 24b ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b
    SP1:        -                                                               
    SP2:  -     -                                                               
    SP3:  -     -                                                               
    SP4:  -     -                                                               
    SP5:                                                                        


    ECgene alternative splicing isoforms for STXBP5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    STXBP5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGTGGCTAT
    STXBP5 Expression
    About this image


    STXBP5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Eye (Sensory Organs)
             Retina
     
     Spinal Cord (Nervous System)
    STXBP5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    STXBP5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.86320
        Custom PCR Arrays for STXBP5
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for STXBP5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat STXBP5
    QuantiTect SYBR Green Assays in human, mouse, rat STXBP5
    QuantiFast Probe-based Assays in human, mouse, rat STXBP5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STXBP5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for STXBP5 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Stxbp51 , 5 syntaxin binding protein 5 (tomosyn)1, 5 88.88(n)1
    97.13(a)1
      10 (3.21 cM)5
    788081  NM_001081344.21  NP_001074813.21 
     97555475 
    chicken
    (Gallus gallus)
    Aves STXBP51 syntaxin binding protein 5 (tomosyn) 84.65(n)
    93.66(a)
      421620  XM_003640994.2  XP_003641042.1 
    lizard
    (Anolis carolinensis)
    Reptilia STXBP56
    syntaxin binding protein 5 (tomosyn)
    91(a)
    1 ↔ 1
    1(207863474-208028351)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia stxbp51 syntaxin binding protein 5 (tomosyn) 80.6(n)
    89.01(a)
      100488413  XM_002936370.2  XP_002936416.1 
    zebrafish
    (Danio rerio)
    Actinopterygii stxbp5a1 syntaxin binding protein 5a (tomosyn) 72.5(n)
    81.42(a)
      556789  NM_001099981.2  NP_001093451.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tomosyn1 tomosyn 50.93(n)
    47.57(a)
      32217  NM_001258715.1  NP_001245644.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tom-16
    Protein TOM-1, isoform c
    32(a)
    1 → many
    I(5546149-5561642) WBGene00006594


    ENSEMBL Gene Tree for STXBP5 (if available)
    TreeFam Gene Tree for STXBP5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for STXBP5 gene
    LLGL22  LLGL12  STXBP5L2  
    4 SIMAP similar genes for STXBP5 using alignment to 6 protein entries:     STXB5_HUMAN (see all proteins):
    Nbla04300    STXBP5L    LLGL2    LLGL1

    Find genes that share paralogs with STXBP5           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for STXBP5 (see all 3255)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1168419411,2
    C,F--145087102(+) TTCGTG/TTCTTT 2 -- us2k11Minor allele frequency- T:0.05NA 120
    rs122127001,2
    --147527973(+) AGTACA/GGACGA 2 -- int10--------
    rs58806991,2
    C--147528134(+) AAAAA-/ATCACT 2 -- int1 trp30--------
    rs1469210241,2
    C--147528178(+) TTGTC-/AAAAAA 2 -- int10--------
    rs795457191,2
    C,F--147528277(+) ATTTGA/CGTTAA 2 -- int11Minor allele frequency- C:0.23EA 120
    rs2013946121,2
    --147528366(+) TATGT-/ATAG  
            
    ATAGA
    2 -- int10--------
    rs1888789931,2
    C--147528402(+) TTATTA/TGTCAC 2 -- int10--------
    rs121995711,2
    C--147528501(+) TACTAC/TGCAGT 2 -- int10--------
    rs737888171,2
    C,F--147528571(+) ACGGTG/ATGTCT 2 -- int14Minor allele frequency- A:0.12WA CSA NA 242
    rs786297391,2
    C,F--147528590(+) CTTGCC/TCAAAT 2 -- int11Minor allele frequency- T:0.04WA 118

    HapMap Linkage Disequilibrium report for STXBP5 (147525494 - 147711612 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for STXBP5 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2548254CNV Deletion19546169
    esv2732842CNV Deletion23290073
    esv2662896CNV Deletion23128226
    dgv7007n71CNV Loss21882294
    nsv886753CNV Loss21882294
    nsv470864CNV Loss18288195
    nsv886759CNV Loss21882294
    nsv886758CNV Loss21882294
    nsv886752CNV Loss21882294
    nsv823857CNV Loss20364138

    Human Gene Mutation Database (HGMD): STXBP5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing STXBP5
    DNA2.0 Custom Variant and Variant Library Synthesis for STXBP5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 604586    OMIM disorders: --

    1 disease for STXBP5:    
    About MalaCards
    type 1 von willebrand disease


    Find genes that share disorders with STXBP5           About GenesLikeMe

    Genetic Association Database (GAD): STXBP5
    Human Genome Epidemiology (HuGE) Navigator: STXBP5 (3 documents)

    Export disorders for STXBP5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for STXBP5 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with STXBP5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of human LLGL4 gene and mouse Llgl4 gene in silico. (PubMed id 14767561)1, 3, 9 Katoh M. and Katoh M. (Int. J. Oncol. 2004)
    2. Genome-wide examination of genetic variants associated with response to platinum-based chemotherapy in patients with small-cell lung cancer. (PubMed id 20463552)1, 4 Wu C....Lin D. (Pharmacogenet. Genomics 2010)
    3. Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. (PubMed id 20231535)1, 4 Smith N.L....O'Donnell C.J. (Circulation 2010)
    4. Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. (PubMed id 20694014)1, 4 Thye T....Hill A.V. (Nat. Genet. 2010)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    8. Tomosyn: a syntaxin-1-binding protein that forms a novel complex in the neurotransmitter release process. (PubMed id 9620695)1, 3 Fujita Y....Takai Y. (Neuron 1998)
    9. A genome-wide association study (GWAS) for bronchopulmonary dysplasia. (PubMed id 23897914)1 Wang H....O'Brodovich H.M. (Pediatrics 2013)
    10. Effect of genetic variation in STXBP5 and STX2 on von Willebrand factor and bleeding phenotype in type 1 von Willebrand disease patients. (PubMed id 22792389)1 van Loon J.E....Leebeek F.W. (PLoS ONE 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 134957 HGNC: 19665 AceView: STXBP5 Ensembl:ENSG00000164506 euGenes: HUgn134957
    ECgene: STXBP5 H-InvDB: STXBP5

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for STXBP5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for STXBP5 gene:
    Search GeneIP for patents involving STXBP5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for STXBP5  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for STXBP5  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for STXBP5  
     OriGene qSTAR qPCR primer pairs in human, mouse for STXBP5   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for STXBP5   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for STXBP5   OriGene Custom Protein Services for STXBP5  

     
     
     Block miRNA regulation of human, mouse, rat STXBP5 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing STXBP5
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat STXBP5 Predesigned siRNA for gene silencing in human, mouse, rat STXBP5
     QuantiFast Probe-based Assays in human, mouse, rat STXBP5 QuantiTect SYBR Green Assays in human, mouse, rat STXBP5
     Custom PCR Arrays for STXBP5 Search Chromatin IP Primers for STXBP5
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat STXBP5  GeneGlobe Interaction Network for STXBP5
     Regulatory tfbs in STXBP5 promoter
     GenScript Custom Purified and Recombinant Proteins Services for STXBP5 GenScript cDNA clones with any tag delivered in your preferred vector for STXBP5
     GenScript Custom Assay Services for STXBP5 GenScript Custom overexpressing Cell Line Services for STXBP5
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for STXBP5 (STXB5)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     STXBP5 antibodies
     STXBP5 proteins
     STXBP5 lysates
     Antibodies for STXBP5
     See all of Abcam's Antibodies, Kits and Proteins for STXBP5
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for STXBP5
     Antibodies for STXBP5
     ELISAs for STXBP5
     CLIAs for STXBP5



     Browse ESI BIO Cell Lines and PureStem Progenitors for STXBP5
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STXBP5
     SwitchGear 3'UTR luciferase reporter plasmids for STXBP5
     SwitchGear Promoter luciferase reporter plasmids for STXBP5
     ThermoFisher Antibodies for STXBP5
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STXBP5
     Browse compounds at ApexBio
     Search Addgene for plasmids for STXBP5
      Search eBioscience for proteins for STXBP5
      Search eBioscience for elisas for STXBP5
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for STXBP5
     antibodies-online antibodies for STXBP5 (15 products)
     antibodies-online kits for STXBP5 (6 products)
     antibodies-online peptides for STXBP5
     antibodies-online proteins for STXBP5 (2 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      STXBP5 gene at Home site.
    Version: 3.12.248 16 Nov 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4