Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

STXBP6 Gene

protein-coding   GIFtS: 52
GCID: GC14M025278

Syntaxin Binding Protein 6 (Amisyn)

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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

Aliases
Syntaxin Binding Protein 6 (Amisyn)1 2
amisyn2
Syntaxin-Binding Protein 62
Amisyn3

External Ids:    HGNC: 196661   Entrez Gene: 290912   Ensembl: ENSG000001689527   OMIM: 6079585   UniProtKB: Q8NFX73   

Export aliases for STXBP6 gene to outside databases

Previous GC identifers: GC14M019066 GC14M023268 GC14M023271 GC14M024348 GC14M005395


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

Entrez Gene summary for STXBP6 Gene:
STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex
formation (Scales et al., 2002 (PubMed 12145319)).(supplied by OMIM, Mar 2008)

GeneCards Summary for STXBP6 Gene: 
STXBP6 (syntaxin binding protein 6 (amisyn)) is a protein-coding gene. Diseases associated with STXBP6 include rheumatoid arthritis, and alzheimer's disease. An important paralog of this gene is EXOC1.

UniProtKB/Swiss-Prot: STXB6_HUMAN, Q8NFX7
Function: Forms non-fusogenic complexes with SNAP25 and STX1A and may thereby modulate the formation of functional
SNARE complexes and exocytosis




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the STXBP6 gene promoter:
         ER-alpha   NF-E2 p45   Ik-3   Meis-1b   Pax-3   SRY   Meis-1a   ZIC2/Zic2   NF-E2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSTXBP6 promoter sequence
   Search SABiosciences Chromatin IP Primers for STXBP6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STXBP6


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

Entrez Gene cytogenetic band: 14q12   Ensembl cytogenetic band:  14q12   HGNC cytogenetic band: 14q11.2

STXBP6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STXBP6 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M025278:  view genomic region     (about GC identifiers)

Start:
25,278,862 bp from pter      End:
25,519,503 bp from pter
Size:
240,642 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: STXB6_HUMAN, Q8NFX7 (See protein sequence)
Recommended Name: Syntaxin-binding protein 6  
Size: 210 amino acids; 23554 Da
Subunit: Part of a ternary complex containing SNAP25 and STX1A that can be dissociated by NAPA and NSF. Interacts
with STX4A
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein
Sequence caution: Sequence=AAM46624.1; Type=Erroneous initiation;
Secondary accessions: D3DS78 Q8N3H1 Q8N8D5 Q96GF3 Q9P008
Alternative splicing: 3 isoforms:  Q8NFX7-1   Q8NFX7-2   Q8NFX7-3   (May be due to an intron retention)

Explore the universe of human proteins at neXtProt for STXBP6: NX_Q8NFX7

Explore proteomics data for STXBP6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NFX7

  • STXBP6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    STXBP6 Protein Expression
    REFSEQ proteins: NP_054897.4  
    ENSEMBL proteins: 
     ENSP00000379928   ENSP00000447383   ENSP00000324302   ENSP00000397212   ENSP00000449536  
     ENSP00000449379   ENSP00000447655   ENSP00000447268   ENSP00000351083  

    Human Recombinant Protein Products for STXBP6: 
    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
    OriGene Purified Protein for STXBP6
    OriGene Protein Over-expression Lysate for STXBP6
    OriGene MassSpec for STXBP6 
    OriGene Custom Protein Services for STXBP6
    GenScript Custom Purified and Recombinant Proteins Services for STXBP6
    Novus Biologicals STXBP6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for STXBP6 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0016021integral to membrane IEA--

    STXBP6 for ontologies           About GeneDecksing



    STXBP6 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for STXBP6
    OriGene Custom Antibody Services for STXBP6
    GenScript Custom Superior Antibodies Services for STXBP6
    Novus Biologicals STXBP6 Antibodies
    Abcam antibodies for STXBP6
    Cloud-Clone Corp. Antibodies for STXBP6 
    ThermoFisher Antibodies for STXBP6
    LSBio Antibodies in human, mouse, rat for STXBP6 

    Assay Products for STXBP6: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for STXBP6
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for STXBP6
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for STXBP6 
    Cloud-Clone Corp. CLIAs for STXBP6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001388 Synaptobrevin

    Graphical View of Domain Structure for InterPro Entry Q8NFX7

    ProtoNet protein and cluster: Q8NFX7

    1 Blocks protein domain: IPB001388 Synaptobrevin

    UniProtKB/Swiss-Prot: STXB6_HUMAN, Q8NFX7
    Similarity: Contains 1 v-SNARE coiled-coil homology domain


    STXBP6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: STXB6_HUMAN, Q8NFX7
    Function: Forms non-fusogenic complexes with SNAP25 and STX1A and may thereby modulate the formation of functional
    SNARE complexes and exocytosis

    Animal Models:

       inGenious Targeting Laboratory - Custom generated mouse model solutions for STXBP6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for STXBP6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for STXBP6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for STXBP6 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat STXBP6
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate STXBP6:
    hsa-miR-34b* hsa-miR-548am hsa-miR-133b hsa-miR-578 hsa-miR-133a hsa-miR-548x hsa-miR-889 hsa-miR-449c
    SwitchGear 3'UTR luciferase reporter plasmidSTXBP6 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for STXBP6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STXBP6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for STXBP6
    Sirion Biotech Customized adenovirus for overexpression of STXBP6

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for STXBP6 (see all 8)
    OriGene ORF clones in mouse, rat for STXBP6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: STXBP6 (NM_014178)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STXBP6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STXBP6
    Sirion Biotech Customized lentivirus for stable overexpression of STXBP6 
                         Customized lentivirus expression plasmids for stable overexpression of STXBP6 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for STXBP6
    Search LifeMap BioReagents cell lines for STXBP6
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STXBP6


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for STXBP6

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for STXBP6 (Q8NFX73 ENSP000003243024) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STX4Q128463, ENSP000003177144I2D: score=1 STRING: ENSP00000317714
    SNAP25P608803, ENSP000002549764I2D: score=1 STRING: ENSP00000254976
    STX1AQ166233, ENSP000002228124I2D: score=1 STRING: ENSP00000222812
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016192vesicle-mediated transport IEA--

    STXBP6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for STXBP6 (STXB6)

    Search CenterWatch for drugs/clinical trials and news about STXBP6 / STXB6

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for STXBP6 gene: 
    NM_014178.6  

    Unigene Cluster for STXBP6:

    Syntaxin binding protein 6 (amisyn)
    Hs.508958  [show with all ESTs]
    Unigene Representative Sequence: AL834346
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396700 ENST00000548724(uc001wpv.3) ENST00000323944(uc001wpw.3)
    ENST00000419632(uc001wpt.3 uc001wpu.3) ENST00000546511 ENST00000550887
    ENST00000548369 ENST00000548182(uc001wpx.1) ENST00000358326

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat STXBP6
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate STXBP6:
    hsa-miR-34b* hsa-miR-548am hsa-miR-133b hsa-miR-578 hsa-miR-133a hsa-miR-548x hsa-miR-889 hsa-miR-449c
    SwitchGear 3'UTR luciferase reporter plasmidSTXBP6 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for STXBP6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STXBP6
    Clone
    Products:
         
    OriGene clones in human, mouse for STXBP6 (see all 8)
    OriGene ORF clones in mouse, rat for STXBP6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: STXBP6 (NM_014178)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STXBP6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STXBP6
    Sirion Biotech Customized lentivirus for stable overexpression of STXBP6 
                         Customized lentivirus expression plasmids for stable overexpression of STXBP6 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for STXBP6
    OriGene qSTAR qPCR primer pairs in human, mouse for STXBP6
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat STXBP6
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STXBP6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STXBP6

    Additional mRNA sequence: 

    AF161505.1 AF391153.1 AK096957.1 AK309203.1 AL834346.1 BC009499.2 BC067278.1 

    8 DOTS entries:

    DT.95286519  DT.91756909  DT.100773366  DT.99930467  DT.120760833  DT.120760841  DT.100773365  DT.92041692 

    24/140 AceView cDNA sequences (see all 140):

    AW134979 AA256850 BE292897 CD673139 AW002771 AW517480 R43966 AA256379 
    CB069205 AI190370 AI698322 N31108 BQ881157 BC067278 AI271647 BQ268942 
    BM738712 AI740751 AA309018 BM353657 BQ024551 BM479164 F09006 AI131058 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for STXBP6    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                    -           -           -                             -         
    SP2:                                                                                    
    SP3:                          -     -           -                             -         
    SP4:                    -     -     -           -                                       


    ECgene alternative splicing isoforms for STXBP6

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    STXBP6 expression in normal human tissues (normalized intensities)      STXBP6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACCATCACC
    STXBP6 Expression
    About this image


    STXBP6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             brain/forebrain/diencephalon   
     
     Lower Urinary Tract (Muscoskeletal System)    fully expand to see all 2 entries
             Human Bladder Smooth Muscle Cells (HBdSMC)   
             visceral organ/metanephros/renal cortex   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             renal vesicle e12.5   
     
     Smooth Muscle (Muscoskeletal System)
             Human Bladder Smooth Muscle Cells (HBdSMC)   

    See STXBP6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for STXBP6

    SOURCE GeneReport for Unigene cluster: Hs.508958

    UniProtKB/Swiss-Prot: STXB6_HUMAN, Q8NFX7
    Tissue specificity: Detected at low levels in brain, and at very low levels in heart, adrenal gland, testis, liver
    and kidney

        SABiosciences Custom PCR Arrays for STXBP6
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for STXBP6
    OriGene qSTAR qPCR primer pairs in human, mouse for STXBP6
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat STXBP6
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STXBP6
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STXBP6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STXBP6

    (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

    This gene was present in the common ancestor of animals.

    Orthologs for STXBP6 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Stxbp61 , 5 syntaxin binding protein 6 (amisyn)1, 5 92.86(n)1
    98.57(a)1
      12 (20.71 cM)5
    2175171  NM_144552.31  NP_653135.21 
     448524885 
    chicken
    (Gallus gallus)
    Aves STXBP61 syntaxin binding protein 6 (amisyn) 85.08(n)
    94.29(a)
      423299  NM_001199711.1  NP_001186640.1 
    lizard
    (Anolis carolinensis)
    Reptilia STXBP66
    Uncharacterized protein
    91(a)
    1 ↔ 1
    1(30008532-30040594)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC687962 hypothetical protein MGC68796 76.75(n)    BC060365.1 
    zebrafish
    (Danio rerio)
    Actinopterygii stxbp61 syntaxin binding protein 6 (amisyn) 70.79(n)
    74.76(a)
      415153  NM_001002063.1  NP_001002063.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sec36
    sec3
    5(a)
    1 → many
    3L(17414887-17418317)
    worm
    (Caenorhabditis elegans)
    Secernentea sec-36
    Exocyst complex component 1
    4(a)
    1 → many
    X(3095437-3099837)


    ENSEMBL Gene Tree for STXBP6 (if available)
    TreeFam Gene Tree for STXBP6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for STXBP6 gene
    EXOC12  
    1 SIMAP similar gene for STXBP6 using alignment to 2 protein entries:     STXB6_HUMAN (see all proteins):
    EXOC1

    STXBP6 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4474 SNPs in STXBP6 are shown (see all 4474)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs343714131,2
    C--5509670(+) ATATC-/TTTGGGC 1 -- int10--------
    rs1453025101,2
    C--25280884(+) ATAAAC/TAGATA 1 -- ds50010--------
    rs772720611,2
    F--25281015(+) TAAATC/GTACTA 1 -- ds50010--------
    rs1909752131,2
    --25281103(+) ACCAGC/TGACCA 1 -- ds50010--------
    rs2009287531,2
    C--25281166(+) TAGGC-/TTTTCT 1 -- ds50010--------
    rs751233681,2
    C--25281171(+) TTTTCC/TTTAGG 1 -- ds50010--------
    rs1996539091,2
    --25281171(+) TTTTC-/TTTAGG 1 -- ds50010--------
    rs1840127801,2
    --25281173(+) TTCTTC/TAGGGC 1 -- ds50010--------
    rs22970591,2
    C,F,H--25281213(+) ATAATA/TCCAAG 1 -- ds500114Minor allele frequency- N:0.00EA NA NS WA CSA 824
    rs1464964591,2
    C--25281217(+) TTCCAA/GGTAAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for STXBP6 (25278862 - 25519503 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for STXBP6 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv21738CNV Loss19812545
    nsv527684CNV Loss19592680
    esv25325CNV Loss19812545
    nsv901505CNV Gain21882294
    nsv901508CNV Gain21882294
    nsv901510CNV Gain21882294
    nsv525203CNV Gain19592680
    nsv901506CNV Gain21882294
    nsv901504CNV Gain21882294
    nsv456169CNV Gain19166990

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing STXBP6
    DNA2.0 Custom Variant and Variant Library Synthesis for STXBP6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607958    OMIM disorders: --

    3 diseases for STXBP6:    About MalaCards
    rheumatoid arthritis    alzheimer's disease    arthritis


    STXBP6 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): STXBP6
    Human Genome Epidemiology (HuGE) Navigator: STXBP6 (1 document)

    Export disorders for STXBP6 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

    PubMed articles for STXBP6 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with STXBP6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Amisyn, a novel syntaxin-binding protein that may regulate SNARE complex assembly. (PubMed id 12145319)1, 2, 3 Scales S.J.... Scheller R.H. (2002)
    2. Identification of nine novel loci associated with whi te blood cell subtypes in a Japanese population. (PubMed id 21738478)1, 4 Okada Y....Kamatani N. (2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
    7. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
    8. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (2012)
    9. CD6 and syntaxin binding protein 6 variants and respon se to tumor necrosis factor alpha inhibitors in Danish patients with rheumatoid arthritis. (PubMed id 22685579)1 Krintel S.B....Hetland M.L. (2012)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 29091 HGNC: 19666 AceView: STXBP6 Ensembl:ENSG00000168952 euGenes: HUgn29091
    ECgene: STXBP6 H-InvDB: STXBP6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for STXBP6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for STXBP6 gene:
    Search GeneIP for patents involving STXBP6

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for STXBP6   OriGene RNAi products in human, mouse, rat for STXBP6  
     OriGene qPCR primer pairs and template standards for STXBP6   OriGene Protein Over-expression Lysate for STXBP6  
     OriGene MassSpec something-or-other for STXBP6   OriGene clones in human, mouse for STXBP6  
     OriGene qSTAR qPCR primer pairs in human, mouse for STXBP6   OriGene Purified Protein for STXBP6  
     OriGene ORF clones in mouse, rat for STXBP6   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for STXBP6   OriGene Custom Protein Services for STXBP6  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat STXBP6
     QIAGEN SeqTarget long-range PCR primers for resequencing STXBP6
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STXBP6
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STXBP6
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STXBP6
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STXBP6
     GenScript Custom Purified and Recombinant Proteins Services for STXBP6 GenScript cDNA clones with any tag delivered in your preferred vector for STXBP6
     GenScript Custom Assay Services for STXBP6 GenScript Custom Superior Antibodies Services for STXBP6
     GenScript Custom overexpressing Cell Line Services for STXBP6 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

     Regulatory tfbs in STXBP6 promoter
     Search Chromatin IP Primers for STXBP6
     RT2 qPCR Primer Assay in human, mouse, rat STXBP6
     GNC Network for STXBP6
     SABiosciences Custom PCR Arrays for STXBP6
     Search Tocris compounds for STXBP6 (STXB6)
     Browse Sino Biological Proteins and Antibodies
     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
     STXBP6 antibodies
     STXBP6 lysates
     Antibodies for STXBP6
     See all of Abcam's Antibodies, Kits and Proteins for STXBP6
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for STXBP6
     Antibodies for STXBP6
     ELISAs for STXBP6
     CLIAs for STXBP6
     Search LifeMap BioReagents cell lines for STXBP6
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STXBP6
     SwitchGear 3'UTR luciferase reporter plasmids for STXBP6
     SwitchGear Promoter luciferase reporter plasmids for STXBP6
     ThermoFisher Antibodies for STXBP6
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STXBP6
     inGenious Targeting Laboratory - Custom generated mouse model solutions for STXBP6
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for STXBP6
    Customized:
     lentivirus for stable overexpression of STXBP6
     lentivirus expression plasmids for stable overexpression of STXBP6
     adenovirus for overexpression of STXBP6
     LSBio Antibodies in human, mouse, rat for STXBP6
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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      STXBP6 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4