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

STX11 Gene

protein-coding   GIFtS: 63
GCID: GC06P144513

Syntaxin 11

  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 111 2
FHL42 5
HLH42 5
HPLH42 5
syntaxin-112

External Ids:    HGNC: 114291   Entrez Gene: 86762   Ensembl: ENSG000001356047   OMIM: 6050145   UniProtKB: O755583   

Export aliases for STX11 gene to outside databases

Previous GC identifers: GC06P144094 GC06P144318 GC06P144406 GC06P144452 GC06P142035


(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 STX11 Gene:
This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of
intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the
trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic
lymphohistiocytosis. (provided by RefSeq, Jul 2008)

GeneCards Summary for STX11 Gene: 
STX11 (syntaxin 11) is a protein-coding gene. Diseases associated with STX11 include hemophagocytic lymphohistiocytosis, familial, 4, and hemophagocytic lymphohistiocytosis, and among its related super-pathways are Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics and Proteolytic cleavage of SNARE complex proteins. GO annotations related to this gene include protein binding and SNAP receptor activity. An important paralog of this gene is STX2.

UniProtKB/Swiss-Prot: STX11_HUMAN, O75558
Function: SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network

Gene Wiki entry for STX11 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the STX11 gene promoter:
         TBP   Bach1   LHX3b/Lhx3b   AP-4   NF-E2 p45   C/EBPalpha   IRF-2   IRF-7A   LHX3a/Lhx3a   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): STX11 promoter sequence
   Search SABiosciences Chromatin IP Primers for STX11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STX11


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

Entrez Gene cytogenetic band: 6q24.2   Ensembl cytogenetic band:  6q24.2   HGNC cytogenetic band: 6q24.1

STX11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STX11 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P144513:  view genomic region     (about GC identifiers)

Start:
144,471,654 bp from pter      End:
144,513,076 bp from pter
Size:
41,423 bases      Orientation:
plus 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: STX11_HUMAN, O75558 (See protein sequence)
Recommended Name: Syntaxin-11  
Size: 287 amino acids; 33196 Da
Subunit: Interacts with the SNARE proteins SNAP-23 and VAMP
Subcellular location: Membrane; Peripheral membrane protein (Potential). Golgi apparatus, trans-Golgi network
membrane; Peripheral membrane protein (By similarity)
Secondary accessions: E1P598 O75378 O95148 Q5TCL6

Explore the universe of human proteins at neXtProt for STX11: NX_O75558

Explore proteomics data for STX11 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75558

  • STX11 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    STX11 Protein Expression
    REFSEQ proteins: NP_003755.2  
    ENSEMBL proteins: 
     ENSP00000356540  
    Reactome Protein details: O75558
    Human Recombinant Protein Products for STX11: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for STX11
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for STX11
    GenScript Custom Purified and Recombinant Proteins Services for STX11
    Novus Biologicals STX11 Proteins
    Novus Biologicals STX11 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for STX11
    Cloud-Clone Corp. Proteins for STX11 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0016020membrane IEA--

    STX11 for ontologies           About GeneDecksing



    STX11 Antibody Products: 
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    Cloud-Clone Corp. Antibodies for STX11 
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    LSBio Antibodies in human, mouse, rat for STX11 

    Assay Products for STX11: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for STX11 
    Cloud-Clone Corp. CLIAs for STX11


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR000727 T_SNARE_dom
     IPR010989 t-SNARE
     IPR006011 Syntaxin_N
     IPR006012 Syntaxin/epimorphin_CS

    Graphical View of Domain Structure for InterPro Entry O75558

    ProtoNet protein and cluster: O75558

    1 Blocks protein domain: IPB006011 Syntaxin

    UniProtKB/Swiss-Prot: STX11_HUMAN, O75558
    Similarity: Belongs to the syntaxin family
    Similarity: Contains 1 t-SNARE coiled-coil homology domain


    STX11 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: STX11_HUMAN, O75558
    Function: SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005484SNAP receptor activity IEA--
    GO:0005515protein binding IPI19804848
         
    STX11 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for STX11:
     Decreased homologous recombina 

         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Stx11):
     behavior/neurological  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     no phenotypic analysis 

    STX11 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for STX11: Stx11tm1Bupa Stx11tm1.2Ics

       inGenious Targeting Laboratory - Custom generated mouse model solutions for STX11 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for STX11

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for STX11 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for STX11 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat STX11
    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate STX11 (see all 41):
    hsa-miR-142-5p hsa-miR-345 hsa-miR-520f hsa-miR-199a-3p hsa-miR-1244 hsa-miR-510 hsa-miR-3148 hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmidSTX11 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for STX11
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STX11

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of STX11

    Clone
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    GenScript: all cDNA clones in your preferred vector: STX11 (NM_003764)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STX11
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STX11
    Sirion Biotech Customized lentivirus for stable overexpression of STX11 
                         Customized lentivirus expression plasmids for stable overexpression of STX11 

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STX11


    (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

    SuperPaths for STX11 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics0.44
    SNARE interactions in vesicular transport0.40
    2Botulinum neurotoxicity
    Botulinum neurotoxicity0.89
    Proteolytic cleavage of SNARE complex proteins0.89
    3Transmission across Chemical Synapses
    Neuronal System0.67
    4Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for STX11
        Proteolytic cleavage of SNARE complex proteins
    Botulinum neurotoxicity
    Neuronal System
    Disease

    1 PharmGKB Pathway for STX11
        Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

    1         Kegg Pathway  (Kegg details for STX11):
        SNARE interactions in vesicular transport


    STX11 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for STX11

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/21 Interacting proteins for STX11 (O755582, 3 ENSP000003565404) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCNKO759092, 3, ENSP000003745294MINT-66768 I2D: score=5 STRING: ENSP00000374529
    PSMC3P179802, 3, ENSP000002988524MINT-63213 I2D: score=5 STRING: ENSP00000298852
    TAF6LQ9Y6J92, 3, ENSP000002941684MINT-66418 I2D: score=5 STRING: ENSP00000294168
    SNX3O604932, 3, ENSP000002300854MINT-63212 I2D: score=4 STRING: ENSP00000230085
    SNAP25P608802, 3, ENSP000002549764MINT-63923 MINT-66857 I2D: score=6 STRING: ENSP00000254976
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0016192vesicle-mediated transport IEA--
    GO:0061025membrane fusion TAS9553086

    STX11 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 STX11

    Search CenterWatch for drugs/clinical trials and news about STX11

    (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 STX11 gene: 
    NM_003764.3  

    Unigene Cluster for STX11:

    Syntaxin 11
    Hs.118958  [show with all ESTs]
    Unigene Representative Sequence: NM_003764
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000367568(uc003qks.4)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat STX11
    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate STX11 (see all 41):
    hsa-miR-142-5p hsa-miR-345 hsa-miR-520f hsa-miR-199a-3p hsa-miR-1244 hsa-miR-510 hsa-miR-3148 hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmidSTX11 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for STX11
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STX11
    Clone
    Products:
         
    OriGene clones in human, mouse for STX11 (see all 9)
    OriGene ORF clones in mouse, rat for STX11
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: STX11 (NM_003764)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STX11
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STX11
    Sirion Biotech Customized lentivirus for stable overexpression of STX11 
                         Customized lentivirus expression plasmids for stable overexpression of STX11 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for STX11
    OriGene qSTAR qPCR primer pairs in human, mouse for STX11
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat STX11
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STX11
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STX11

    Additional mRNA sequence: 

    AF038898.1 AF044309.1 AF071504.1 AJ012501.1 AJ012506.1 BC033519.1 

    4 DOTS entries:

    DT.110788  DT.65285521  DT.120853174  DT.40316687 

    24/56 AceView cDNA sequences (see all 56):

    BC033519 BI518895 AI220388 CA310122 AA213862 CD367014 NM_003764 BX099000 
    BU754565 AI470233 CB528604 BF195864 AA884281 CB998242 BM150302 AW026277 
    BI821088 BQ030324 AF044309 AA262151 CB996946 AA227632 AJ012501 BM149800 

    GeneLoc Exon Structure


    (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

    STX11 expression in normal human tissues (normalized intensities)      STX11 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    STX11 Expression
    About this image


    STX11 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Cord Blood CD133- Cells   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Cord Blood CD133- Cells   
     
     Lymph (Hematopoietic System)    fully expand to see all 2 entries
             LYMPH NODE   
     
     Heart (Cardiovascular System)
             Fetal cardiomyocytes (20 weeks)
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle

    See STX11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for STX11

    SOURCE GeneReport for Unigene cluster: Hs.118958
        SABiosciences Custom PCR Arrays for STX11
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STX11
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STX11

    (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 and fungi.

    Orthologs for STX11 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Stx111 , 5 syntaxin 111, 5 86.71(n)1
    85.31(a)1
      10 (4.54 cM)5
    747321  NM_001163590.11  NP_001157062.11 
     129399835 
    chicken
    (Gallus gallus)
    Aves STX111 syntaxin 11 62.29(n)
    59.57(a)
      428597  XM_426154.3  XP_426154.2 
    lizard
    (Anolis carolinensis)
    Reptilia STX116
    --
    Uncharacterized protein
    60(a)
    22(a)
    1 ↔ 1
    possible ortholog
    1(206100484-206101350)
    GL343826.1(93338-94620)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.183602 Xenopus laevis transcribed sequence with weak similarity more 69.67(n)    BU913521.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CA975509.12   -- 73.81(n)    CA975509.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Syx46
    Syntaxin 4
    16(a)
    possible ortholog
    X(2633122-2638109)
    worm
    (Caenorhabditis elegans)
    Secernentea syx-46
    syx-36
    (see all 3)
    Putative syntaxin-1
    (see all 3)
    20(a)
    17(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    IV(8457278-8458872)
    X(5349096-5352393)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SSO16
    SSO26
    Plasma membrane t-SNARE involved in fusion of secr...
    Plasma membrane t-SNARE involved in fusion of secr...
    19(a)
    17(a)
    many ↔ many
    many ↔ many
    XVI(107275-108147)
    XIII(626921-627808)


    ENSEMBL Gene Tree for STX11 (if available)
    TreeFam Gene Tree for STX11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for STX11 gene
    STX22  STX1A2  STX1B2  STX32  STX192  STX42  
    9 SIMAP similar genes for STX11 using alignment to 1 protein entry:     STX11_HUMAN:
    DKFZp686L1857    STX3    STX19    STX2    STX1B    STX3A
    STX1A    stx1c    STX4

    STX11 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

    10/843 SNPs in STX11 are shown (see all 843)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048939961,2
    Cpathogenic1144507077(+) CCGTGC/TAGTAC 2 Q * stg10--------
    rs1138792411,2
    C--142044091(+) GACTCTGTG/-  
            
    TGTGT
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1445868061,2
    C--142054314(+) CCCTC-/CCT   
       TCCTT
    CCTTC
    1 -- int10--------
    rs1839809911,2
    C--142054318(+) TCCCTC/TCCTTC 1 -- int10--------
    rs77548831,2
    C,F,A,H--144468167(+) gaattT/Gccata 1 -- us2k16Minor allele frequency- G:0.06NS EA WA 654
    rs1420375941,2
    --144468236(+) TAATCA/CACCTT 1 -- us2k10--------
    rs1511820691,2
    --144468341(+) ACATTA/GCATTT 1 -- us2k10--------
    rs800110031,2
    C,F--144468347(+) CATTTA/CGTTTT 1 -- us2k11Minor allele frequency- C:0.11EA 120
    rs356813721,2
    C,F--144468443(+) TATGTC/TGGCCA 1 -- us2k11Minor allele frequency- T:0.11EA 120
    rs783484731,2
    C,F--144468611(+) CACTAC/TTGGAA 1 -- us2k11Minor allele frequency- T:0.11EA 120

    HapMap Linkage Disequilibrium report for STX11 (144471654 - 144513076 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for STX11:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv507367CNV Insertion20534489
    nsv830831CNV Gain17160897


    Human Gene Mutation Database (HGMD): STX11

    Locus Specific Mutation Databases (LSDB): STX11
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605014   
    OMIM disorders: 603552  
    UniProtKB/Swiss-Prot: STX11_HUMAN, O75558
  • Familial hemophagocytic lymphohistiocytosis 4 (FHL4) [MIM:603552]: A rare disorder characterized by
    immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration
    of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever,
    hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and
    hypotonia to seizures, cranial nerve deficits and ataxia. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 10 diseases for STX11:    About MalaCards
    hemophagocytic lymphohistiocytosis, familial, 4    hemophagocytic lymphohistiocytosis    hemophagocytic lymphohistiocytosis, familial    chediak-higashi syndrome
    chronic granulomatous disease    agammaglobulinemia    hypertriglyceridemia    hypotonia
    ataxia    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for STX11:
    Hemophagocytic lymphohistiocytosis     Chediak-Higashi syndrome

    STX11 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for STX11 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial hemophagocytic lymphohistiocytosis 94.6 4 19804848 (1), 17525286 (1), 16180048 (1), 15703195 (1)

    GeneTests: STX11
    GeneReviews: STX11
    Genetic Association Database (GAD): STX11
    Human Genome Epidemiology (HuGE) Navigator: STX11 (2 documents)

    Export disorders for STX11 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 STX11 gene, integrated from 9 sources (see all 44):
    (articles sorted by number of sources associating them with STX11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Seven novel mammalian SNARE proteins localize to distinct membrane compartments. (PubMed id 9553086)1, 2, 3 Advani R.J.... Scheller R.H. (1998)
    2. Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network. (PubMed id 10036234)1, 2, 9 Valdez A.C.... Roche P.A. (1999)
    3. Syntaxin 11: a member of the syntaxin family without a carboxyl terminal transmembrane domain. (PubMed id 9571206)1, 2, 9 Tang B.L.... Hong W. (1998)
    4. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. (PubMed id 15703195)1, 2, 9 zur Stadt U....Hennies H.C. (2005)
    5. 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)
    6. Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. (PubMed id 18710388)1, 4 Horne A....Henter J.I. (2008)
    7. 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)
    8. Cutting edge: syntaxin 11 regulates lymphocyte-mediated secretion and cytotoxicity. (PubMed id 17785771)1, 9 Arneson L.N....Leibson P.J. (2007)
    9. Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. (PubMed id 17525286)1, 9 Bryceson Y.T....Ljunggren H.G. (2007)
    10. STX11 mutations and clinical phenotypes of familial h emophagocytic lymphohistiocytosis in North America. (PubMed id 20486178)1, 9 Marsh R.A....Zhang K. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 8676 HGNC: 11429 AceView: STX11 Ensembl:ENSG00000135604 euGenes: HUgn8676
    ECgene: STX11 Kegg: 8676 H-InvDB: STX11

    (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 STX11 Pharmacogenomics, SNPs, Pathways
    STX11basehttp://bioinf.uta.fi/STX11base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/STX11

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for STX11 gene:
    Search GeneIP for patents involving STX11

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



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