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STX11 Gene

protein-coding   GIFtS: 62
GCID: GC06P144513

Syntaxin 11

  See STX11-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, familial. GO annotations related to this gene include 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   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 Chromatin IP Primers for STX11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See STX11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003755.2  
    ENSEMBL proteins: 
     ENSP00000356540  

    STX11 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for STX11
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    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

     
    Search eBioscience for Proteins for STX11 

    STX11 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for STX11
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    Search ThermoFisher Antibodies for STX11
    LSBio Antibodies in human, mouse, rat for STX11

    STX11 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for STX11
    Cloud-Clone Corp. CLIAs for STX11
    Search eBioscience for ELISAs for STX11 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR000727 T_SNARE_dom
     IPR010989 t-SNARE
     IPR028672 STX11
     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


    Find genes that share domains with STX11           About GenesLikeMe


    (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,
    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.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005484SNAP receptor activity IEA--
    GO:0005515protein binding IPI19804848
         
    Find genes that share ontologies with STX11           About GenesLikeMe


    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/body  hematopoietic system  homeostasis/metabolism  immune system 
     no phenotypic analysis 

    Find genes that share phenotypes with STX11           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for STX11
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    miRTarBase miRNAs that target STX11:
    hsa-mir-373-3p (MIRT002522)

    Block miRNA regulation of human, mouse, rat STX11 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for STX11
    Predesigned siRNA for gene silencing in human, mouse, rat STX11

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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for STX11
    Browse ESI BIO Cell Lines and PureStem Progenitors for STX11 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STX11


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    STX11_HUMAN, O75558: Membrane; Peripheral membrane protein (Potential). Golgi apparatus, trans-Golgi network
    membrane; Peripheral membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    golgi apparatus3
    nucleus2
    plasma membrane2
    endosome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with STX11           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).
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    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
    2Transmission across Chemical Synapses
    Neuronal System0.68
    3Disease
    Disease


    Find genes that share SuperPaths with STX11           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for STX11
    Interactions:

        Search GeneGlobe Interaction Network for STX11

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

    Selected Interacting proteins for STX11 (O755582, 3 ENSP000003565404) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    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): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001913T cell mediated cytotoxicity ----
    GO:0006886intracellular protein transport IEA--
    GO:0016192vesicle-mediated transport ----
    GO:0042267natural killer cell mediated cytotoxicity ----
    GO:0043312neutrophil degranulation IEA--

    Find genes that share ontologies with STX11           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    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 )
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    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:
         
    Block miRNA regulation of human, mouse, rat STX11 using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for STX11
    Predesigned 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
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for STX11
    OriGene qSTAR qPCR primer pairs in human, mouse for STX11
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat STX11
      QuantiTect SYBR Green Assays in human, mouse, rat STX11
      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 

    Selected AceView cDNA sequences (see all 56):

    BC033519 BI518895 BF195864 CB528604 BU754565 AI470233 AA213862 NM_003764 
    CD367014 BX099000 AI220388 CA310122 AW504759 CB996946 BM921204 CB994393 
    AA811492 AA828291 AJ012506 AW499912 AA808315 AW026277 BI821088 AI798989 

    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™, 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)
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    STX11 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle
     
     Adipose (Muscoskeletal System)
             White adipocyte-like cells
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Pancreas (Endocrine System)
    STX11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    STX11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.118958
        Custom PCR Arrays for STX11
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for STX11
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    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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for STX11 gene from Selected 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_001163591.11  NP_001157063.11 
     129399835 
    chicken
    (Gallus gallus)
    Aves STX111 syntaxin 11 62.29(n)
    59.93(a)
      428597  XM_004935577.1  XP_004935634.1 
    lizard
    (Anolis carolinensis)
    Reptilia STX116
    syntaxin 11
    60(a)
    1 ↔ 1
    1(206100484-206101350)
    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)
    1 → many
    X(2633122-2638109)
    worm
    (Caenorhabditis elegans)
    Secernentea syx-46
    syx-26
    (see all 3)
    Protein SYX-2 (syx-2) mRNA, complete cds
    (see all 3)
    21(a)
    18(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    IV(8457278-8458872) WBGene00006374
    X(13960079-13962812) WBGene00006372
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SSO26
    SSO16
    Plasma membrane t-SNARE involved in fusion of secr...
    Plasma membrane t-SNARE involved in fusion of secr...
    19(a)
    19(a)
    many ↔ many
    many ↔ many
    XIII(626921-627808) YMR183C
    XVI(107275-108147) YPL232W


    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)
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    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    STX1B    STX2    STX3A
    STX1A    stx1c    STX4

    Find genes that share paralogs with STX11           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)
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    Selected SNPs for STX11 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing STX11
    DNA2.0 Custom Variant and Variant Library Synthesis for STX11

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

  • 5 diseases for STX11:    
    About MalaCards
    hemophagocytic lymphohistiocytosis, familial, 4    hemophagocytic lymphohistiocytosis, familial    hemophagocytic lymphohistiocytosis    chediak-higashi syndrome
    chronic granulomatous disease

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

    Find genes that share disorders with STX11           About GenesLikeMe

    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)
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    PubMed articles for STX11 gene, integrated from 10 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. (J. Biol. Chem. 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. (J. Cell Sci. 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. (Biochem. Biophys. Res. Commun. 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. (Hum. Mol. Genet. 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. (Mol. Med. 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. (Br. J. Haematol. 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. (Genome Res. 2004)
    8. Cutting edge: syntaxin 11 regulates lymphocyte-mediated secretion and cytotoxicity. (PubMed id 17785771)1, 9 Arneson L.N....Leibson P.J. (J. Immunol. 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. (Blood 2007)
    10. STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America. (PubMed id 20486178)1, 9 Marsh R.A....Zhang K. (amp 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 8676 HGNC: 11429 AceView: STX11 Ensembl:ENSG00000135604 euGenes: HUgn8676
    ECgene: STX11 Kegg: 8676 H-InvDB: STX11

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for STX11 Pharmacogenomics, SNPs, Pathways
    STX11basehttp://bioinf.uta.fi/STX11base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=STX11[genesymbol]

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