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

STX11 Gene

protein-coding   GIFtS: 60
GCID: GC06P144513

syntaxin 11
 Explore 12 diseases affiliated with
STX11 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for STX11    

Aliases
for STX11 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Syntaxin 111 2
FHL42 5
HLH42 5
HPLH42 5
Syntaxin-111

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


Summaries
for STX11 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
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

Proteins
for STX11 gene

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75558

    • STX11 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003755.2  
    ENSEMBL proteins: 
     ENSP00000356540  
    Reactome Protein details: O75558
    Human Recombinant Protein Products: 
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: STX11
    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
    ProSpec Recombinant Protein for STX11
    Uscn 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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    Uscn Antibodies for STX11
    Search ThermoFisher Antibodies for STX11

    Assay Products for STX11: 
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    Uscn ELISAs and CLIAs for STX11

    Protein Domains /
    Families
    for STX11 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    STX11 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB006011 Syntaxin

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


    Function
    for STX11 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: STX11
    Browse MicroRNA Expression Plasmids
    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 plasmid: STX11 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for STX11 (see all 4)
    OriGene shRNA RFP: STX11
    OriGene siRNA: STX11
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STX11

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for STX11

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STX11 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STX11
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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 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for STX11
    Search LifeMap BioReagents cell lines for STX11

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STX11

    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


    1 GenomeRNAi human phenotype for STX11:
     Decreased homologous recombina 

    Animal Models:
         Mouse knock-out Stx11tm1Bupa for STX11
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Stx11):
     immune system 

    STX11 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for STX11 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    		Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics1.00
    		SNARE interactions in vesicular transport0.40
    2Botulinum neurotoxicity
    		Botulinum neurotoxicity1.00
    		Proteolytic cleavage of SNARE complex proteins0.89
    3Disease
    		Disease1.00
    4Transmission across Chemical Synapses
    		Neuronal System0.67

    Pathway sources
    See GeneCards unified pathways
    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:0006944cellular membrane fusion TAS9553086
    GO:0016192vesicle-mediated transport IEA--


    STX11 for ontologies           About GeneDecksing



    Drugs & Compounds
    for STX11 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for STX11 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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:             		 OriGene 3'-UTR Clone: STX11
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: STX11 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for STX11 (see all 4)
    OriGene shRNA RFP: STX11
    OriGene siRNA: STX11
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STX11
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STX11 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 genome-wide validated SYBR primer pairs in human, mouse, rat for STX11
    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA 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):

    AI220388 BF195864 CB528604 BC033519 AA213862 BU754565 CD367014 CA310122 
    BX099000 AI470233 NM_003764 BI518895 AJ012501 AI798989 BQ030324 AW500436 
    BM150302 AI275149 AA227632 AA811492 AJ012506 AA808315 AW499912 AA828291 

    GeneLoc Exon Structure


    Expression
    for STX11 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    STX11 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleCumulus CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    White adipocyte-like cells (Differentiation of ...)Adipose

    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
    for STX11 gene

    (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 eukaryotes.

    Orthologs for STX11 gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 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 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 25(a)
    		 1 → many
    		 Group3.19(21522-22264)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons SYP1236
    ATSYP1326
    (see all 9)    		 syntaxin-132
    (see all 9)    		 18(a)
    17(a)
    (see all 9)    		 many ↔ many
    many ↔ many
    (see all 9)    		 4(1466336-1467750)
    5(2588342-2591316)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 7)    		 syntaxin, putative, expressed
    (see all 7)    		 19(a)
    17(a)
    (see all 7)    		 many ↔ many
    many ↔ many
    (see all 7)    		 3(30185923-30187171)
    6(23184060-23185299)


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

    Paralogs
    for STX11 gene

    (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



    Genomic Variants
    for STX11 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/699 NCBI SNPs in STX11 are shown (see all 699)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs729921651,2
    		C,F,--142033286(+) TACATT/CTAGTT 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs737785311,2
    		C,--142033856(+) CTCCTC/TTCCGC 1 -- us2k12Minor allele frequency- T:0.09WA 120
    rs751625401,2
    		C,--142033978(+) GTTCCA/CTCTTT 1 -- us2k12Minor allele frequency- C:0.09WA 120
    rs771358231,2
    		C,--142034126(+) GGCGCG/CATCTC 1 -- us2k12Minor allele frequency- C:0.10WA EA 122
    rs737785331,2
    		C,--142034383(+) GAGTAT/GCACTT 1 -- us2k12Minor allele frequency- G:0.10WA 120
    rs1126620151,2
    		--142034703(+) GCAGCT/GTCCGC 1 -- us2k12Minor allele frequency- G:0.04CSA WA 120
    rs788466541,2
    		F,--142034790(+) AGCGGG/AGATTC 1 -- us2k11Minor allele frequency- A:0.20WA 118
    rs749797511,2
    		F,--142034975(+) GACTCT/CGGGTG 1 -- us2k12Minor allele frequency- C:0.13WA EA 238
    rs121758561,2
    		C,F,H,--142035024(+) GCCCCA/GGCGCT 1 -- us2k115Minor allele frequency- G:0.16NS EA NA 2196
    rs737785341,2
    		C,--142035306(+) TCTTCC/TTGAGC 1 -- int11Minor allele frequency- T:0.50WA 2

    HapMap Linkage Disequilibrium report for STX11 (144471654 - 144513076 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for STX11: --
    Human Gene Mutation Database (HGMD): STX11

    Locus Specific Mutation Databases (LSDB): STX11

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing STX11
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    Disorders / Diseases
    for STX11 gene

    (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.)
    About This Section
    STX11 for disorders           About GeneDecksing

    OMIM gene information: 605014   
    OMIM disorders: 603552  
    UniProtKB/Swiss-Prot: STX11_HUMAN, O75558
  • Defects in STX11 are the cause of familial hemophagocytic lymphohistiocytosis type 4 (FHL4) [MIM:603552]; also
    • known as HPLH4. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous, rare autosomal
    recessive disorder. It is characterized by immune dysregulation with hypercytokinemia and defective natural killer
    cell function. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia,
    hypertriglyceridemia, hypofibrinogenemia, and neurological abnormalities ranging from irritability and hypotonia to
    seizures, cranial nerve deficits, and ataxia. Hemophagocytosis is a prominent feature of the disease, and a
    non-malignant infiltration of macrophages and activated T-lymphocytes in lymph nodes, spleen, and other organs is also
    found

    12 diseases for STX11:    About MalaCards
    hemophagocytic lymphohistiocytosis    hemophagocytic lymphohistiocytosis, familial, 4    hemophagocytic lymphohistiocytosis, familial    chediak-higashi syndrome
    chronic granulomatous disease    hypofibrinogenemia    agammaglobulinemia    hypertriglyceridemia
    hypotonia    hermaphroditism    ataxia    malaria

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

    1 Novoseek 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
    Familial Hemophagocytic Lymphohistiocytosis

    Human Genome Epidemiology (HuGE) Navigator: STX11 (2 documents)

    Export disorders for STX11 gene to outside databases

    Publications
    for STX11 gene

    (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 41):
    (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. 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)
    6. Cutting edge: syntaxin 11 regulates lymphocyte-mediated secretion and cytotoxicity. (PubMed id 17785771)1, 9 Arneson L.N....Leibson P.J. (2007)
    7. 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)
    8. STX11 mutations and clinical phenotypes of familial h emophagocytic lymphohistiocytosis in North America. (PubMed id 20486178)1, 9 Marsh R.A....Zhang K. (2010)
    9. Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people. (PubMed id 16180048)1, 9 Yamamoto K....Yasukawa M. (2005)
    10. Familial hemophagocytic lymphohistiocytosis type 5 (F HL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. (PubMed id 19804848)1, 9 zur Stadt U....Hennies H.C. (2009)

    External Searches for STX11 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing STX11 gene

    (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

    Other Databases showing STX11 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing STX11 gene

    (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

    Intellectual Property
    for STX11 gene

    (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:
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