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STXBP2 Gene

protein-coding   GIFtS: 67
GCID: GC19P007701

Syntaxin Binding Protein 2

  See STXBP2-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 Binding Protein 21 2     pp101222
UNC18B2 3 5     Syntaxin-Binding Protein 22
Protein Unc-18 Homolog B2 3     unc-18B2
FHL52 5     Unc-18B3
Hunc18b2     Unc18-23
MUNC18-22     Protein Unc-18 Homolog 23
UNC18-22     

External Ids:    HGNC: 114451   Entrez Gene: 68132   Ensembl: ENSG000000769447   OMIM: 6017175   UniProtKB: Q158333   

Export aliases for STXBP2 gene to outside databases

Previous GC identifers: GC19P007660 GC19P007806 GC19P007596 GC19P007608 GC19P007371


(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 STXBP2 Gene:
This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular
trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of
cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic
lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for
this gene. (provided by RefSeq, Jan 2013)

GeneCards Summary for STXBP2 Gene:
STXBP2 (syntaxin binding protein 2) is a protein-coding gene. Diseases associated with STXBP2 include familial hemophagocytic lymphohistiocytosis 5, and coenzyme q10 deficiency, primary, 6. GO annotations related to this gene include syntaxin-3 binding and syntaxin-1 binding. An important paralog of this gene is STXBP3.

UniProtKB/Swiss-Prot: STXB2_HUMAN, Q15833
Function: Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the
granule exocytosis machinery through interaction with soluble N-ethylmaleimide-sensitive factor attachment
protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in
natural killer (NK) cells

Gene Wiki entry for STXBP2 (Syntaxin binding protein 2) 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_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the STXBP2 gene promoter:
         GR   Sp1   GCNF   Lmo2   Nkx2-5   GCNF-1   SEF-1 (1)   STAT3   GR-alpha   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): STXBP2 promoter sequence
   Search Chromatin IP Primers for STXBP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat STXBP2


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

Entrez Gene cytogenetic band: 19p13.3-p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.3-p13.2

STXBP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STXBP2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P007701:  view genomic region     (about GC identifiers)

Start:
7,701,767 bp from pter      End:
7,712,759 bp from pter
Size:
10,993 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: STXB2_HUMAN, Q15833 (See protein sequence)
Recommended Name: Syntaxin-binding protein 2  
Size: 593 amino acids; 66453 Da
Subunit: Interacts with STX1A, STX2 and STX3 (By similarity). Interacts with STX11
1 PDB 3D structure from and Proteopedia for STXBP2:
4CCA (3D)    
Secondary accessions: Q9BU65
Alternative splicing: 2 isoforms:  Q15833-1   Q15833-2   

Explore the universe of human proteins at neXtProt for STXBP2: NX_Q15833

Explore proteomics data for STXBP2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys13, Lys63, Lys89, Lys208, Lys213, Lys225, Lys320, Lys324, Lys480, Lys560
  • Modification sites at PhosphoSitePlus

  • See STXBP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001120868.1  NP_001258963.1  NP_008880.2  

    ENSEMBL proteins: 
     ENSP00000470313   ENSP00000471161   ENSP00000413606   ENSP00000221283   ENSP00000471327  
     ENSP00000409471   ENSP00000471585   ENSP00000471737   ENSP00000473040   ENSP00000473406  

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    Cloud-Clone Corp. Proteins for STXBP2

     
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    antibodies-online proteins for STXBP2 (5 products) 

     
    antibodies-online peptides for STXBP2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001619 Sec1-like
     IPR027482 Sec-1-like_dom2

    Graphical View of Domain Structure for InterPro Entry Q15833

    ProtoNet protein and cluster: Q15833

    1 Blocks protein domain: IPB001619 Sec1-like protein

    UniProtKB/Swiss-Prot: STXB2_HUMAN, Q15833
    Similarity: Belongs to the STXBP/unc-18/SEC1 family


    Find genes that share domains with STXBP2           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: STXB2_HUMAN, Q15833
    Function: Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the
    granule exocytosis machinery through interaction with soluble N-ethylmaleimide-sensitive factor attachment
    protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in
    natural killer (NK) cells

         Genatlas biochemistry entry for STXBP2:
    syntaxin binding protein 2,expressed predominantly in placenta,lung,liver,kidney,pancreas,soluble N
    ethylmaleimide-sensitive factor-attachment protein receptor,SNARE protein

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19804848
    GO:0017075syntaxin-1 binding IEA--
    GO:0030348syntaxin-3 binding IPI18588921
         
    Find genes that share ontologies with STXBP2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for STXBP2:
     Increased S DNA content, incre  Increased homologous recombina 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Stxbp2):
     hematopoietic system  immune system  mortality/aging  respiratory system 

    Find genes that share phenotypes with STXBP2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Stxbp2tm1Bdic for STXBP2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for STXBP2
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    miRNA
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    miRTarBase miRNAs that target STXBP2:
    hsa-mir-155-5p (MIRT020657)

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    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    lysosome5
    plasma membrane5
    vacuole5
    endoplasmic reticulum1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IDA18588921
    GO:0005886plasma membrane IDA18588921
    GO:0016324apical plasma membrane IEA--
    GO:0031201colocalizes with SNARE complex IDA12773094
    GO:0042581specific granule IDA18588921

    Find genes that share ontologies with STXBP2           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 STXBP2 About    
    See pathways by source

    SuperPathContained pathways About
    1Insulin Signaling
    Insulin Signaling


    1 BioSystems Pathway for STXBP2
        Insulin Signaling



        Pathway & Disease-focused RT2 Profiler PCR Array including STXBP2: 
              Diabetes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for STXBP2

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

    Selected Interacting proteins for STXBP2 (Q158333 ENSP000002212834) via UniProtKB, MINT, STRING, and/or I2D (see all 138)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN2Q166373, ENSP000003701194I2D: score=1 STRING: ENSP00000370119
    GPIP067443, ENSP000003488774I2D: score=4 STRING: ENSP00000348877
    STX2P328563, ENSP000003425544I2D: score=3 STRING: ENSP00000342554
    GEMIN4P576783, ENSP000003217064I2D: score=2 STRING: ENSP00000321706
    SNRPD2P623163, ENSP000003423744I2D: score=2 STRING: ENSP00000342374
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001909leukocyte mediated cytotoxicity IMP19884660
    GO:0006887exocytosis ----
    GO:0006904vesicle docking involved in exocytosis IEA--
    GO:0015031protein transport IEA--
    GO:0016192vesicle-mediated transport ----

    Find genes that share ontologies with STXBP2           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 STXBP2 (STXB2)



    (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 STXBP2 gene (3 alternative transcripts): 
    NM_001127396.2  NM_001272034.1  NM_006949.3  

    Unigene Cluster for STXBP2:

    Syntaxin binding protein 2
    Hs.515104  [show with all ESTs]
    Unigene Representative Sequence: NM_001272034
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000593535 ENST00000597467 ENST00000595950 ENST00000595181 ENST00000441779(uc010xjr.2 uc010dvl.2)
    ENST00000599905 ENST00000221283(uc002mha.4 uc010dvj.3) ENST00000597068
    ENST00000414284(uc002mhb.4 uc002mhe.1) ENST00000599737 ENST00000599648
    ENST00000594221 ENST00000595861 ENST00000600702 ENST00000599400 ENST00000593854
    ENST00000595800 ENST00000599558
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      QuantiTect SYBR Green Assays in human, mouse, rat STXBP2
      QuantiFast Probe-based Assays in human, mouse, rat STXBP2

    Additional mRNA sequence: 

    AB002559.1 AK222967.1 AK222977.1 AK302257.1 AK303701.1 AK314230.1 BC002869.2 BT006915.1 
    NR_073560.1 U63533.1 

    22 DOTS entries:

    DT.214310  DT.100886833  DT.121418814  DT.100886825  DT.40131725  DT.75170587  DT.92437534  DT.100764705 
    DT.95150021  DT.100721479  DT.100886835  DT.100886836  DT.121418793  DT.121418811  DT.121418812  DT.95316696 
    DT.100815215  DT.102842795  DT.121418842  DT.86841077  DT.91667048  DT.97772727 

    Selected AceView cDNA sequences (see all 412):

    AI292038 CA445062 AA918022 AI084544 BQ897736 BE796843 AW004753 BI771907 
    AI244426 BM670552 AA662656 AA873880 AL557482 CR611383 CD722977 CR625756 
    BE612360 H40429 BM700439 CA487723 AI201852 BQ648759 BM553234 CR620863 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for STXBP2 (see all 11)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d · 15e ^
    SP1:                                            -     -                                                                             -     -     -               
    SP2:                                            -     -           -                                                                 -     -     -               
    SP3:                                -           -     -                                                                                                         
    SP4:                                                                                                                                -     -                     
    SP5:                                                                                                                                -     -     -               

    ExUns: 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20
    SP1:        -           -                     
    SP2:        -           -                     
    SP3:                                          
    SP4:                                          
    SP5:        -           -           -         


    ECgene alternative splicing isoforms for STXBP2

    (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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    STXBP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGAGATGA
    STXBP2 Expression
    About this image


    STXBP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Lung (Respiratory System)
             Trachea
     
     Thymus (Hematopoietic System)
             Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Liver (Hepatobiliary System)
             Liver Lobule
    STXBP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    STXBP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515104

    UniProtKB/Swiss-Prot: STXB2_HUMAN, Q15833
    Tissue specificity: Placenta, lung, liver, kidney and pancreas, as well as in peripheral blood lymphocytes

        Pathway & Disease-focused RT2 Profiler PCR Array including STXBP2: 
              Diabetes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STXBP2

    (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 STXBP2 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Stxbp21 , 5 syntaxin binding protein 21, 5 87.8(n)1
    94.77(a)1
      8 (1.92 cM)5
    209111  NM_011503.41  NP_035633.11 
     36309555 
    lizard
    (Anolis carolinensis)
    Reptilia STXBP26
    syntaxin binding protein 2
    71(a)
    1 ↔ 1
    2(102976595-103015462)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.302982 Xenopus laevis transcribed sequence with weak similarity more 79.78(n)    BI348056.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.77752 Transcribed sequence with weak similarity to protein more 74.87(n)    CD760402.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rop3 neurotransmitter secretion SNARE
    binding
    54(a)   64A8   --
    worm
    (Caenorhabditis elegans)
    Secernentea unc-183 Acetylcholine regulator unc-18 53(a)
    (best of 2)
      X(7718177-7720481)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC1(YDR164C)4
    SEC11
    Sm-like protein involved in docking and fusion of exocytic more4
    SEC11
    42.63(n)1
    30.02(a)1
      4(784215-782041)4
    8517421, 4  NP_010448.11, 4 


    ENSEMBL Gene Tree for STXBP2 (if available)
    TreeFam Gene Tree for STXBP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for STXBP2 gene
    STXBP32  STXBP12  
    4 SIMAP similar genes for STXBP2 using alignment to 9 protein entries:     STXB2_HUMAN (see all proteins):
    STXBP1    stxbp1    STXBP3    SCFD1

    Find genes that share paralogs with STXBP2           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 STXBP2 (see all 597)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0638144
    Familial hemophagocytic lymphohistiocytosis 5 (FHL5)4--see VAR_0638142 L P mis40--------
    VAR_0638174
    Familial hemophagocytic lymphohistiocytosis 5 (FHL5)4--see VAR_0638172 R Q mis40--------
    VAR_0638194
    Familial hemophagocytic lymphohistiocytosis 5 (FHL5)4--see VAR_0638192 P L mis40--------
    VAR_0638164
    Familial hemophagocytic lymphohistiocytosis 5 (FHL5)4--see VAR_0638162 R H mis40--------
    VAR_0638184
    Familial hemophagocytic lymphohistiocytosis 5 (FHL5)4--see VAR_0638182 R W mis40--------
    rs1171654611,2
    F--7639294(+) TCAGGC/GTGAGA 4 -- us2k11Minor allele frequency- G:0.01NA 120
    rs1461758761,2
    --7639304(+) AAGCTA/GGAGGC 4 -- us2k10--------
    rs795883201,2
    C,F--7639419(+) CTAAAA/GTGGAT 4 -- us2k12Minor allele frequency- G:0.03WA EA 238
    rs118798311,2
    H--7639461(+) tgaaaC/Gccatt 4 -- us2k10--------
    rs7940871,2
    F--7639549(+) ggcagG/Cgtgcg 4 -- us2k11Minor allele frequency- C:0.09WA 118

    HapMap Linkage Disequilibrium report for STXBP2 (7701767 - 7712759 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for STXBP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718098CNV Deletion23290073
    nsv910970CNV Loss21882294
    nsv910979CNV Loss21882294
    nsv833731CNV Loss17160897
    esv2751809CNV Gain17911159

    Human Gene Mutation Database (HGMD): STXBP2
    Locus Specific Mutation Databases (LSDB): STXBP2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing STXBP2
    DNA2.0 Custom Variant and Variant Library Synthesis for STXBP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601717   
    OMIM disorders: 613101  
    UniProtKB/Swiss-Prot: STXB2_HUMAN, Q15833
  • Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101]: 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 STXBP2:    
    About MalaCards
    familial hemophagocytic lymphohistiocytosis 5    coenzyme q10 deficiency, primary, 6    hemophagocytic lymphohistiocytosis, familial, 4    hemophagocytic lymphohistiocytosis, familial
    hemophagocytic lymphohistiocytosis

    1 disease from the University of Copenhagen DISEASES database for STXBP2:
    Hemophagocytic lymphohistiocytosis

    Find genes that share disorders with STXBP2           About GenesLikeMe

    GeneTests: STXBP2
    GeneReviews: STXBP2

    Export disorders for STXBP2 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 STXBP2 gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with STXBP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of a nonneuronal human UNC18 homolog. (PubMed id 8921365)1, 2, 3, 9 Ziegler S.F.... Mulligan J.T. (Genomics 1996)
    2. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. (PubMed id 19884660)1, 2, 9 Cote M.... de Saint Basile G. (J. Clin. Invest. 2009)
    3. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. (PubMed id 19804848)1, 2, 9 zur Stadt U.... Hennies H.C. (Am. J. Hum. Genet. 2009)
    4. Syntaxin binding mechanism and disease-causing mutations in Munc18-2. (PubMed id 24194549)1 Hackmann Y....Griffiths G.M. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    5. Development of classical Hodgkin's lymphoma in an adult with biallelic STXBP2 mutations. (PubMed id 23100279)1 Machaczka M....Bryceson Y.T. (Haematologica 2013)
    6. Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations. (PubMed id 23687090)1 Zhao X.W....van den Berg T.K. (Blood 2013)
    7. Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations. (PubMed id 23382066)1 Stepensky P....Posovszky C. (amp 2013)
    8. Crucial role of the hydrophobic pocket region of Munc18 protein in mast cell degranulation. (PubMed id 23487749)1 Bin N.R....Sugita S. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    9. Munc18b/STXBP2 is required for platelet secretion. (PubMed id 22791290)1 Al Hawas R....Whiteheart S.W. (Blood 2012)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (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: 6813 HGNC: 11445 AceView: STXBP2 Ensembl:ENSG00000076944 euGenes: HUgn6813
    ECgene: STXBP2 H-InvDB: STXBP2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for STXBP2 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for STXBP2 gene:
    Search GeneIP for patents involving STXBP2

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



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