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

STXBP2 Gene

protein-coding   GIFtS: 64
GCID: GC19P007701

syntaxin binding protein 2
 Explore 7 diseases affiliated with
STXBP2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for STXBP2    

Aliases
for STXBP2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Syntaxin Binding Protein 21 2     Pp101221
UNC18B1 2 3 5     Syntaxin-Binding Protein 22
Hunc18b1 2     Unc-18B3
Protein Unc-18 Homolog B2 3     Unc-18B3
FHL52 5     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


Summaries
for STXBP2 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 STXBP2:
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)

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)


Genomic Views
for STXBP2 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_000019.9  NC_018930.1  NT_077812.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for STXBP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 7,701,991 bp from pter      End:
 7,712,759 bp from pter
Size:
 10,769 bases      Orientation:
 plus strand

Proteins
for STXBP2 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: 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
Secondary accessions: Q9BU65
Alternative splicing: 2 isoforms:  Q15833-1   Q15833-2   

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15833

    • STXBP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000221283   ENSP00000409471   ENSP00000413606  

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    Uscn Proteins for STXBP2

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol IDA18588921
    GO:0005886plasma membrane IDA18588921
    GO:0016324apical plasma membrane IEA--
    GO:0030027lamellipodium ----


    STXBP2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for STXBP2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    STXBP2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001619 Sec1-like

    Graphical View of Domain Structure for InterPro Entry Q15833

    ProtoNet protein and cluster: Q15833

    1 Blocks protein family: IPB001619 Sec1-like protein

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


    Function
    for STXBP2 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: 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

    miRNA
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    Gene Editing
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    Clone
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    LifeMap BioReagents: cell line associated with STXBP2: PureStem ES-210, Ecto-ntu Progenitor

    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19884660
    GO:0017075syntaxin-1 binding IEA--
    GO:0030348syntaxin-3 binding IPI18588921


    STXBP2 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Stxbp2tm1Bdic for STXBP2
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Stxbp2):
     immune system  mortality/aging  respiratory system 

    STXBP2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for STXBP2 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
    1Insulin Signaling
    		Insulin Signaling1.00


    1 BioSystems Pathway for STXBP2 
        Insulin Signaling


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for STXBP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/51 Interacting proteins for STXBP2 (Q158333 ENSP000002212834) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN2Q166373, ENSP000003701194I2D: score=1 STRING: ENSP00000370119
    STX2P328563, ENSP000003425544I2D: score=3 STRING: ENSP00000342554
    GEMIN4P576783, ENSP000003217064I2D: score=2 STRING: ENSP00000321706
    SNRPD2P623163, ENSP000003423744I2D: score=2 STRING: ENSP00000342374
    STXBP3O001863, ENSP000003590254I2D: score=2 STRING: ENSP00000359025
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (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:0010447response to acidity ----
    GO:0015031protein transport IEA--


    STXBP2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for STXBP2 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 STXBP2
    Search CenterWatch for drugs/clinical trials and news about STXBP2 / STXB2 

    Transcripts
    for STXBP2 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 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: AK303701
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000221283(uc002mha.4 uc010dvj.3) ENST00000414284(uc002mhb.4 uc002mhe.1)
    ENST00000441779(uc010xjr.2 uc010dvl.2)

    miRNA
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    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STXBP2
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    Additional cDNA sequence: 

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

    20 DOTS entries:

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

    24/412 AceView cDNA sequences (see all 412):

    CR611383 BE796843 CR613567 BI757108 AU148186 AA029544 BX379368 AU076489 
    BM727413 CR603281 BI908296 CA487723 CB215340 BU599639 AI244426 CB134522 
    AW009489 H40429 CR597245 BM670552 BC002869 BQ877278 AA918022 CR611137 

    GeneLoc Exon Structure

    5/11 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

    Expression
    for STXBP2 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

    STXBP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCAGAGATGA

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

    STXBP2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeHindgutHindgut Endoderm CellsEndoderm
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    BrainChoroid PlexusBrain
    Gut TubeHindgutGut Tube
    Gut TubeMidgutGut Tube
    LiverLiver LobuleLiver
    LungTracheaLung
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See STXBP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for STXBP2

    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

        SABiosciences Expression via Pathway-Focused PCR Array including STXBP2: 
              Diabetes in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for STXBP2 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 STXBP2 gene from 9/33 species (see all 33)    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
    		 --
    		 70(a)
    		 1 ↔ 1
    		 2(102994664-103013216)
    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
    Sec1p1    		 42.3(n)1
    29.91(a)1    		   4(784215-782041)4
    8517421, 4  NP_010448.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons SEC1B6
    KEU6
    (see all 3)    		 SNARE-interacting protein KEULE
    (see all 3)    		 24(a)
    23(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 4(7256538-7261180)
    1(4200876-4206404)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 3)    		 Sec1 family transport protein, putative, expressed...
    Sec1 family transport protein, putative, expressed...
    (see all 3)    		 25(a)
    23(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 6(1899863-1908009)
    2(14936663-14956221)


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

    Paralogs
    for STXBP2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for STXBP2 gene
    STXBP32  STXBP12  
    3 SIMAP similar genes for STXBP2 using alignment to 8 protein entries:     STXB2_HUMAN (see all proteins):
    STXBP1    stxbp1    STXBP3

    STXBP2 for paralogs           About GeneDecksing



    Genomic Variants
    for STXBP2 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

    10/426 NCBI SNPs in STXBP2 are shown (see all 426)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs795883201,2
    		F,--7369894(+) CTAAAA/GTGGAT 2 -- us2k12Minor allele frequency- G:0.03WA EA 238
    rs118798311,2
    		H--7369936(+) tgaaaC/Gccatt 2 -- us2k10--------
    rs7940871,2
    		F,--7370024(+) ggcagG/Cgtgcg 2 -- us2k11Minor allele frequency- C:0.09WA 118
    rs766296621,2
    		--7370415(+) ACCGTA/CCTGGT 2 -- us2k10--------
    rs126110111,2
    		C,H--7370807(+) GGTACC/TTTCAT 2 -- us2k12Minor allele frequency- T:0.00NA 4
    rs735045301,2
    		C,--7370862(+) GTTTGC/TACACA 2 -- us2k12Minor allele frequency- T:0.03WA 120
    rs789786991,2
    		F,--7370914(+) CTGCTG/AGGGCT 2 -- us2k11Minor allele frequency- A:0.05WA 118
    rs739214811,2
    		C,--7371229(+) GACTGA/GATGAA 2 -- us2k12Minor allele frequency- G:0.11WA 120
    rs7940761,2
    		C,F,A,--7371856(+) CACGGG/ACTCTG 2 -- int19Minor allele frequency- A:0.19EA NA MN WA 582
    rs1120406671,2
    		C,--7372094(+) GAGGAG/TGGCAC 2 -- int11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for STXBP2 (7701991 - 7712759 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for STXBP2
         1 CNV: 8863
    Human Gene Mutation Database (HGMD): STXBP2

    Locus Specific Mutation Databases (LSDB): STXBP2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing STXBP2
    DNA2.0 Custom Variant and Variant Library Synthesis for STXBP2

    Disorders / Diseases
    for STXBP2 gene

    (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.)
    About This Section
    STXBP2 for disorders           About GeneDecksing

    OMIM gene information: 601717    OMIM disorders: --

    UniProtKB/Swiss-Prot: STXB2_HUMAN, Q15833
  • Defects in STXBP2 are the cause of familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101].
    • FHL5 is 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

    7 diseases for STXBP2:    About MalaCards
    hemophagocytic lymphohistiocytosis    hemophagocytic lymphohistiocytosis, familial    dysgammaglobulinemia    hypotonia
    ataxia    malaria    neuronitis

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


    Export disorders for STXBP2 gene to outside databases

    Publications
    for STXBP2 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 STXBP2 gene, integrated from 9 sources (see all 45):
    (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. (1996)
    2. Munc18-2 deficiency causes familial hemophagocytic ly mphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. (PubMed id 19884660)1, 2, 9 CA'te M....de Saint Basile G. (2009)
    3. 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, 2, 9 zur Stadt U....Hennies H.C. (2009)
    4. Munc18b/STXBP2 is required for platelet secretion. (PubMed id 22791290)1 Al Hawas R....Whiteheart S.W. (2012)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Novel STXBP2 mutation causing familial hemophagocytic lymphohistiocytosis. (PubMed id 22796692)1 Jain R....Sieni E. (2012)
    7. Familial hemophagocytic lymphohistiocytosis: a model f or understanding the human machinery of cellular cytotoxicity. (PubMed id 21990010)1 Sieni E....Arico M. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Development of classical Hodgkin lymphoma in an adult with biallelic STXBP2 mutations. (PubMed id 23100279)1 Machaczka M....Bryceson Y. (2012)
    10. SAP and XIAP deficiency in hemophagocytic lymphohistio cytosis. (PubMed id 22672194)1 Yang X....Kanegane H. (2012)

    External Searches for STXBP2 gene

    (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)

    Genome Databases showing STXBP2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6813 HGNC: 11445 AceView: STXBP2 Ensembl:ENSG00000076944 euGenes: HUgn6813
    ECgene: STXBP2 H-InvDB: STXBP2

    Other Databases showing STXBP2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing STXBP2 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 STXBP2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for STXBP2 gene

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