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STX2 Gene

protein-coding   GIFtS: 62
GCID: GC12M131274

Syntaxin 2

(Previous name: epimorphin)
(Previous symbols: STX2B, STX2C, STX2A, EPIM)
  See STX2-related disease
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 21 2     epimorphin1 2
EPIM1 2 3 5     EPM2
STX2A1 2 3 5     syntaxin-22
STX2B1 2 3 5     Epimorphin3
STX2C1 2 3 5     

External Ids:    HGNC: 34031   Entrez Gene: 20542   Ensembl: ENSG000001114507   OMIM: 1323505   UniProtKB: P328563   

Export aliases for STX2 gene to outside databases

Previous GC identifers: GC12M129840 GC12M128256


(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 STX2 Gene:
The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein
family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene
regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively
spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for STX2 Gene:
STX2 (syntaxin 2) is a protein-coding gene. Diseases associated with STX2 include type 1 von willebrand disease. GO annotations related to this gene include calcium-dependent protein binding and SNAP receptor activity. An important paralog of this gene is STX1A.

UniProtKB/Swiss-Prot: STX2_HUMAN, P32856
Function: Essential for epithelial morphogenesis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction
in sperm

Gene Wiki entry for STX2 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_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the STX2 gene promoter:
         GR   AP-1   ATF-2   GR-alpha   c-Jun   NF-kappaB1   C/EBPalpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for STX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat STX2


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

Entrez Gene cytogenetic band: 12q24.33   Ensembl cytogenetic band:  12q24.33   HGNC cytogenetic band: 12q24

STX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STX2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M131274:  view genomic region     (about GC identifiers)

Start:
131,274,145 bp from pter      End:
131,323,811 bp from pter
Size:
49,667 bases      Orientation:
minus 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: STX2_HUMAN, P32856 (See protein sequence)
Recommended Name: Syntaxin-2  
Size: 288 amino acids; 33341 Da
Subunit: Interacts with SYT6 and SYT8; the interaction is Ca(2+)-dependent (By similarity)
Sequence caution: Sequence=BAA03436.1; Type=Frameshift; Positions=Several;
Secondary accessions: Q86VW8
Alternative splicing: 3 isoforms:  P32856-1   P32856-2   P32856-3   

Explore the universe of human proteins at neXtProt for STX2: NX_P32856

Explore proteomics data for STX2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See STX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_919337.1  NP_001971.2  

    ENSEMBL proteins: 
     ENSP00000261653   ENSP00000376178   ENSP00000342554  

    STX2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for STX2 (Epimorphin/Syntaxin 2)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for STX2
    OriGene Protein Over-expression Lysate for STX2
    OriGene MassSpec for STX2
    OriGene Custom Protein Services for STX2
    GenScript Custom Purified and Recombinant Proteins Services for STX2
    Novus Biologicals STX2 Proteins
    Novus Biologicals STX2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for STX2
    Cloud-Clone Corp. Proteins for STX2

     
    Search eBioscience for Proteins for STX2 

    STX2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of STX2
    R&D Systems Antibodies for STX2 (Epimorphin/Syntaxin 2)
    OriGene Antibodies for STX2
    OriGene Custom Antibody Services for STX2
    Novus Biologicals STX2 Antibodies
    Abcam antibodies for STX2 (Q16623, Q13277, P61266, P32856)
    Cloud-Clone Corp. Antibodies for STX2
    ThermoFisher Antibodies for STX2
    LSBio Antibodies in human, mouse, rat for STX2

    STX2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for STX2
    Cloud-Clone Corp. CLIAs for STX2
    Search eBioscience for ELISAs for STX2 


    (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
     IPR006011 Syntaxin_N
     IPR006012 Syntaxin/epimorphin_CS
     IPR028671 STX2

    Graphical View of Domain Structure for InterPro Entry P32856

    ProtoNet protein and cluster: P32856

    1 Blocks protein domain: IPB006011 Syntaxin

    UniProtKB/Swiss-Prot: STX2_HUMAN, P32856
    Similarity: Belongs to the syntaxin family
    Similarity: Contains 1 t-SNARE coiled-coil homology domain


    Find genes that share domains with STX2           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: STX2_HUMAN, P32856
    Function: Essential for epithelial morphogenesis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction
    in sperm

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005484SNAP receptor activity IEA--
    GO:0005515protein binding IPI12773094
    GO:0048306calcium-dependent protein binding ISS--
         
    Find genes that share ontologies with STX2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for STX2:
     Increased G1 DNA content 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Stx2):
     digestive/alimentary  endocrine/exocrine gland  hematopoietic system  immune system  liver/biliary system 
     reproductive system 

    Find genes that share phenotypes with STX2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for STX2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for STX2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for STX2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for STX2

    miRNA
    Products:
        
    miRTarBase miRNAs that target STX2:
    hsa-mir-124-3p (MIRT002690), hsa-mir-3200-3p (MIRT052827)

    Block miRNA regulation of human, mouse, rat STX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate STX2 (see all 20):
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-520d-5p hsa-miR-485-3p hsa-miR-200a hsa-miR-30d hsa-miR-944 hsa-miR-520a-5p
    SwitchGear 3'UTR luciferase reporter plasmidSTX2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for STX2
    Predesigned siRNA for gene silencing in human, mouse, rat STX2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for STX2 (see all 11)
    OriGene ORF clones in mouse, rat for STX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): STX2 (NM_001980)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STX2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for STX2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STX2


    (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
    STX2_HUMAN, P32856: Membrane; Single-pass type IV membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol3
    extracellular2
    cytoskeleton1
    endoplasmic reticulum1
    endosome1
    golgi apparatus1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005911cell-cell junction IEA--
    GO:0009986cell surface IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0016323basolateral plasma membrane IDA16339081

    Find genes that share ontologies with STX2           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 STX2 About    
    See pathways by source

    SuperPathContained pathways About
    1Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    Synaptic vesicle cycle0.50
    2Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics0.44
    SNARE interactions in vesicular transport0.40
    3Transmission across Chemical Synapses
    Neuronal System0.68
    4Disease
    Disease


    Find genes that share SuperPaths with STX2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for STX2
        Epithelial Tight Junctions

    1 BioSystems Pathway for STX2
        Synaptic Vesicle Pathway

    1 PharmGKB Pathway for STX2
        Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

    2 Kegg Pathways  (Kegg details for STX2):
        SNARE interactions in vesicular transport
    Synaptic vesicle cycle

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for STX2
    Interactions:

        GeneGlobe Interaction Network for STX2

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

    Selected Interacting proteins for STX2 (P328563 ENSP000003425544) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STXBP1P617643, ENSP000003623994I2D: score=3 STRING: ENSP00000362399
    CPLX2Q6PUV43, ENSP000003525444I2D: score=1 STRING: ENSP00000352544
    STXBP3O001863, ENSP000003590254I2D: score=1 STRING: ENSP00000359025
    SYT4Q9H2B23, ENSP000002552244I2D: score=1 STRING: ENSP00000255224
    SYT7O435813, ENSP000002638464I2D: score=1 STRING: ENSP00000263846
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0007165signal transduction TAS1581962
    GO:0007340acrosome reaction ISS--
    GO:0007398ectoderm development TAS8466509
    GO:0009887organ morphogenesis TAS1581962

    Find genes that share ontologies with STX2           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 STX2

    4 Novoseek inferred chemical compound relationships for STX2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurotoxin c 85.5 2 17544372 (1), 10428873 (1)
    n-ethylmaleimide 60.1 4 15943887 (2), 10648404 (1)
    atp 0 1 14744991 (1)
    calcium 0 2 18273050 (1), 19487699 (1)



    Find genes that share compounds with STX2           About GenesLikeMe



    (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 STX2 gene (2 alternative transcripts): 
    NM_194356.2  NM_001980.3  

    Unigene Cluster for STX2:

    Syntaxin 2
    Hs.437585  [show with all ESTs]
    Unigene Representative Sequence: NM_194356
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261653(uc001uio.3 uc001uip.3 uc010tbj.2) ENST00000392373
    ENST00000540889 ENST00000344271
    miRNA
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    Block miRNA regulation of human, mouse, rat STX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate STX2 (see all 20):
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-520d-5p hsa-miR-485-3p hsa-miR-200a hsa-miR-30d hsa-miR-944 hsa-miR-520a-5p
    SwitchGear 3'UTR luciferase reporter plasmidSTX2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat STX2
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): STX2 (NM_001980)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STX2
    Primer
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    OriGene qPCR primer pairs and template standards for STX2
    OriGene qSTAR qPCR primer pairs in human, mouse for STX2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat STX2
      QuantiTect SYBR Green Assays in human, mouse, rat STX2
      QuantiFast Probe-based Assays in human, mouse, rat STX2

    Additional mRNA sequence: 

    AF052181.1 BC047496.1 

    8 DOTS entries:

    DT.315289  DT.40249022  DT.100752077  DT.100702434  DT.95364962  DT.100752079  DT.75186765  DT.95357207 

    Selected AceView cDNA sequences (see all 122):

    BM806537 AA056536 NM_001980 BU740483 AA419510 AI222817 F06954 F03221 
    BU674471 CA775942 F01727 NM_194356 AI494425 AI203899 AI143391 CR613802 
    BM460547 AI275471 AI568434 BM127466 AI765817 BQ269018 CF528729 Z42199 

    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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    STX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTACATTAA
    STX2 Expression
    About this image


    STX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Dermis (Integumentary System)    fully expand to see all 4 entries
             Dermal Condensate Cells Dermal Papilla
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
    STX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    STX2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.437585
        Custom PCR Arrays for STX2
    Primer
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    OriGene qPCR primer pairs and template standards for STX2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STX2

    (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.

    Orthologs for STX2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Stx21 , 5 syntaxin 21, 5 84.95(n)1
    89.58(a)1
      5 (67.99 cM)5
    138521  NM_007941.31  NP_031967.21 
     1289845575 
    chicken
    (Gallus gallus)
    Aves STX26
    Gallus gallus syntaxin 2 (STX2), mRNA.
    67(a)
    1 ↔ 1
    15(2912110-3202073)
    lizard
    (Anolis carolinensis)
    Reptilia STX26
    syntaxin 2
    69(a)
    1 ↔ 1
    LGb(3410-22481)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.159652 Transcribed sequence with moderate similarity to protein more 74.73(n)    141990898 
    zebrafish
    (Danio rerio)
    Actinopterygii stx2b1 syntaxin 2b 65.04(n)
    64.81(a)
      100536636  XM_003199129.2  XP_003199177.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Syx1A6
    Syntaxin 1A
    57(a)
    1 → many
    3R(19927322-19931465)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-646
    Protein UNC-64, isoform a (unc-64) mRNA, complete ...
    52(a)
    1 → many
    III(13277261-13284364) WBGene00006798


    ENSEMBL Gene Tree for STX2 (if available)
    TreeFam Gene Tree for STX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for STX2 gene
    STX1A2  STX112  STX1B2  STX32  STX192  STX42  
    10 SIMAP similar genes for STX2 using alignment to 2 protein entries:     STX2_HUMAN (see all proteins):
    DKFZp686L1857    stx1c    STX3    STX1A    STX1B    STX3A
    STX4A    STX4    STX19    STX11

    Find genes that share paralogs with STX2           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 STX2 (see all 1283)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1919449711,2
    --131273755(+) TTTTTC/TTTCAA 2 -- ds50010--------
    rs734579191,2
    C,F--131273862(+) GTATAG/AAGGAT 2 -- ds50012Minor allele frequency- A:0.04WA 120
    rs803178871,2
    C,F--131273890(+) GGGGCG/AGGGAG 2 -- ds50011Minor allele frequency- A:0.01NA 120
    rs100831741,2
    C,A--131273905(+) CCCCAT/CTAACA 2 -- ds50013Minor allele frequency- C:0.07NA WA 240
    rs734579211,2
    C,F--131273983(+) GACTTG/CGTATC 2 -- ds50013Minor allele frequency- C:0.07WA EA 240
    rs734579231,2
    C--131274138(+) CCACAA/CGAGCA 2 -- ds50014Minor allele frequency- C:0.13WA EA 242
    rs731628511,2
    C--131274155(+) CTAGTA/TGAACA 2 -- ut310--------
    rs12361,2
    C,F,A,H--131274394(+) TCTAAT/ATACAA 2 -- ut3121Minor allele frequency- A:0.43NS MN NA EA 1090
    rs1471215691,2
    C--131274463(+) AATCT-/AAGAAGAA 2 -- cds10--------
    rs755198141,2
    --131274470(+) GAAGAG/ATAACT 2 -- ut311Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for STX2 (131274145 - 131323811 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for STX2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv939CNV Insertion18451855
    nsv527536CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing STX2
    DNA2.0 Custom Variant and Variant Library Synthesis for STX2

    (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: 132350    OMIM disorders: --

    1 disease for STX2:    
    About MalaCards
    type 1 von willebrand disease

    3 diseases from the University of Copenhagen DISEASES database for STX2:
    Anemia     Diarrhea     Kidney failure

    Find genes that share disorders with STX2           About GenesLikeMe

    2 Novoseek inferred disease relationships for STX2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colitis ulcerative 3.23 1 12702050 (1)
    inflammatory bowel diseases 0.74 2 12702050 (1), 14654971 (1)

    Human Genome Epidemiology (HuGE) Navigator: STX2 (1 document)

    Export disorders for STX2 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 STX2 gene, integrated from 10 sources (see all 111):
    (articles sorted by number of sources associating them with STX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Localization of plasma membrane t-SNAREs syntaxin 2 and 3 in intracellular compartments. (PubMed id 15943887)1, 3, 9 Band A.M. and Kuismanen E. (BMC Cell Biol. 2005)
    2. Molecular cloning of human epimorphin: identification of isoforms and their unique properties. (PubMed id 8466509)1, 2, 9 Hirai Y. (Biochem. Biophys. Res. Commun. 1993)
    3. The epimorphin gene is highly conserved among humans, mice, and rats and maps to human chromosome 7, mouse chromosome 5, and rat chromosome 12. (PubMed id 8938452)1, 3, 9 Zha H....Wilder R.L. (Genomics 1996)
    4. 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)
    5. Homology with vesicle fusion mediator syntaxin-1a predicts determinants of epimorphin/syntaxin-2 function in mammary epithelial morphogenesis. (PubMed id 19129200)1, 9 Chen C.S....Radisky D.C. (J. Biol. Chem. 2009)
    6. Epimorphin expression in interstitial pneumonia. (PubMed id 15651999)1, 9 Terasaki Y....Takeya M. (Respir. Res. 2005)
    7. Overexpression of extracellular epimorphin leads to impaired epidermal differentiation in HaCaT keratinocytes. (PubMed id 18273050)1, 9 Okugawa Y. and Hirai Y. (J. Invest. Dermatol. 2008)
    8. Epimorphin functions as a key morphoregulator for mammary epithelial cells. (PubMed id 9425164)1, 9 Hirai Y....Bissell M.J. (J. Cell Biol. 1998)
    9. Identification of cellular recognition sequence of epimorphin and critical role of cell/epimorphin interaction in lung branching morphogenesis. (PubMed id 9177305)1, 9 Koshida S. and Hirai Y. (Biochem. Biophys. Res. Commun. 1997)
    10. Inductive influences of epimorphin on endothelial cells in vitro. (PubMed id 8549663)1, 9 Oka Y. and Hirai Y. (Exp. Cell Res. 1996)

    (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)
    About This Section

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    Entrez Gene: 2054 HGNC: 3403 AceView: EPIM Ensembl:ENSG00000111450 euGenes: HUgn2054
    ECgene: STX2 Kegg: 2054 H-InvDB: STX2

    (According to HUGE)
    About This Section

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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 STX2 Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for STX2 gene:
    Search GeneIP for patents involving STX2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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