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SNAP23 Gene

protein-coding   GIFtS: 65
GCID: GC15P042787

Synaptosomal-Associated Protein, 23kDa

(Previous names: synaptosomal-associated protein, 23kD)
  See SNAP23-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
Synaptosomal-Associated Protein, 23kDa1 2     HsT170162
Vesicle-Membrane Fusion Protein SNAP-232 3     SNAP23A2
SNAP-232 3     SNAP23B2
Synaptosomal-Associated Protein, 23kD1     Synaptosomal-Associated Protein 232

External Ids:    HGNC: 111311   Entrez Gene: 87732   Ensembl: ENSG000000925317   OMIM: 6025345   UniProtKB: O001613   

Export aliases for SNAP23 gene to outside databases

Previous GC identifers: GC15P038155 GC15P035683 GC15P040366 GC15P040503 GC15P040575 GC15P019635


(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 SNAP23 Gene:
Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane
protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins,
together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site
for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in
vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain,
suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane
fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and
binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity
receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and
fusion. Two alternative transcript variants encoding different protein isoforms have been described for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for SNAP23 Gene:
SNAP23 (synaptosomal-associated protein, 23kDa) is a protein-coding gene. Diseases associated with SNAP23 include botulism, and congenital dyserythropoietic anemia type i. An important paralog of this gene is SNAP25.

UniProtKB/Swiss-Prot: SNP23_HUMAN, O00161
Function: Essential component of the high affinity receptor for the general membrane fusion machinery and an
important regulator of transport vesicle docking and fusion

Gene Wiki entry for SNAP23 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_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SNAP23 gene promoter:
         COMP1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNAP23 promoter sequence
   Search Chromatin IP Primers for SNAP23

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SNAP23


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

Entrez Gene cytogenetic band: 15q14   Ensembl cytogenetic band:  15q15.1   HGNC cytogenetic band: 15q14

SNAP23 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNAP23 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P042787:  view genomic region     (about GC identifiers)

Start:
42,783,431 bp from pter      End:
42,837,547 bp from pter
Size:
54,117 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: SNP23_HUMAN, O00161 (See protein sequence)
Recommended Name: Synaptosomal-associated protein 23  
Size: 211 amino acids; 23354 Da
Subunit: Homotetramer (via coiled-coil domain), also forms heterotetramers with STX4 and VAMP3. Binds
simultaneously to SNAPIN and SYN4. Found in a complex with VAMP8 and STX4 in pancreas. Interacts with STX1A and
STX12 (By similarity). Binds tightly to multiple syntaxins and synaptobrevins/VAMPs. Found in a complex with
VAMP8 and STX1A
2 PDB 3D structures from and Proteopedia for SNAP23:
1NHL (3D)        3ZUS (3D)    
Secondary accessions: O00162 Q13602 Q6IAE3
Alternative splicing: 2 isoforms:  O00161-1   O00161-2   

Explore the universe of human proteins at neXtProt for SNAP23: NX_O00161

Explore proteomics data for SNAP23 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SNAP23 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_003816.2  NP_570710.1  

    ENSEMBL proteins: 
     ENSP00000454214   ENSP00000454799   ENSP00000457535   ENSP00000249647   ENSP00000455339  
     ENSP00000455472   ENSP00000455652   ENSP00000458012   ENSP00000454842   ENSP00000456035  
     ENSP00000380327   ENSP00000456144   ENSP00000455102   ENSP00000456000   ENSP00000207062  
    Reactome Protein details: O00161

    SNAP23 Human Recombinant Protein Products:

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    Novus Biologicals SNAP23 Proteins
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    Cloud-Clone Corp. Proteins for SNAP23

     
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    antibodies-online proteins for SNAP23 (15 products) 

     
    antibodies-online peptides for SNAP23

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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:
     IPR000928 SNAP-25
     IPR000727 T_SNARE_dom

    Graphical View of Domain Structure for InterPro Entry O00161

    ProtoNet protein and cluster: O00161

    1 Blocks protein domain: IPB000928 SNAP-25 family

    UniProtKB/Swiss-Prot: SNP23_HUMAN, O00161
    Similarity: Belongs to the SNAP-25 family
    Similarity: Contains 2 t-SNARE coiled-coil homology domains


    Find genes that share domains with SNAP23           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: SNP23_HUMAN, O00161
    Function: Essential component of the high affinity receptor for the general membrane fusion machinery and an
    important regulator of transport vesicle docking and fusion

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12773094
         
    Find genes that share ontologies with SNAP23           About GenesLikeMe


    Phenotypes:
         6 GenomeRNAi human phenotypes for SNAP23:
     Decreased POU5F1-GFP protein e  Decreased Salmonella enterica   Increased Erk phosphorylation   Increased S DNA content 
     S arrest  Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Snap23):
     embryogenesis  mortality/aging  no phenotypic analysis 

    Find genes that share phenotypes with SNAP23           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Snap23tm1.1Paro for SNAP23

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SNAP23
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SNAP23

    miRNA
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    miRTarBase miRNAs that target SNAP23:
    hsa-mir-34a-5p (MIRT025561), hsa-let-7b-5p (MIRT001590), hsa-mir-98-5p (MIRT027856), hsa-mir-124-3p (MIRT023206)

    Block miRNA regulation of human, mouse, rat SNAP23 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SNAP23 (see all 25):
    hsa-let-7d hsa-miR-202 hsa-miR-1271 hsa-let-7c hsa-let-7g hsa-miR-9 hsa-let-7a hsa-miR-2115
    SwitchGear 3'UTR luciferase reporter plasmidSNAP23 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SNAP23

    Gene Editing
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    eBioscience FlowRNA Probe Sets ( VA1-12183) for SNAP23 


    (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
    SNP23_HUMAN, O00161: Cell membrane; Peripheral membrane protein. Cell membrane; Lipid-anchor. Cell junction,
    synapse, synaptosome. Note=Mainly localized to the plasma membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    plasma membrane5
    vacuole5
    golgi apparatus4
    nucleus4
    cytosol3
    endosome2
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005794Golgi apparatus ----
    GO:0005886plasma membrane TAS--
    GO:0030054cell junction IEA--

    Find genes that share ontologies with SNAP23           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 SNAP23 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    Membrane Trafficking0.32
    trans-Golgi Network Vesicle Budding0.89
    Translocation of GLUT4 to the Plasma Membrane0.32
    2Regulation of CFTR activity norm and CF
    Regulation of CFTR activity norm and CF 0.38
    wtCFTR and deltaF508 traffic Membrane expression norm and CF 0.38
    3Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    SNARE interactions in vesicular transport0.40
    4Clathrin dependent protein traffic
    wtCFTR and delta508 CFTR traffic Generic schema norm and CF 0.37
    5Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36


    Find genes that share SuperPaths with SNAP23           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SNAP23
        Epithelial Tight Junctions

    3 GeneGo (Thomson Reuters) Pathways for SNAP23
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Regulation of CFTR activity (norm and CF)
    wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)

    1 BioSystems Pathway for SNAP23
        Insulin Signaling

    2 Reactome Pathways for SNAP23
        Clathrin derived vesicle budding
    Translocation of GLUT4 to the plasma membrane


    2 Kegg Pathways  (Kegg details for SNAP23):
        SNARE interactions in vesicular transport
    Insulin secretion

        Pathway & Disease-focused RT2 Profiler PCR Array including SNAP23: 
              Diabetes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SNAP23

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

    Selected Interacting proteins for SNAP23 (O001611, 2, 3 ENSP000002496474) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TLK1Q9UKI82, 3, ENSP000004110994MINT-17055 I2D: score=3 STRING: ENSP00000411099
    MATR3P432432, 3, ENSP000003543464MINT-8271740 I2D: score=2 STRING: ENSP00000354346
    WASH2PQ6VEQ52, 3MINT-8271762 I2D: score=1 
    STX11O755582, 3, ENSP000003565404MINT-8271751 I2D: score=6 STRING: ENSP00000356540
    NAPAP549201, 3, ENSP000002633544EBI-745000,EBI-749652 I2D: score=4 STRING: ENSP00000263354
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006887exocytosis IEA--
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0006903vesicle targeting TAS8663154
    GO:0015031protein transport IEA--
    GO:0061024membrane organization TAS--

    Find genes that share ontologies with SNAP23           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 SNAP23 (SNP23)

    9 Novoseek inferred chemical compound relationships for SNAP23 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    n-ethylmaleimide 54.1 4 15256361 (1), 9614185 (1), 10648404 (1)
    lipid 14.8 13 15542596 (3), 17922004 (2), 12376543 (2), 16439800 (1) (see all 6)
    cysteine 14.5 9 12551899 (3), 15542596 (2), 10329400 (1), 17575076 (1)
    glucose 9.4 9 10329959 (3), 10212832 (1), 17947242 (1), 19754436 (1) (see all 5)
    sucrose 5.95 1 12376543 (1)
    cholesterol 0 7 16439800 (1), 12376543 (1)
    atp 0 1 12494459 (1)
    chloride 0 1 12209004 (1)
    calcium 0 3 14993220 (3)



    Find genes that share compounds with SNAP23           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 SNAP23 gene (2 alternative transcripts): 
    NM_003825.3  NM_130798.2  

    Unigene Cluster for SNAP23:

    Synaptosomal-associated protein, 23kDa
    Hs.511149  [show with all ESTs]
    Unigene Representative Sequence: NM_003825
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000568745 ENST00000561526 ENST00000568227 ENST00000568451 ENST00000563765
    ENST00000249647(uc001zpz.2 uc001zqa.2) ENST00000566141 ENST00000564153
    ENST00000567094 ENST00000568331 ENST00000566327 ENST00000563451 ENST00000566035
    ENST00000568859 ENST00000568514 ENST00000397138 ENST00000563873 ENST00000568841

    miRNA
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    hsa-let-7d hsa-miR-202 hsa-miR-1271 hsa-let-7c hsa-let-7g hsa-miR-9 hsa-let-7a hsa-miR-2115
    SwitchGear 3'UTR luciferase reporter plasmidSNAP23 3' UTR sequence
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    Additional mRNA sequence: 

    AJ011915.1 AK290152.1 AK313161.1 AK315279.1 BC000148.2 BC003686.1 BC022890.1 BT006916.1 
    CR457212.1 U55936.1 Y09567.1 Y09568.1 

    21 DOTS entries:

    DT.100814709  DT.92448105  DT.40237565  DT.100814711  DT.100814708  DT.121079622  DT.121079631  DT.100809878 
    DT.121079597  DT.92448107  DT.100814724  DT.100814727  DT.121079575  DT.95143265  DT.100814712  DT.121079598 
    DT.95143255  DT.100715037  DT.121079633  DT.75175860  DT.121079645 

    Selected AceView cDNA sequences (see all 327):

    AU117614 AL546657 BU154597 AL080028 AA744963 BE906589 CA388983 AL552586 
    BP873439 CA413785 AA743825 CA423177 BC003686 AI564466 AL550305 AI110610 
    BI258743 AA736918 BQ007713 AI126610 AA370433 CA309336 BM468848 AI446339 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SNAP23 (see all 11)    About this scheme

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


    ECgene alternative splicing isoforms for SNAP23

    (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)
    About This Section

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    SNAP23 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTCAGATT
    SNAP23 Expression
    About this image


    SNAP23 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
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)
    SNAP23 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNAP23 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.511149

    UniProtKB/Swiss-Prot: SNP23_HUMAN, O00161
    Tissue specificity: Ubiquitous. Highest levels where found in placenta

        Pathway & Disease-focused RT2 Profiler PCR Array including SNAP23: 
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    (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 SNAP23 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snap231 , 5 synaptosomal-associated protein 231, 5 88.41(n)1
    87.62(a)1
      2 (60.37 cM)5
    206191  NM_001177792.11  NP_001171263.11 
     1205676715 
    chicken
    (Gallus gallus)
    Aves SNAP231 synaptosomal-associated protein, 23kDa 75.76(n)
    77.03(a)
      423235  NM_001199666.1  NP_001186595.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    77(a)
    52(a)
    1 ↔ many
    1 ↔ many
    1(39852054-39868936)
    2(191348119-191348748)
    African clawed frog
    (Xenopus laevis)
    Amphibia AB033718.12   -- 76.28(n)    AB033718.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC045896.12   -- 74.13(n)   393159  BC045896.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Snap253 Golgi to plasma membrane transport
    t-SNARE
    51(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea Y22F5A.33 SNAP-25 family 51(a)   V(10264006-10265432)   --


    ENSEMBL Gene Tree for SNAP23 (if available)
    TreeFam Gene Tree for SNAP23 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SNAP23 gene
    SNAP252  
    1 SIMAP similar gene for SNAP23 using alignment to 12 protein entries:     SNP23_HUMAN (see all proteins):
    SNAP25

    Find genes that share paralogs with SNAP23           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for SNAP23
    PGOHUM00000247557 PGOHUM00000262446


    (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 SNAP23 (see all 733)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3762872951,2
    C--42785531(+) AGACC-/TCCTCTC 2 -- us2k10--------
    rs129126921,2
    C--42785550(+) tctctC/Atctat 2 -- us2k1 trp36Minor allele frequency- A:0.49NA WA 132
    rs25959371,2
    C--42785552(+) tctctA/Ctatat 2 -- us2k1 trp36Minor allele frequency- C:0.17NA WA 132
    rs770951481,2
    F--42785632(+) AGTACC/GCACCC 2 -- us2k11Minor allele frequency- G:0.05WA 118
    rs1503866701,2
    --42785703(+) AAAATC/TGTCCC 2 -- us2k10--------
    rs1808894671,2
    --42785723(+) ACCACA/GGAATT 2 -- us2k10--------
    rs1860908851,2
    --42785760(+) TGAACC/TAATGA 2 -- us2k10--------
    rs1449976511,2
    C--42785785(+) TTTCTC/TCACCT 2 -- us2k10--------
    rs1490729371,2
    --42785860(+) TTTTTA/GCCCAT 2 -- us2k10--------
    rs1431351921,2
    --42786003(+) AAGATA/GACCCC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SNAP23 (42783431 - 42837547 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SNAP23:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1508CNV Insertion18451855
    nsv528725CNV Gain19592680
    nsv832987CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SNAP23
    DNA2.0 Custom Variant and Variant Library Synthesis for SNAP23

    (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: 602534    OMIM disorders: --

    2 diseases for SNAP23:    
    About MalaCards
    botulism    congenital dyserythropoietic anemia type i

    3 diseases from the University of Copenhagen DISEASES database for SNAP23:
    Botulism     Coloboma     Tetanus

    Find genes that share disorders with SNAP23           About GenesLikeMe

    2 Novoseek inferred disease relationships for SNAP23 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tetanus 42.8 2 19910495 (1), 9614185 (1)
    insulin resistance 8.93 3 19754436 (2)

    Genetic Association Database (GAD): SNAP23
    Human Genome Epidemiology (HuGE) Navigator: SNAP23 (2 documents)

    Export disorders for SNAP23 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 SNAP23 gene, integrated from 10 sources (see all 160):
    (articles sorted by number of sources associating them with SNAP23)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of two isoforms of the vesicle-membrane fusion protein SNAP-23 in human neutrophils and HL-60 cells. (PubMed id 9070898)1, 2, 3, 9 Mollinedo F. and Lazo P.A. (Biochem. Biophys. Res. Commun. 1997)
    2. Identification of a novel syntaxin- and synaptobrevin/VAMP-binding protein, SNAP-23, expressed in non-neuronal tissues. (PubMed id 8663154)1, 2, 3, 9 Ravichandran V.... Roche P.A. (J. Biol. Chem. 1996)
    3. Genomic organization, chromosomal localization, alternative splicing, and isoforms of human Synaptosome associated protein-23 gene implicated in vesicle-membrane fusion. (PubMed id 11354632)1, 2, 9 Lazo P.A.... Estivill X. (Hum. Genet. 2001)
    4. Homotetrameric structure of the SNAP-23 N-terminal coiled-coil domain. (PubMed id 12556468)1, 2, 9 Freedman S.J.... Eck M.J. (J. Biol. Chem. 2003)
    5. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PubMed id 20416077)1, 4 Ban H.J....Park K.J. (BMC Genet. 2010)
    6. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    9. Vesicle-associated membrane protein 3 (VAMP-3) and VAMP-8 are present in human platelets and are required for granule secretion. (PubMed id 12130530)1, 2 Polgar J.... Reed G.L. (Blood 2002)
    10. Phosphorylation of SNAP-23 in activated human platelets. (PubMed id 12930825)1, 9 PolgA!r J....Reed G.L. (J. Biol. Chem. 2003)

    (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: 8773 HGNC: 11131 AceView: SNAP23 Ensembl:ENSG00000092531 euGenes: HUgn8773
    ECgene: SNAP23 Kegg: 8773 H-InvDB: SNAP23

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SNAP23 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SNAP23 gene:
    Search GeneIP for patents involving SNAP23

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



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