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

SNAPIN Gene

protein-coding   GIFtS: 61
GCID: GC01P153631

SNAP-Associated Protein


(Previous symbol: SNAPAP)
  See 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)
About This Section

Aliases
SNAP-Associated Protein1 2 3     snapin1
SNAPAP1 2 3 5     Subunit 71
SNAP-25-Binding Protein1 2     BLOS72
Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 72 3     Biogenesis Of Lysosomal Organelles Complex-1, Subunit 72
Synaptosomal-Associated Protein 25-Binding Protein2 3     SNARE Associated Protein Snapin2
BLOC1S72 3     SNARE-Associated Protein Snapin2
BLOC-1 Subunit 72 3     SNAP25BP3
Biogenesis Of Lysosomal Organelles Complex-11     

External Ids:    HGNC: 171451   Entrez Gene: 235572   Ensembl: ENSG000001435537   OMIM: 6070075   UniProtKB: O952953   

Export aliases for SNAPIN gene to outside databases

Previous GC identifers: GC01P151898 GC01P124994


(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 SNAPIN Gene:
The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble
N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1
(biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding
partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates
neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as
melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been
identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Jun 2012)

GeneCards Summary for SNAPIN Gene: 
SNAPIN (SNAP-associated protein) is a protein-coding gene. Diseases associated with SNAPIN include tricuspid valve stenosis, and platelet storage pool deficiency, and among its related super-pathways are Golgi Associated Vesicle Biogenesis and Translocation of GLUT4 to the Plasma Membrane. GO annotations related to this gene include protein binding and SNARE binding.

UniProtKB/Swiss-Prot: SNAPN_HUMAN, O95295
Function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related
organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1
complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into
neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be
involved in neurite extension. Plays a role in intracellular vesicle trafficking. May modulate a step between
vesicle priming, fusion and calcium-dependent neurotransmitter release through its ability to potentiate the
interaction of synaptotagmin with the SNAREs and the plasma-membrane-associated protein SNAP25. Its
phosphorylation state influences exocytotic protein interactions and may regulate synaptic vesicle exocytosis.
May also have a role in the mechanisms of SNARE-mediated membrane fusion in non-neuronal cells

Gene Wiki entry for SNAPIN (SNAPAP) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SNAPIN gene promoter:
         Max1   E2F-1   E2F   Sp1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNAPIN promoter sequence
   Search SABiosciences Chromatin IP Primers for SNAPIN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNAPIN


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

Entrez Gene cytogenetic band: 1q21.3   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q22

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P153631:  view genomic region     (about GC identifiers)

Start:
153,631,130 bp from pter      End:
153,634,326 bp from pter
Size:
3,197 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SNAPN_HUMAN, O95295 (See protein sequence)
Recommended Name: SNARE-associated protein Snapin  
Size: 136 amino acids; 14874 Da
Subunit: Interacts with CSNK1D, SNAP23 and STX4A but not with STX1A, VAMP2 and SYT1. Interacts with SNAP25; the
interaction with SNAP25 is increased by its phosphorylation (By similarity). Component of the biogenesis of
lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6,
DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5,
BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and
membrane protein cargos. Associates with the SNARE complex. Interacts with CEP110, NANOS1, PUM2 and RGS7.
Interacts with human cytomegalovirus/HHV-5 protein UL70
Subcellular location: Cytoplasm (By similarity). Membrane; Peripheral membrane protein; Cytoplasmic side (By
similarity). Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side (By similarity).
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmic side
(Potential). Cell junction, synapse, synaptosome. Cytoplasm, perinuclear region. Golgi apparatus membrane (By
similarity). Note=May be cytoplasmic and peripheral membrane bound or anchored to the vesicular membrane through
an N-terminal signal anchor (By similarity). Co-localizes with NANOS1 and PUM2 in the perinuclear region of germ
cells
Developmental stage: Expressed in germ cells of 22-week prenatal testis
Secondary accessions: D3DV56 Q5SXU8

Explore the universe of human proteins at neXtProt for SNAPIN: NX_O95295

Explore proteomics data for SNAPIN at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by CSNK1D/CK1 (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95295

  • SNAPIN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SNAPIN Protein Expression
    REFSEQ proteins: NP_036569.1  
    ENSEMBL proteins: 
     ENSP00000357674  
    Reactome Protein details: O95295
    Human Recombinant Protein Products for SNAPIN: 
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    Novus Biologicals SNAPIN Proteins
    Novus Biologicals SNAPIN Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SNAPIN
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005730nucleolus IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0005829cytosol ----
    GO:0008021synaptic vesicle TAS10195194

    SNAPIN for ontologies           About GeneDecksing



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    Assay Products for SNAPIN: 
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    BLOC1S: Biogenesis of lysosomal organelles complex-1 subunits

    1 InterPro protein domain:
     IPR017246 Snapin

    Graphical View of Domain Structure for InterPro Entry O95295

    ProtoNet protein and cluster: O95295

    UniProtKB/Swiss-Prot: SNAPN_HUMAN, O95295
    Similarity: Belongs to the SNAPIN family


    SNAPIN for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SNAPN_HUMAN, O95295
    Function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related
    organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1
    complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into
    neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be
    involved in neurite extension. Plays a role in intracellular vesicle trafficking. May modulate a step between
    vesicle priming, fusion and calcium-dependent neurotransmitter release through its ability to potentiate the
    interaction of synaptotagmin with the SNAREs and the plasma-membrane-associated protein SNAP25. Its
    phosphorylation state influences exocytotic protein interactions and may regulate synaptic vesicle exocytosis.
    May also have a role in the mechanisms of SNARE-mediated membrane fusion in non-neuronal cells

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000149SNARE binding IDA10195194
    GO:0005515protein binding IPI12809483
         
    SNAPIN for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SNAPIN:
     Increased HPV18 LCR reporter a 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Snapin):
     endocrine/exocrine gland  mortality/aging  nervous system 

    SNAPIN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Snapintm1Zhs for SNAPIN

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SNAPIN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SNAPIN

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

    miRNA
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    miRTarBase miRNAs that target SNAPIN:
    hsa-mir-1 (MIRT005274)

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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate SNAPIN (see all 17):
    hsa-miR-301b hsa-miR-30c hsa-miR-148b hsa-miR-575 hsa-miR-301a hsa-miR-30d hsa-miR-3666 hsa-miR-152
    SwitchGear 3'UTR luciferase reporter plasmidSNAPIN 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SNAPIN About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    2Membrane Trafficking
    Membrane Trafficking0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for SNAPIN
        Membrane Trafficking
    Clathrin derived vesicle budding
    Golgi Associated Vesicle Biogenesis
    trans-Golgi Network Vesicle Budding



    SNAPIN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SNAPIN

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

    5/53 Interacting proteins for SNAPIN (O952951, 2, 3 ENSP000003576744) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDR1Q083452, 3MINT-64069 I2D: score=5 
    ENSG00000137332Q083452, 3MINT-64069 I2D: score=5 
    ENSG00000215522Q083452, 3MINT-64069 I2D: score=5 
    ENSG00000230456Q083452, 3MINT-64069 I2D: score=5 
    ENSG00000234078Q083452, 3MINT-64069 I2D: score=5 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0007268synaptic transmission ----
    GO:0007269neurotransmitter secretion TAS10195194
    GO:0008089anterograde axon cargo transport ISS--
    GO:0016079synaptic vesicle exocytosis IDA10195194

    SNAPIN for ontologies           About GeneDecksing



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

    1 HMDB Compound for SNAPIN    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about SNAPIN / SNAPN

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SNAPIN gene: 
    NM_012437.5  

    Unigene Cluster for SNAPIN:

    SNAP-associated protein
    Hs.32018  [show with all ESTs]
    Unigene Representative Sequence: BQ947794
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368685(uc001fcq.3) ENST00000474959 ENST00000462880 ENST00000478558

    miRNA
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    Additional mRNA sequence: 

    AF086837.1 AK024555.1 BC000761.2 BC004494.2 BT006753.1 NR_052019.1 NR_052020.1 

    10 DOTS entries:

    DT.100684398  DT.97862522  DT.100860717  DT.100678194  DT.121394321  DT.40132647  DT.40132648  DT.91794691 
    DT.121394397  DT.95092703 

    24/158 AceView cDNA sequences (see all 158):

    BM845926 BQ678579 CD671119 BM512166 BX282383 BE222373 BM042198 BM711439 
    R70532 CD675626 CR610984 BU182390 BU190992 BM702246 AK024555 BF685842 
    AW246183 BC000761 BI255950 AF086837 AW105250 BU542720 CA306217 CR590362 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SNAPIN    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d · 4e
    SP1:                                                                        
    SP2:                          -     -                                       
    SP3:                                                                        
    SP4:                    -     -     -                                       
    SP5:                                                                        


    ECgene alternative splicing isoforms for SNAPIN

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.32018

    UniProtKB/Swiss-Prot: SNAPN_HUMAN, O95295
    Tissue specificity: Expressed in male germ cells of adult testis (at protein level)

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNAPIN
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNAPIN

    (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 animals.

    Orthologs for SNAPIN gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snapin1 , 5 SNAP-associated protein1, 5 89.95(n)1
    97.79(a)1
      3 (39.24 cM)5
    206151  NM_133854.31  NP_598615.11 
     904880265 
    chicken
    (Gallus gallus)
    Aves LOC1008581631 SNARE-associated protein Snapin-like 75.63(n)
    87.39(a)
      100858163  XM_003642627.1  XP_003642675.1 
    lizard
    (Anolis carolinensis)
    Reptilia SNAPIN6
    Uncharacterized protein
    73(a)
    1 ↔ 1
    GL344732.1(2030-5397)
    zebrafish
    (Danio rerio)
    Actinopterygii snapin1 SNAP-associated protein 69.97(n)
    81.82(a)
      567959  NM_001045148.1  NP_001038613.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta snapin6
    snapin
    31(a)
    1 ↔ 1
    2L(2758427-2759710)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) 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

    10/106 SNPs in SNAPIN are shown (see all 106)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1402407091,2
    --153629140(+) ATGGGA/GGCAGG 3 -- us2k10--------
    rs94273911,2
    --153629166(+) ttactC/Taggag 3 -- us2k10--------
    rs1480068211,2
    --153629226(+) CTATGA/TTAACA 3 -- us2k10--------
    rs1899428081,2
    --153629338(+) GGCGCA/GGTGGC 3 -- us2k10--------
    rs1837880901,2
    --153629381(+) GAGGCA/GGGTGG 3 -- us2k10--------
    rs121399531,2
    C,F--153629755(+) gtagcG/Agggac 3 -- us2k16Minor allele frequency- A:0.44WA NA CSA EA 364
    rs1416977151,2
    --153629858(+) GGCGCG/TATCAG 3 -- us2k10--------
    rs667218141,2
    C,F--153630120(+) AGTCTC/TACTAG 3 -- us2k18Minor allele frequency- T:0.46NA WA CSA EA 368
    rs794831991,2
    F--153630324(+) AGAAAT/CAGACC 3 -- us2k11Minor allele frequency- C:0.09WA 118
    rs1891969921,2
    --153630399(+) GCCCAA/GGAGTT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for SNAPIN (153631130 - 153634326 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SNAPIN:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv464028CNV Gain19166990

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607007    OMIM disorders: --

    10 diseases for SNAPIN:    About MalaCards
    tricuspid valve stenosis    platelet storage pool deficiency    hermansky-pudlak syndrome    hepatitis b
    schizophrenia    retinitis    hepatocellular carcinoma    hepatitis
    arthritis    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for SNAPIN:
    Tricuspid valve stenosis     Hermansky-Pudlak syndrome     Platelet storage pool deficiency

    SNAPIN for disorders           About GeneDecksing

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

    Export disorders for SNAPIN 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)
    About This Section

    PubMed articles for SNAPIN gene, integrated from 9 sources (see all 62):
    (articles sorted by number of sources associating them with SNAPIN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Snapin interacts with the N-terminus of regulator of G protein signaling 7. (PubMed id 12659861)1, 2, 3, 9 Hunt R.A.... Young K.H. (2003)
    2. Snapin: a SNARE-associated protein implicated in synaptic transmission. (PubMed id 10195194)1, 2, 3, 9 Ilardi J.M.... Sheng Z.-H. (1999)
    3. The SNARE-associated component SNAPIN binds PUMILIO2 and NANOS1 proteins in human male germ cells. (PubMed id 19168546)1, 2, 9 Ginter-Matuszewska B....Jaruzelska J. (2009)
    4. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome- related organelles complex-1 (BLOC-1). (PubMed id 15102850)1, 2, 9 Starcevic M. and Dell'Angelica E.C. (2004)
    5. Assembly and architecture of biogenesis of lysosome-re lated organelles complex-1 (BLOC-1). (PubMed id 22203680)1, 2 Lee H.H....Hurley J.H. (2012)
    6. Human cytomegalovirus primase UL70 specifically inter acts with cellular factor Snapin. (PubMed id 21917956)1, 2 Shen A....Liu F. (2011)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Identification and characterization of Snapin as a ubiquitously expressed SNARE-binding protein that interacts with SNAP23 in non-neuronal cells. (PubMed id 12877659)1, 9 Buxton P....Rowe T. (2003)
    10. The UT-A1 urea transporter interacts with snapin, a SNARE-associated protein. (PubMed id 17702749)1, 9 Mistry A.C....Sands J.M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23557 HGNC: 17145 AceView: SNAPAP Ensembl:ENSG00000143553 euGenes: HUgn23557
    ECgene: SNAPIN H-InvDB: SNAPIN

    (According to HUGE)
    About This Section
      --

    (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 SNAPIN Pharmacogenomics, SNPs, Pathways

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

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



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    About This Section

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