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SNX17 Gene

protein-coding   GIFtS: 56
GCID: GC02P027593

Sorting Nexin 17

  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)
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Aliases
Sorting Nexin 171 2
Sorting Nexin-172
KIAA00643

External Ids:    HGNC: 149791   Entrez Gene: 97842   Ensembl: ENSG000001152347   OMIM: 6059635   UniProtKB: Q150363   

Export aliases for SNX17 gene to outside databases

Previous GC identifers: GC02P027514 GC02P027685 GC02P027567 GC02P027505 GC02P027446 GC02P027335


(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 SNX17 Gene:
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which
is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not
contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with
the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin.
Alternative splicing results in multiple transcript variants encoding different isoforms. (provided by RefSeq,
May 2012)

GeneCards Summary for SNX17 Gene:
SNX17 (sorting nexin 17) is a protein-coding gene. Diseases associated with SNX17 include cavernous malformation, and cerebral cavernous malformation. GO annotations related to this gene include phosphatidylinositol binding and receptor binding. An important paralog of this gene is SNX27.

UniProtKB/Swiss-Prot: SNX17_HUMAN, Q15036
Function: Critical regulator of endosomal recycling of numerous receptors, channels, and other transmembrane
proteins. Binds to NPxY sequences in the cytoplasmic tails of target cargos. Plays a role in the sorting of
endocytosed LRP1 and APP, and prevents their degradation. Required for maintenance of normal cell surface levels
of APP and LRP1. Recycles internalized integrins ITGB1, ITGB5 and their associated alpha subunits, preventing
them from lysosomal degradation. Interacts with membranes containing phosphatidylinositol 3-phosphate
(PtdIns(3P))

Gene Wiki entry for SNX17 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:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SNX17 gene promoter:
         Pax-5   p300   Lmo2   AP-2gamma   AREB6   CP2   AP-2beta   AP-2alpha   Pax-4a   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNX17 promoter sequence
   Search Chromatin IP Primers for SNX17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SNX17


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

Entrez Gene cytogenetic band: 2p23-p22   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23-p22

SNX17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNX17 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P027593:  view genomic region     (about GC identifiers)

Start:
27,593,389 bp from pter      End:
27,599,995 bp from pter
Size:
6,607 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, 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., 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: SNX17_HUMAN, Q15036 (See protein sequence)
Recommended Name: Sorting nexin-17  
Size: 470 amino acids; 52901 Da
Subunit: Monomer. Interacts with APP (via cytoplasmic YXNPXY motif). Interacts with KIF1B (By similarity).
Interacts with the C-termini of P-selectin, PTC, LDLR, VLDLR, LRP1 and LRP8. Interacts with KRIT1 (via
N-terminus). Interacts with HRAS. Interacts with ITGB1 and ITGB5 (via NPxY motif)
Sequence caution: Sequence=BAA06542.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for SNX17:
3FOG (3D)        3LUI (3D)        4GXB (3D)    
Secondary accessions: B4DQM7 Q53HN7 Q6IAS3
Alternative splicing: 2 isoforms:  Q15036-1   Q15036-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SNX17: NX_Q15036

Explore proteomics data for SNX17 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys63, Lys241
  • Modification sites at PhosphoSitePlus

  • See SNX17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001253988.1  NP_001253989.1  NP_001253990.1  NP_055563.1  

    ENSEMBL proteins: 
     ENSP00000233575   ENSP00000399727   ENSP00000405399   ENSP00000401922   ENSP00000439208  
     ENSP00000441779   ENSP00000442567  

    SNX17 Human Recombinant Protein Products:

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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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    HGNC Gene Families:
    SNX: Sorting nexins

    3 InterPro protein domains:
     IPR028666 SNX17/SNX31
     IPR001683 Phox
     IPR000159 Ras-assoc

    Graphical View of Domain Structure for InterPro Entry Q15036

    ProtoNet protein and cluster: Q15036

    2 Blocks protein domains:
    IPB000159 RA domain
    IPB001683 Phox-like


    UniProtKB/Swiss-Prot: SNX17_HUMAN, Q15036
    Domain: The PX domain mediates specific binding to phosphatidylinositol 3-phosphate (PtdIns(P3)). Required for
    association with endosomes
    Domain: The PTB-like F3 module within the FERM-like domain mediates cargo recognition via their NPxY sequences,
    while the F1 module (Ras-associating) is responsible for interaction with membrane-bound HRAS
    Similarity: Belongs to the sorting nexin family
    Similarity: Contains 1 PX (phox homology) domain
    Similarity: Contains 1 Ras-associating domain


    SNX17 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SNX17_HUMAN, Q15036
    Function: Critical regulator of endosomal recycling of numerous receptors, channels, and other transmembrane
    proteins. Binds to NPxY sequences in the cytoplasmic tails of target cargos. Plays a role in the sorting of
    endocytosed LRP1 and APP, and prevents their degradation. Required for maintenance of normal cell surface levels
    of APP and LRP1. Recycles internalized integrins ITGB1, ITGB5 and their associated alpha subunits, preventing
    them from lysosomal degradation. Interacts with membranes containing phosphatidylinositol 3-phosphate
    (PtdIns(3P))

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding NAS12169628
    GO:0005515protein binding IPI16712798
    GO:0008022protein C-terminus binding IPI11237770
    GO:0035091phosphatidylinositol binding IDA16712798
    GO:0050750low-density lipoprotein particle receptor binding IDA12169628
         
    SNX17 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SNX17
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    miRNA
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    hsa-mir-18a-3p (MIRT040825), hsa-mir-124-3p (MIRT022223)

    Block miRNA regulation of human, mouse, rat SNX17 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SNX17 (see all 9):
    hsa-miR-182 hsa-miR-19b hsa-miR-1271 hsa-miR-3155 hsa-miR-3155b hsa-miR-2113 hsa-miR-19a hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidSNX17 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SNX17

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    GenScript: all cDNA clones in your preferred vector: SNX17 (NM_014748)
    Sino Biological Human cDNA Clone for SNX17
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNX17

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNX17


    (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
    SNX17_HUMAN, Q15036: Cytoplasm. Early endosome. Cytoplasmic vesicle membrane; Peripheral membrane protein;
    Cytoplasmic side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endosome5
    golgi apparatus5
    nucleus2
    extracellular1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005768endosome IDA--
    GO:0005769early endosome IDA12169628
    GO:0005794Golgi apparatus IDA10942595
    GO:0005829cytosol IDA16712798

    SNX17 for ontologies           About GeneDecksing


    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including SNX17: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SNX17

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for SNX17 (Q150361, 2, 3 ENSP000002335754) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLCG1P191741, 2, 3, ENSP000002440074EBI-1752620,EBI-79387 MINT-8112783 I2D: score=3 STRING: ENSP00000244007
    ABL1P005192, 3, ENSP000003614234MINT-8110767 I2D: score=3 STRING: ENSP00000361423
    FYNP062412, 3, ENSP000003576564MINT-8111535 I2D: score=3 STRING: ENSP00000357656
    PIK3R1P279862, 3, ENSP000002743354MINT-8112255 I2D: score=3 STRING: ENSP00000274335
    SKILP127572, 3MINT-61672 I2D: score=3 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006707cholesterol catabolic process IC12169628
    GO:0006886intracellular protein transport NAS12169628
    GO:0006898receptor-mediated endocytosis IEA--
    GO:0007154cell communication ----
    GO:0007165signal transduction IEA--

    SNX17 for ontologies           About GeneDecksing



    (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 SNX17



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SNX17 gene (4 alternative transcripts): 
    NM_001267059.1  NM_001267060.1  NM_001267061.1  NM_014748.3  

    Unigene Cluster for SNX17:

    Sorting nexin 17
    Hs.278569  [show with all ESTs]
    Unigene Representative Sequence: NR_049782
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000233575(uc010ylj.1 uc002rkg.1 uc010ylk.1 uc002rki.1 uc002rkh.1 uc010yll.1 uc010ylm.1 uc010yln.1 uc010ylo.1 uc010ylp.1)
    ENST00000484886 ENST00000440760(uc010eza.1) ENST00000494893 ENST00000427123
    ENST00000464279 ENST00000489402 ENST00000453453 ENST00000493711 ENST00000537606
    ENST00000543024 ENST00000542478(uc010ylq.1)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SNX17 (see all 9):
    hsa-miR-182 hsa-miR-19b hsa-miR-1271 hsa-miR-3155 hsa-miR-3155b hsa-miR-2113 hsa-miR-19a hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidSNX17 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat SNX17
      QuantiFast Probe-based Assays in human, mouse, rat SNX17

    Additional mRNA sequence: 

    AK129689.1 AK222543.1 AK293252.1 AK293464.1 AK295278.1 AK297054.1 AK298620.1 AK298856.1 
    AK298869.1 AK300144.1 AK300641.1 AK307122.1 AK308487.1 AK309640.1 AK316373.1 BC002524.1 
    BC002610.1 BC014620.2 BC021108.1 BC032320.1 BC050590.1 BT007167.1 CR457081.1 D31764.1 
    NR_049782.1 NR_049783.1 NR_049784.1 NR_049785.1 NR_049786.1 NR_049787.1 NR_049788.1 

    Selected DOTS entries (see all 30):

    DT.100849520  DT.95223874  DT.448689  DT.100864265  DT.100739760  DT.100682848  DT.120979568  DT.92008771 
    DT.100858014  DT.120979259  DT.100859428  DT.91833857  DT.100863326  DT.91960585  DT.92463198  DT.120979279 
    DT.120979251  DT.40116650  DT.91699322  DT.100031575  DT.100682843  DT.100682849  DT.100682853  DT.100712483 

    Selected AceView cDNA sequences (see all 838):

    BM555955 BC050590 BQ477759 CN483091 BQ267547 BE275793 CF144584 CN485167 
    BQ478357 BC002524 BE378950 BM314003 AI590625 F18494 BM887988 BQ684329 
    CB141080 BQ937443 BQ069741 BE409031 BI837922 BX402414 AU124166 BQ054553 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SNX17 (see all 17)    About this scheme

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

    ExUns: 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16
    SP1:                                -                       -         
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for SNX17

    (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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    SNX17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCCAAAGGC
    SNX17 Expression
    About this image


    SNX17 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Kidney (Urinary System)
     
     Uterus (Reproductive System)
    SNX17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNX17 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.278569
        Pathway & Disease-focused RT2 Profiler PCR Array including SNX17: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNX17

    (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 SNX17 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snx171 , 5 sorting nexin 171, 5 91.84(n)1
    98.51(a)1
      5 (17.26 cM)5
    2667811  NM_153680.21  NP_710147.11 
     311932275 
    chicken
    (Gallus gallus)
    Aves SNX171 sorting nexin 17 76.21(n)
    82.65(a)
      421990  XM_419999.4  XP_419999.4 
    African clawed frog
    (Xenopus laevis)
    Amphibia snx17-prov2 sorting nexin 17 78.19(n)    BC045228.1 
    zebrafish
    (Danio rerio)
    Actinopterygii snx171 sorting nexin 17 70.15(n)
    76.76(a)
      568263  NM_001045157.3  NP_001038622.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG57341 , 3 CG57341 43(a)3
    51.74(n)1
    45.21(a)1
      31B13
    343541  NM_135509.31  NP_609353.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F17H10.33
    snx-171
    PhoX homologous domain, present in
    p47phox and more3
    snx-171
    28(a)3
    43.39(n)1
    32.55(a)1
      X(13151855-13154374)3
    1846241  NM_001083294.21  NP_001076763.11 


    ENSEMBL Gene Tree for SNX17 (if available)
    TreeFam Gene Tree for SNX17 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SNX17 gene
    SNX272  SNX312  
    3 SIMAP similar genes for SNX17 using alignment to 5 protein entries:     SNX17_HUMAN (see all proteins):
    SNX31    SNX27    SNX24

    SNX17 for paralogs           About GeneDecksing



    (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)
    About This Section

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    Selected SNPs for SNX17 (see all 176)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1406126611,2
    C--27595372(+) TAGAC-/AGGGGAA 11 -- int10--------
    rs2005539351,2
    C--27595515(+) CAATGT/CGCTTC 15 /A /V mis1 int11Minor allele frequency- C:0.00EU 1323
    rs2009678481,2
    --27595556(+) TGACTC/TCTGCT 15 P S mis1 int10--------
    rs1852861081,2
    --27595663(+) GACTTA/TAAAAC 11 -- int10--------
    rs1883772251,2
    --27595708(+) AGATCG/TAGGAA 11 -- int10--------
    rs781010521,2
    C,F--27595729(+) TGATCT/AGTTAT 11 -- int11Minor allele frequency- A:0.02NA 120
    rs1125399301,2
    C,F--27595734(+) TGTTAG/TGCAGT 11 -- int11Minor allele frequency- T:0.50CSA 2
    rs786826721,2
    C,F--27595754(+) AAATAG/CTGTAC 11 -- int11Minor allele frequency- C:0.03EA 120
    rs15285331,2
    C,F,A,H--27595756(+) ATAGTG/CTACGA 11 -- int133Minor allele frequency- C:0.41EA NA NS WA CSA 1789
    rs1467448231,2
    --27595775(+) AACTCC/TGTGTA 11 -- int10--------

    HapMap Linkage Disequilibrium report for SNX17 (27593389 - 27599995 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SNX17:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv873754CNV Loss21882294
    dgv4072n71CNV Loss21882294
    nsv873757CNV Loss21882294
    nsv833614CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SNX17
    DNA2.0 Custom Variant and Variant Library Synthesis for SNX17

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605963    OMIM disorders: --

    5 diseases for SNX17:    
    About MalaCards
    cavernous malformation    cerebral cavernous malformation    cerebritis    malaria
    breast cancer


    SNX17 for disorders           About GeneDecksing


    Export disorders for SNX17 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 SNX17 gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with SNX17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functions of sorting nexin 17 domains and recognition motif for P- selectin trafficking. (PubMed id 15769472)1, 2, 3 Knauth P.... Bohnensack R. (J. Mol. Biol. 2005)
    2. Sorting motifs in the intracellular domain of the low density lipoprotein receptor interact with a novel domain of sorting nexin- 17. (PubMed id 14739284)1, 2, 9 Burden J.J.... Soutar A.K. (J. Biol. Chem. 2004)
    3. Polarized traffic of LRP1 involves AP1B and SNX17 operating on Y- dependent sorting motifs in different pathways. (PubMed id 19005208)1, 2, 9 Donoso M.... Marzolo M.P. (Mol. Biol. Cell 2009)
    4. The PX-domain protein SNX17 interacts with members of the LDL receptor family and modulates endocytosis of the LDL receptor. (PubMed id 12169628)1, 3, 9 Stockinger W....Nimpf J. (EMBO J. 2002)
    5. SNX17 protects integrins from degradation by sorting between lysosomal and recycling pathways. (PubMed id 22492727)1, 2 Steinberg F.... Cullen P.J. (J. Cell Biol. 2012)
    6. Sorting nexin 17, a non-self-assembling and a PtdIns(3)P high class affinity protein, interacts with the cerebral cavernous malformation related protein KRIT1. (PubMed id 16712798)1, 2 Czubayko M.... Bohnensack R. (Biochem. Biophys. Res. Commun. 2006)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    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. (Genome Res. 2004)
    9. Sorting nexin 17 accelerates internalization yet retards degradation of P-selectin. (PubMed id 15121882)1, 2 Williams R....Cutler D.F. (Mol. Biol. Cell 2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 9784 HGNC: 14979 AceView: SNX17 Ensembl:ENSG00000115234 euGenes: HUgn9784
    ECgene: SNX17 H-InvDB: SNX17

    (According to HUGE)
    About This Section

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    HUGE: KIAA0064

    (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 SNX17 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for SNX17 gene:
    Search GeneIP for patents involving SNX17

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



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