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SNX6 Gene

protein-coding   GIFtS: 56
GCID: GC14M035030

Sorting Nexin 6

  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 61 2
TRAF4-Associated Factor 22 3
MSTP0102
TFAF22
Sorting Nexin-62
Tumor Necrosis Factor Receptor-Associated Factor 4(TRAF4)-Associated
Factor 22

External Ids:    HGNC: 149701   Entrez Gene: 585332   Ensembl: ENSG000001295157   OMIM: 6060985   UniProtKB: Q9UNH73   

Export aliases for SNX6 gene to outside databases

Previous GC identifers: GC14M032408 GC14M028818 GC14M033020 GC14M034100 GC14M015145


(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 SNX6 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 associates with
the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine
kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth
factor. This protein may form oligomeric complexes with family member proteins through interactions of both the
PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the
nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts
encoding two distinct isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for SNX6 Gene:
SNX6 (sorting nexin 6) is a protein-coding gene. Diseases associated with SNX6 include holoprosencephaly, and coloboma. GO annotations related to this gene include phosphatidylinositol binding and protein homodimerization activity. An important paralog of this gene is SNX32.

UniProtKB/Swiss-Prot: SNX6_HUMAN, Q9UNH7
Function: May be involved in several stages of intracellular trafficking. Promotes lysosomal degradation of CDKN1B
(By similarity). Plays a role in retrograde protein transport from endosomes to the trans-Golgi network. May
function as link between transport vesicles and dynactin. Negatively regulates retrograde transport of BACE1 from
the cell surface to the trans-Golgi network. May contribute to transcription regulation




(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_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SNX6 gene promoter:
         SRY   Nkx2-2   COUP   Lmo2   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNX6 promoter sequence
   Search Chromatin IP Primers for SNX6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SNX6


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

Entrez Gene cytogenetic band: 14q13.1   Ensembl cytogenetic band:  14q13.1   HGNC cytogenetic band: 14q13

SNX6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNX6 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M035030:  view genomic region     (about GC identifiers)

Start:
35,030,300 bp from pter      End:
35,099,389 bp from pter
Size:
69,090 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, 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SNX6_HUMAN, Q9UNH7 (See protein sequence)
Recommended Name: Sorting nexin-6  
Size: 406 amino acids; 46649 Da
Subunit: Interacts with CDKN1B (By similarity). Interacts with TGFB receptors. Interacts with dynactin subunit
DCTN1. Interacts with SNX1 and SNX2. Interacts with BACE1 and BRMS1
Sequence caution: Sequence=AAD24202.1; Type=Erroneous initiation;
Secondary accessions: C0H5W9 Q9Y449
Alternative splicing: 2 isoforms:  Q9UNH7-1   Q9UNH7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SNX6: NX_Q9UNH7

Explore proteomics data for SNX6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys60, Lys119, Lys138, Lys189, Lys204, Lys265, Lys291, Lys375
  • Modification sites at PhosphoSitePlus

  • See SNX6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_689419.2  NP_067072.3  

    ENSEMBL proteins: 
     ENSP00000379779   ENSP00000355217   ENSP00000452231   ENSP00000452082   ENSP00000451415  
     ENSP00000452577   ENSP00000450863   ENSP00000452520   ENSP00000379785   ENSP00000347230  

    SNX6 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SNX6
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    Novus Biologicals SNX6 Protein
    Novus Biologicals SNX6 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for SNX6

    SNX6 Antibody Products:

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    SNX6 Assay 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

    5 InterPro protein domains:
     IPR028657 SNX6/SNX32
     IPR015404 Vps5_C
     IPR027267 AH/BAR-dom
     IPR014637 SNX5/SNX6/SNX32
     IPR001683 Phox

    Graphical View of Domain Structure for InterPro Entry Q9UNH7

    ProtoNet protein and cluster: Q9UNH7

    1 Blocks protein domain: IPB001683 Phox-like

    UniProtKB/Swiss-Prot: SNX6_HUMAN, Q9UNH7
    Domain: The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3,4-bisphosphate and/or
    phosphatidylinositol 4,5-bisphosphate (By similarity)
    Similarity: Belongs to the sorting nexin family
    Similarity: Contains 1 PX (phox homology) domain


    SNX6 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: SNX6_HUMAN, Q9UNH7
    Function: May be involved in several stages of intracellular trafficking. Promotes lysosomal degradation of CDKN1B
    (By similarity). Plays a role in retrograde protein transport from endosomes to the trans-Golgi network. May
    function as link between transport vesicles and dynactin. Negatively regulates retrograde transport of BACE1 from
    the cell surface to the trans-Golgi network. May contribute to transcription regulation

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11278302
    GO:0035091phosphatidylinositol binding IBA--
    GO:0042803protein homodimerization activity IPI11279102
         
    SNX6 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SNX6:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SNX6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SNX6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SNX6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SNX6

    miRNA
    Products:
        
    miRTarBase miRNAs that target SNX6:
    hsa-let-7a-5p (MIRT052571), hsa-mir-15a-5p (MIRT051325), hsa-mir-16-5p (MIRT031491), hsa-mir-186-5p (MIRT045044), hsa-mir-1 (MIRT001331), hsa-mir-155-5p (MIRT020606)

    Block miRNA regulation of human, mouse, rat SNX6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SNX6 (see all 52):
    hsa-miR-142-5p hsa-miR-642a hsa-miR-3607-3p hsa-let-7d hsa-miR-30d hsa-miR-570 hsa-let-7g hsa-miR-548m
    SwitchGear 3'UTR luciferase reporter plasmidSNX6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SNX6
    Predesigned siRNA for gene silencing in human, mouse, rat SNX6

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for SNX6

    Clone
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    OriGene clones in human, mouse for SNX6 (see all 13)
    OriGene ORF clones in mouse, rat for SNX6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SNX6 (NM_021249)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNX6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNX6

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SNX6
    Browse ESI BIO Cell Lines and PureStem Progenitors for SNX6 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNX6


    (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
    SNX6_HUMAN, Q9UNH7: Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Early endosome
    membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Nucleus. Note=Interaction with SNX1 or SNX2
    promotes location at endosome membranes. Only a minor proportion is seen in the nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    nucleus5
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular NAS11279102
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA11279102
    GO:0030659cytoplasmic vesicle membrane IEA--
    GO:0031901early endosome membrane IDA19935774

    SNX6 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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    SuperPaths for SNX6 About    
    See pathways by source

    SuperPathContained pathways About
    1TGF-beta Receptor Signaling Pathway
    TGF-beta Receptor Signaling Pathway
    2SMAD Signaling Network
    SMAD Signaling Network

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SNX6
        SMAD Signaling Network

    1 BioSystems Pathway for SNX6
        TGF-beta Receptor Signaling Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SNX6
    Interactions:

        GeneGlobe Interaction Network for SNX6

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

    Selected Interacting proteins for SNX6 (Q9UNH71, 2, 3 ENSP000003552174) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    ATP1A1P050232, 3, ENSP000002955984MINT-2634538 I2D: score=1 STRING: ENSP00000295598
    SNX2O607493, ENSP000003688314I2D: score=7 STRING: ENSP00000368831
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport NAS11279102
    GO:0007154cell communication ----
    GO:0007175negative regulation of epidermal growth factor-activated receptor activity NAS11279102
    GO:0030512negative regulation of transforming growth factor beta receptor signaling pathway IDA11279102
    GO:0042147retrograde transport, endosome to Golgi IMP19935774

    SNX6 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 SNX6



    (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,
    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 SNX6 gene (2 alternative transcripts): 
    NM_152233.2  NM_021249.3  

    Unigene Cluster for SNX6:

    Sorting nexin 6
    Hs.356647  [show with all ESTs]
    Unigene Representative Sequence: NM_021249
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396526(uc001wse.1 uc001wsf.1 uc010tpm.1) ENST00000362031
    ENST00000556162 ENST00000555416 ENST00000555541 ENST00000556712 ENST00000557265
    ENST00000557341 ENST00000556303 ENST00000555648 ENST00000396534 ENST00000355110(uc010amm.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SNX6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SNX6 (see all 52):
    hsa-miR-142-5p hsa-miR-642a hsa-miR-3607-3p hsa-let-7d hsa-miR-30d hsa-miR-570 hsa-let-7g hsa-miR-548m
    SwitchGear 3'UTR luciferase reporter plasmidSNX6 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SNX6
    Predesigned siRNA for gene silencing in human, mouse, rat SNX6
    Clone
    Products:
         
    OriGene clones in human, mouse for SNX6 (see all 13)
    OriGene ORF clones in mouse, rat for SNX6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SNX6 (NM_021249)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNX6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNX6
    Primer
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    OriGene qPCR primer pairs and template standards for SNX6
    OriGene qSTAR qPCR primer pairs in human, mouse for SNX6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SNX6
      QuantiTect SYBR Green Assays in human, mouse, rat SNX6
      QuantiFast Probe-based Assays in human, mouse, rat SNX6

    Additional mRNA sequence: 

    AF109364.1 AF121856.1 AK021456.1 AK124315.1 AK292250.1 AK296213.1 AK308464.1 U83194.1 

    Selected DOTS entries (see all 28):

    DT.100674846  DT.75159062  DT.95252182  DT.95252180  DT.100809299  DT.120752454  DT.97853342  DT.120752582 
    DT.91909782  DT.120752439  DT.100674851  DT.95252177  DT.95252196  DT.101971904  DT.120752466  DT.92447785 
    DT.95252179  DT.95252213  DT.100847921  DT.120752485  DT.121501660  DT.75159132  DT.92447794  DT.95252181 

    Selected AceView cDNA sequences (see all 482):

    BM755646 CB997797 BG532432 CB163293 AU126040 AA670114 CR590030 CA415107 
    Z41909 CB130242 AI018089 AI042230 AA917896 AW137248 H93997 AW663196 
    AL535865 CB992804 AI969645 BF476697 NM_021249 BM701091 CN485177 AA558790 

    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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    SNX6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATCCTGGTA
    SNX6 Expression
    About this image


    SNX6 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
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Bone (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
     
     Cartilage (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
     
     Limb (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
    SNX6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNX6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.356647
        Custom PCR Arrays for SNX6
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SNX6
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    QuantiFast Probe-based Assays in human, mouse, rat SNX6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNX6

    (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 SNX6 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snx61 , 5 sorting nexin 61, 5 90.64(n)1
    99.51(a)1
      12 (23.46 cM)5
    721831  NM_026998.31  NP_081274.21 
     547463575 
    chicken
    (Gallus gallus)
    Aves SNX61 sorting nexin 6 86.29(n)
    97.04(a)
      771038  NM_001079757.1  NP_001073225.1 
    lizard
    (Anolis carolinensis)
    Reptilia SNX66
    sorting nexin 6
    96(a)
    1 ↔ 1
    2(54755155-54792914)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU915950.12   -- 78.19(n)    BU915950.1 
    zebrafish
    (Danio rerio)
    Actinopterygii snx61 sorting nexin 6 77.09(n)
    92.36(a)
      567182  NM_001030217.1  NP_001025388.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Snx61 Snx6 55.39(n)
    53.58(a)
      34126  NM_001259010.2  NP_001245939.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y59A8B.223
    snx-61
    snx-61 35(a)3
    60.09(n)1
    54.74(a)1
      V(17971863-17982666)3
    1903991  NM_001269834.11  NP_001256763.11 


    ENSEMBL Gene Tree for SNX6 (if available)
    TreeFam Gene Tree for SNX6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SNX6 gene
    SNX322  SNX52  
    2 SIMAP similar genes for SNX6 using alignment to 8 protein entries:     SNX6_HUMAN (see all proteins):
    SNX32    SNX5

    SNX6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SNX6
    PGOHUM00000234259


    (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 SNX6 (see all 1462)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1862025851,2
    --15214582(+) AAATTA/TAAAAA 2 -- us2k10--------
    rs1910495921,2
    --15214583(+) AATTTA/TAAAAA 2 -- us2k10--------
    rs1824659461,2
    --15214750(+) GTTTCC/TCAGCG 2 -- us2k10--------
    rs101519591,2
    C,F,A,H--15214755(+) CCAGCA/GCATTG 2 -- us2k128Minor allele frequency- G:0.28NS EA NA WA CSA 2772
    rs1891086151,2
    --15214838(+) GTGTCA/GGGAGG 2 -- us2k10--------
    rs771528851,2
    C,F--15214845(+) GAGGAA/TTGTTC 2 -- us2k11Minor allele frequency- T:0.11WA 118
    rs1490571601,2
    --15214875(+) AAAAGG/TGCCAC 2 -- us2k10--------
    rs101411291,2
    C--15214881(+) GCCACA/TATTTC 2 -- us2k10--------
    rs49821921,2
    C,F,A,H--15214946(+) AGAGAA/GAGGAG 2 -- us2k1 trp326Minor allele frequency- G:0.27NS EA NA WA CSA 2437
    rs1386106291,2
    C--15214963(+) CACAAC/TAAATG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SNX6 (35030300 - 35099389 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SNX6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv523334CNV Loss19592680
    nsv93OTHER Inversion15895083
    nsv499102OTHER Inversion21111241
    nsv7251OTHER Inversion18451855
    esv1007795OTHER Inversion20482838

    Site Specific Mutation Identification with 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

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    OMIM gene information: 606098    OMIM disorders: --

    6 diseases for SNX6:    
    About MalaCards
    holoprosencephaly    coloboma    schizophrenia    ataxia
    breast cancer    malaria

    1 disease from the University of Copenhagen DISEASES database for SNX6:
    Holoprosencephaly

    SNX6 for disorders           About GeneDecksing


    Export disorders for SNX6 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 SNX6 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with SNX6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sorting nexin 6, a novel SNX, interacts with the transforming growth factor-beta family of receptor serine-threonine kinases. (PubMed id 11279102)1, 2, 3, 9 Parks W.T.... Lechleider R.J. (J. Biol. Chem. 2001)
    2. A large family of endosome-localized proteins related to sorting nexin 1. (PubMed id 11485546)1, 2, 9 Teasdale R.D.... Gleeson P.A. (Biochem. J. 2001)
    3. Proteomic identification of sorting nexin 6 as a negative regulator of BACE1-mediated APP processing. (PubMed id 20354142)1, 2 Okada H....Kim T.W. (FASEB J. 2010)
    4. Sorting nexin 6 interacts with breast cancer metastasis suppressor-1 and promotes transcriptional repression. (PubMed id 20830743)1, 2 Rivera J.... Bravo J. (J. Cell. Biochem. 2010)
    5. The retromer component SNX6 interacts with dynactin p150(Glued) and mediates endosome-to-TGN transport. (PubMed id 19935774)1, 2 Hong Z.... Liu J.J. (Cell Res. 2009)
    6. An epidermal growth factor (EGF) -dependent interaction between GIT1 and sorting nexin 6 promotes degradation of the EGF receptor. (PubMed id 18523162)1, 9 Cavet M.E....Berk B.C. (FASEB J. 2008)
    7. Inhibition of Na,K-ATPase-suppressive activity of translationally controlled tumor protein by sorting nexin 6. (PubMed id 16730713)1, 9 Yoon T....Lee K. (FEBS Lett. 2006)
    8. A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. (PubMed id 23936387)1 A9stensson M....Torinsson-Naluai A.8. (PLoS ONE 2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)

    (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)
    About This Section

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    Entrez Gene: 58533 HGNC: 14970 AceView: SNX6 Ensembl:ENSG00000129515 euGenes: HUgn58533
    ECgene: SNX6 H-InvDB: SNX6

    (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 SNX6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SNX6 Genetics and Cytogenetics in Oncology and Haematology

    (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 SNX6 gene:
    Search GeneIP for patents involving SNX6

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



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