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SNX3 Gene

protein-coding   GIFtS: 66
GCID: GC06M108578

Sorting Nexin 3

  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 31 2     Sorting Nexin 3A2
Grd192     Sorting Nexin-32
MCOPS82     Protein SDP33
SDP32     

External Ids:    HGNC: 111741   Entrez Gene: 87242   Ensembl: ENSG000001123357   OMIM: 6059305   UniProtKB: O604933   

Export aliases for SNX3 gene to outside databases

Previous GC identifers: GC06M108382 GC06M108555 GC06M108639 GC06M106100


(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 SNX3 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 most family members. This protein interacts with
phosphatidylinositol-3-phosphate, and is involved in protein trafficking. (provided by RefSeq, Jul 2008)

GeneCards Summary for SNX3 Gene:
SNX3 (sorting nexin 3) is a protein-coding gene. Diseases associated with SNX3 include microphthalmia syndromic 8, and microphthalmia. GO annotations related to this gene include protein phosphatase binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is SNX10.

UniProtKB/Swiss-Prot: SNX3_HUMAN, O60493
Function: Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds
phosphatidylinositol 3-phosphate (PtdIns(P3)). Plays a role in protein transport between cellular compartments.
Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (By
similarity). Not involved in EGFR degradation

Gene Wiki entry for SNX3 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_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SNX3 gene promoter:
         C/EBPbeta   Pax-6   Nkx2-5   LCR-F1   RORalpha2   MEF-2A   GCNF-1   c-Myb   aMEF-2   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNX3 promoter sequence
   Search Chromatin IP Primers for SNX3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SNX3


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

Entrez Gene cytogenetic band: 6q21   Ensembl cytogenetic band:  6q21   HGNC cytogenetic band: 6q21

SNX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNX3 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M108578:  view genomic region     (about GC identifiers)

Start:
108,532,426 bp from pter      End:
108,582,464 bp from pter
Size:
50,039 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: SNX3_HUMAN, O60493 (See protein sequence)
Recommended Name: Sorting nexin-3  
Size: 162 amino acids; 18762 Da
Subunit: Interacts with USP10 and SCNN1A (By similarity)
1 PDB 3D structure from and Proteopedia for SNX3:
2YPS (3D)    
Secondary accessions: A8K0B1 E1P5E4 E1P5E5 O60718 Q4TT29 Q4TT31 Q5JXJ7 Q5JXJ8 Q96AP9 Q9C0J5
Q9NU45
Alternative splicing: 4 isoforms:  O60493-1   O60493-2   O60493-3   O60493-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SNX3: NX_O60493

Explore proteomics data for SNX3 at MOPED

Post-translational modifications: 

  • Ubiquitinated, leading to its proteasomal degradation. Deubiquitinated by USP10 (By similarity)1
  • Ubiquitination2 at Lys61, Lys95, Lys119, Lys128
  • Modification sites at PhosphoSitePlus

  • See SNX3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_003786.1  NP_690040.1  

    ENSEMBL proteins: 
     ENSP00000230085   ENSP00000401779   ENSP00000357975   ENSP00000296991   ENSP00000357978  
    Reactome Protein details: O60493

    SNX3 Human Recombinant Protein Products:

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    Novus Biologicals SNX3 Proteins
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    Cloud-Clone Corp. CLIAs for SNX3


    (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

    1 InterPro protein domain:
     IPR001683 Phox

    Graphical View of Domain Structure for InterPro Entry O60493

    ProtoNet protein and cluster: O60493

    1 Blocks protein domain: IPB001683 Phox-like

    UniProtKB/Swiss-Prot: SNX3_HUMAN, O60493
    Domain: The PX domain mediates specific binding to phosphatidylinositol 3-phosphate (PtdIns(P3))
    Similarity: Belongs to the sorting nexin family
    Similarity: Contains 1 PX (phox homology) domain


    SNX3 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: SNX3_HUMAN, O60493
    Function: Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds
    phosphatidylinositol 3-phosphate (PtdIns(P3)). Plays a role in protein transport between cellular compartments.
    Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (By
    similarity). Not involved in EGFR degradation

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17474147
    GO:0019903protein phosphatase binding IPI17622474
    GO:0032266phosphatidylinositol-3-phosphate binding IDA11433298
    GO:0035091phosphatidylinositol binding ----
         
    SNX3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SNX3:
     Decreased nuclei size in G2M 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SNX3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SNX3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SNX3

    miRNA
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    miRTarBase miRNAs that target SNX3:
    hsa-mir-34a-5p (MIRT047345), hsa-mir-30a-5p (MIRT028575)

    Block miRNA regulation of human, mouse, rat SNX3 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate SNX3:
    hsa-miR-3659 hsa-miR-340 hsa-miR-107 hsa-let-7f-2* hsa-miR-570 hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidSNX3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SNX3

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    GenScript: all cDNA clones in your preferred vector (see all 2): SNX3 (NM_152827)
    Sino Biological Human cDNA Clone for SNX3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNX3

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNX3


    (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
    SNX3_HUMAN, O60493: Early endosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    cytosol3
    nucleus2
    extracellular1
    lysosome1
    plasma membrane1
    vacuole1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005769early endosome IDA11433298
    GO:0005829cytosol TAS--
    GO:0010008endosome membrane IDA15673616
    GO:0043231intracellular membrane-bounded organelle IDA--

    SNX3 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 SNX3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1beta-catenin independent WNT signaling
    Signaling by Wnt0.79
    2Signaling by GPCR
    Signal Transduction0.58
    3Wnt Pathway
    WNT ligand biogenesis and trafficking0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for SNX3
        WNT ligand biogenesis and trafficking



    SNX3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SNX3
    Interactions:

        Search GeneGlobe Interaction Network for SNX3

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

    Selected Interacting proteins for SNX3 (O604931, 2, 3 ENSP000002300854) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRKP461081, 3, ENSP000003005744EBI-727209,EBI-886 I2D: score=1 STRING: ENSP00000300574
    STX11O755582, 3, ENSP000003565404MINT-63212 I2D: score=4 STRING: ENSP00000356540
    USP10Q146943, ENSP000002194734I2D: score=2 STRING: ENSP00000219473
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IBA--
    GO:0006897endocytosis TAS9819414
    GO:0007154cell communication ----
    GO:0015031protein transport ----
    GO:0042541hemoglobin biosynthetic process IBA--

    SNX3 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 SNX3

    1 DrugBank Compound for SNX3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    S,S-(2-Hydroxyethyl)Thiocysteine-- --target--10592235



    (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 SNX3 gene (3 alternative transcripts): 
    NM_003795.4  NM_152827.2  NM_152828.2  

    Unigene Cluster for SNX3:

    Sorting nexin 3
    Hs.12102  [show with all ESTs]
    Unigene Representative Sequence: AK289476
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000230085(uc003psh.3 uc003psi.3) ENST00000426155 ENST00000368979(uc010kdi.3)
    ENST00000349379 ENST00000368982
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate SNX3:
    hsa-miR-3659 hsa-miR-340 hsa-miR-107 hsa-let-7f-2* hsa-miR-570 hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidSNX3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SNX3
    Predesigned siRNA for gene silencing in human, mouse, rat SNX3
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SNX3 (NM_152827)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNX3
    Primer
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    OriGene qPCR primer pairs and template standards for SNX3
    OriGene qSTAR qPCR primer pairs in human, mouse for SNX3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SNX3
      QuantiTect SYBR Green Assays in human, mouse, rat SNX3
      QuantiFast Probe-based Assays in human, mouse, rat SNX3

    Additional mRNA sequence: 

    AB047360.1 AF034546.1 AF062483.1 AK289476.1 BC008444.1 BC014580.1 BC015179.1 BT007114.1 
    CR456898.1 

    19 DOTS entries:

    DT.100059527  DT.449260  DT.100842483  DT.100842485  DT.92453477  DT.100842475  DT.100842486  DT.100894403 
    DT.95105957  DT.95105958  DT.101984531  DT.95105994  DT.100649270  DT.100842478  DT.91650235  DT.92453479 
    DT.100842484  DT.91995498  DT.92409179 

    Selected AceView cDNA sequences (see all 586):

    BG779096 AL582915 AV646514 AA741416 AA902239 AI690547 BM721206 BQ632188 
    BG679507 AW026520 CB106547 BU681009 BQ771652 BM781950 BQ438267 NM_152828 
    NM_152827 AI630903 BF513423 CR606126 AI628975 BQ440796 CA422859 BQ432490 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SNX3 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for SNX3

    (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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    SNX3 expression in normal human tissues (normalized intensities)      SNX3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGATTAAT
    SNX3 Expression
    About this image


    SNX3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 23) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
             Nucleus Pulposus
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)
             Thymus
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Primitive Streak (Early Embryonic Tissues)
             Notochord
    SNX3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNX3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.12102
        Custom PCR Arrays for SNX3
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SNX3
    OriGene qSTAR qPCR primer pairs in human, mouse for SNX3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SNX3
    QuantiTect SYBR Green Assays in human, mouse, rat SNX3
    QuantiFast Probe-based Assays in human, mouse, rat SNX3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNX3

    (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 and fungi.

    Orthologs for SNX3 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snx31 , 5 sorting nexin 31, 5 93.42(n)1
    100(a)1
      10 (22.89 cM)5
    541981  NM_017472.41  NP_059500.21 
     425020305 
    chicken
    (Gallus gallus)
    Aves SNX31 sorting nexin 3 83.33(n)
    93.83(a)
      421772  NM_001006408.1  NP_001006408.1 
    lizard
    (Anolis carolinensis)
    Reptilia SNX36
    sorting nexin 3
    96(a)
    1 ↔ 1
    1(190430239-190451448)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC685802 hypothetical protein MGC68580 79.34(n)    BC060460.1 
    zebrafish
    (Danio rerio)
    Actinopterygii snx31 sorting nexin 3 74.28(n)
    88.27(a)
      563511  NM_001037106.1  NP_001032183.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG63593 intracellular protein transport 70(a)   87C3   --
    worm
    (Caenorhabditis elegans)
    Secernentea W06D4.53 PhoX homologous domain, present in
    p47phox and more
    66(a)   I(9071506-9072611)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SNX3(YOR357C)4
    SNX31
    Sorting nexin required to maintain late-Golgi resident more4
    SNX31
    53.55(n)1
    51.64(a)1
      15(1009712-1009224)4
    8545391, 4  NP_015002.31  NP_015002.14 


    ENSEMBL Gene Tree for SNX3 (if available)
    TreeFam Gene Tree for SNX3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SNX3 gene
    SNX102  SNX112  SNX122  
    6 SIMAP similar genes for SNX3 using alignment to 1 protein entry:     SNX3_HUMAN:
    SNX12    SNX1    SNX11    SNX30    SNX2    SNX10

    SNX3 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SNX3
    PGOHUM00000241445 PGOHUM00000233673


    (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 SNX3 (see all 1024)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs744743031,2
    C,F--106152408(+) AAATGA/GAAGGG 2 -- us2k11Minor allele frequency- G:0.11WA 118
    rs1819615531,2
    --106152421(+) GATAAA/GTCAGG 2 -- us2k10--------
    rs1862304411,2
    --106152435(+) ATAGCC/GTAGTA 2 -- us2k10--------
    rs1447028501,2
    C--108530543(+) ATTAT-/AAAAGC 2 -- ds50010--------
    rs5324411,2
    C,F,A,H--108530763(-) TCTCTA/GTGAGT 2 -- ds5001 ese320Minor allele frequency- G:0.10EA NA MN NS WA 2666
    rs1905153381,2
    --108530909(+) TTTCCC/TTCATT 2 -- ut310--------
    rs5313931,2
    C,F,A,H--108530914(-) AGATTA/GATGAG 2 -- ut31 ese38Minor allele frequency- G:0.06EA NA NS WA 560
    rs1808619851,2
    --108530930(+) GTGAAG/TGGTAT 2 -- ut310--------
    rs758541521,2
    C,F--108530943(+) CAAGCC/TTGGAG 2 -- ut311Minor allele frequency- T:0.09WA 118
    rs744160101,2
    C--108531156(+) CACTGC/TAGATT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for SNX3 (108532426 - 108582464 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SNX3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657747CNV Deletion23128226
    nsv830766CNV Loss17160897

    Human Gene Mutation Database (HGMD): SNX3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SNX3
    DNA2.0 Custom Variant and Variant Library Synthesis for SNX3

    (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.)
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    OMIM gene information: 605930    OMIM disorders: --

    UniProtKB/Swiss-Prot: SNX3_HUMAN, O60493
  • Microphthalmia, syndromic, 8 (MCOPS8) [MIM:601349]: A very rare congenital syndrome characterized by
    microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been
    reported. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete
    bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in
    association with syndromes that include non-ocular abnormalities. Note=The gene represented in this entry may be
    involved in disease pathogenesis. A chromosomal aberration involving SNX3 has been found in patients with
    syndromic microphthalmia. Translocation t(6;13)(q21;q12)

  • 8 diseases for SNX3:    About MalaCards
    microphthalmia syndromic 8    microphthalmia    microcephaly    cleft lip
    alzheimer's disease    multiple myeloma    myeloma    cerebritis

    2 diseases from the University of Copenhagen DISEASES database for SNX3:
    Microphthalmia     Microcephaly

    SNX3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SNX3
    Human Genome Epidemiology (HuGE) Navigator: SNX3 (3 documents)

    Export disorders for SNX3 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 SNX3 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with SNX3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a family of sorting nexin molecules and characterization of their association with receptors. (PubMed id 9819414)1, 2, 3, 9 Haft C.R.... Taylor S.I. (Mol. Cell. Biol. 1998)
    2. Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. (PubMed id 12471201)1, 2, 9 Vervoort V.S.... Schwartz C.E. (J. Med. Genet. 2002)
    3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    4. Hrs and SNX3 functions in sorting and membrane invagination within multivesicular bodies. (PubMed id 18767904)1, 2 Pons V.... Gruenberg J. (PLoS Biol. 2008)
    5. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1, 4 Vieira A.R....Marazita M.L. (Genet. Med. 2008)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    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. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    10. SNX3 regulates endosomal function through its PX-domain-mediated interaction with PtdIns(3)P. (PubMed id 11433298)1, 2 Xu Y.... Hong W. (Nat. Cell Biol. 2001)

    (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: 8724 HGNC: 11174 AceView: SNX3 Ensembl:ENSG00000112335 euGenes: HUgn8724
    ECgene: SNX3 H-InvDB: SNX3

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for SNX3 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 SNX3 gene:
    Search GeneIP for patents involving SNX3

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



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