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

SNX10 Gene

protein-coding   GIFtS: 49
GCID: GC07P026331

Sorting Nexin 10

  See related disease
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
Sorting Nexin 101 2
OPTB82
Sorting Nexin-102

External Ids:    HGNC: 149741   Entrez Gene: 298872   Ensembl: ENSG000000863007   OMIM: 6147805   UniProtKB: Q9Y5X03   

Export aliases for SNX10 gene to outside databases

Previous GC identifers: GC07P025975 GC07P026073 GC07P026104 GC07P026298 GC07P026213


(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 SNX10 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. This gene may play a role in regulating endosome
homeostasis. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Dec 2010)

GeneCards Summary for SNX10 Gene: 
SNX10 (sorting nexin 10) is a protein-coding gene. Diseases associated with SNX10 include osteopetrosis. GO annotations related to this gene include 1-phosphatidylinositol binding. An important paralog of this gene is SNX3.

UniProtKB/Swiss-Prot: SNX10_HUMAN, Q9Y5X0
Function: Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in
endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins
to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A.
Involved in osteoclast differentiation and therefore bone resorption




(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_000007.13  NC_018918.2  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SNX10 gene promoter:
         TBP   AP-1   POU3F2   C/EBPalpha   GATA-1   GATA-2   CHOP-10   SRY   NF-kappaB2   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SNX10 promoter sequence
   Search SABiosciences Chromatin IP Primers for SNX10

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNX10


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

Entrez Gene cytogenetic band: 7p15.2   Ensembl cytogenetic band:  7p15.2   HGNC cytogenetic band: 7p15.2

SNX10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNX10 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P026331:  view genomic region     (about GC identifiers)

Start:
26,331,515 bp from pter      End:
26,413,949 bp from pter
Size:
82,435 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 26,382,693-26,465,116     

(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: SNX10_HUMAN, Q9Y5X0 (See protein sequence)
Recommended Name: Sorting nexin-10  
Size: 201 amino acids; 23598 Da
Subunit: Interacts with ATP6V1D; may play a role in ciliogenesis
Subcellular location: Cytoplasm. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm,
cytoskeleton, microtubule organizing center, centrosome. Note=May also localize to nucleus and endoplasmic
reticulum
Secondary accessions: E9PFH5 Q8IYT5
Alternative splicing: 2 isoforms:  Q9Y5X0-1   Q9Y5X0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SNX10: NX_Q9Y5X0

Explore proteomics data for SNX10 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y5X0

  • SNX10 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SNX10 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001186764.1  NP_001186766.1  NP_001186767.1  NP_037454.2  

    ENSEMBL proteins: 
     ENSP00000408164   ENSP00000343709   ENSP00000393690   ENSP00000379661   ENSP00000387274  
     ENSP00000386540   ENSP00000395474  

    Human Recombinant Protein Products for SNX10: 
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    Novus Biologicals SNX10 Protein
    Novus Biologicals SNX10 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SNX10 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005783endoplasmic reticulum IDA--
    GO:0005813colocalizes with centrosome IDA--
    GO:0031313extrinsic to endosome membrane IDA17012226

    SNX10 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SNX: Sorting nexins

    1 InterPro protein domain:
     IPR001683 Phox

    Graphical View of Domain Structure for InterPro Entry Q9Y5X0

    ProtoNet protein and cluster: Q9Y5X0

    1 Blocks protein domain: IPB001683 Phox-like

    UniProtKB/Swiss-Prot: SNX10_HUMAN, Q9Y5X0
    Domain: The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3-phosphate
    Similarity: Belongs to the sorting nexin family
    Similarity: Contains 1 PX (phox homology) domain


    SNX10 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: SNX10_HUMAN, Q9Y5X0
    Function: Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in
    endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins
    to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A.
    Involved in osteoclast differentiation and therefore bone resorption

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:00055451-phosphatidylinositol binding IMP17012226
    GO:0035091phosphatidylinositol binding ----
    GO:0051117ATPase binding IPI--
         
    SNX10 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SNX10:
     Synthetic lethal with Ras  Synthetic lethal with imatinib 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SNX10 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SNX10

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SNX10 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SNX10 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SNX10
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate SNX10 (see all 17):
    hsa-miR-30c hsa-miR-513a-5p hsa-miR-30d hsa-miR-944 hsa-miR-570 hsa-miR-141* hsa-miR-30a hsa-miR-1323
    SwitchGear 3'UTR luciferase reporter plasmidSNX10 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SNX10
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNX10


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SNX10

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for SNX10 (ENSP000003437094) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007032endosome organization IMP17012226
    GO:0007154cell communication IEA--
    GO:0015031protein transport IEA--
    GO:0030316osteoclast differentiation ISS--
    GO:0042384cilium assembly IMP--

    SNX10 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 SNX10

    Search CenterWatch for drugs/clinical trials and news about SNX10

    (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 SNX10 gene (4 alternative transcripts): 
    NM_001199835.1  NM_001199837.1  NM_001199838.1  NM_013322.2  

    Unigene Cluster for SNX10:

    Sorting nexin 10
    Hs.741316  [show with all ESTs]
    Unigene Representative Sequence: BX648363
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000416246 ENST00000338523(uc011jzg.2 uc003sxx.3 uc010kuu.3)
    ENST00000412416 ENST00000396376(uc010kuv.3 uc010kuw.3) ENST00000409367
    ENST00000409838 ENST00000462993 ENST00000446848
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SNX10
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate SNX10 (see all 17):
    hsa-miR-30c hsa-miR-513a-5p hsa-miR-30d hsa-miR-944 hsa-miR-570 hsa-miR-141* hsa-miR-30a hsa-miR-1323
    SwitchGear 3'UTR luciferase reporter plasmidSNX10 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SNX10
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SNX10
    Clone
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    OriGene clones in human, mouse for SNX10 (see all 7)
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    GenScript: all cDNA clones in your preferred vector (see all 4): SNX10 (NM_001199837)
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    Sirion Biotech Customized lentivirus for stable overexpression of SNX10 
                         Customized lentivirus expression plasmids for stable overexpression of SNX10 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SNX10
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SNX10
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SNX10
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNX10

    Additional mRNA sequence: 

    AF121860.1 AK296142.1 AK307905.1 AK309162.1 AK311256.1 AK312850.1 AK316088.1 BC031050.1 
    BC034992.1 BX648363.1 NR_037670.1 

    10 DOTS entries:

    DT.449358  DT.100775158  DT.91919321  DT.121040657  DT.121040650  DT.100024126  DT.121040639  DT.121040707 
    DT.121040708  DT.92436536 

    24/160 AceView cDNA sequences (see all 160):

    CR612403 AA298252 AI245676 AF121860 BQ787682 AI962011 Z40665 CB112375 
    NM_013322 AA441938 AA258005 AV717007 AA223991 AA279300 AL519882 BU160208 
    AA808370 Z41707 BF000784 AL533521 F07443 BC034992 T35142 Z44623 

    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™, 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

    SNX10 expression in normal human tissues (normalized intensities)      SNX10 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCATCCAGGC
    SNX10 Expression
    About this image


    SNX10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Line H9 (WA09)
     
     Heart (Cardiovascular System)
             Mature Cardiac Fibroblasts Myocardium
     
     Endothelium (Cardiovascular System)
             Peripheral blood-derived early endothelial progenitor cells
     
     Kidney (Urinary System)
             Human Renal Proximal Tubular Epithelial Cells (HRPTEpiC)   
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum

    See SNX10 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SNX10

    SOURCE GeneReport for Unigene cluster: Hs.741316
        SABiosciences Custom PCR Arrays for SNX10
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNX10

    (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 and fungi.

    Orthologs for SNX10 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snx101 , 5 sorting nexin 101, 5 88.23(n)1
    95.52(a)1
      6 (24.95 cM)5
    719821  NM_028035.41  NP_082311.31 
     515239015 
    chicken
    (Gallus gallus)
    Aves SNX101 sorting nexin 10 75.67(n)
    76(a)
      420628  NM_001030986.1  NP_001026157.1 
    lizard
    (Anolis carolinensis)
    Reptilia SNX106
    Uncharacterized protein
    73(a)
    1 ↔ 1
    6(31897031-31939674)
    African clawed frog
    (Xenopus laevis)
    Amphibia BI448334.12   -- 73.52(n)    BI448334.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC055622.12   -- 74.24(n)    BC055622.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SNX36
    Sorting nexin required to maintain late-Golgi resi...
    25(a)
    1 → many
    XV(1009224-1009712)


    ENSEMBL Gene Tree for SNX10 (if available)
    TreeFam Gene Tree for SNX10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SNX10 gene
    SNX32  SNX112  SNX122  
    4 SIMAP similar genes for SNX10 using alignment to 8 protein entries:     SNX10_HUMAN (see all proteins):
    SNX11    SNX3    SNX12    SNX30

    SNX10 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) 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

    10/1712 SNPs in SNX10 are shown (see all 1712)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0693024
    Osteopetrosis, autosomal recessive 8 (OPTB8)4--see VAR_0693022 R Q mis40--------
    VAR_0692994
    Osteopetrosis, autosomal recessive 8 (OPTB8)4--see VAR_0692992 R L mis40--------
    VAR_0693004
    Osteopetrosis, autosomal recessive 8 (OPTB8)4--see VAR_0693002 Y S mis40--------
    VAR_0693014
    Osteopetrosis, autosomal recessive 8 (OPTB8)4--see VAR_0693012 R P mis40--------
    rs676207261,2
    C--26292432(+) CTGTT-/CTGTCTT 5 -- int12Minor allele frequency- CT:0.25NA 4
    rs25627951,2
    C,F,A,H--26329554(+) CTGGGT/ATTACA 3 -- us2k14Minor allele frequency- A:0.29NA WA CSA 7
    rs1176783071,2
    C,F--26329648(+) CCTGAT/CGATCC 3 -- us2k11Minor allele frequency- C:0.09EA 120
    rs1894942611,2
    --26329733(+) ACCACC/TGTAGA 3 -- us2k10--------
    rs1924844571,2
    --26329791(+) AACCTA/GAAAAA 3 -- us2k10--------
    rs413472441,2
    C,F,H--26329808(-) CTTAAG/CTGATG 3 -- us2k123Minor allele frequency- C:0.14NS EA NA 2376

    HapMap Linkage Disequilibrium report for SNX10 (26331515 - 26413949 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SNX10:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2631761CNV Insertion19546169
    esv271767CNV Insertion20981092
    nsv366364CNV Loss16902084
    nsv7393OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): SNX10
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SNX10
    DNA2.0 Custom Variant and Variant Library Synthesis for SNX10

    (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: 614780    OMIM disorders: --

    UniProtKB/Swiss-Prot: SNX10_HUMAN, Q9Y5X0
  • Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085]: A rare genetic disease characterized by
    abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe
    autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form
    occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with
    macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and
    hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.
    OPTB8 is clinically characterized by dense bones with no distinction between outer and inner plates, due to
    extensive encroachment of cortical bone into the medullary space, increased head circumference, broad open
    fontanelle, frontal bossing, and hepatosplenomegaly. Osteoclasts number is low and their bone resorptive capacity
    is impaired. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 2 diseases for SNX10:    About MalaCards
    osteopetrosis    

    1 disease from the University of Copenhagen DISEASES database for SNX10:
    Osteopetrosis

    SNX10 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SNX10

    Export disorders for SNX10 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 SNX10 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with SNX10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sorting nexin 10 induces giant vacuoles in mammalian cells. (PubMed id 17012226)1, 2, 3, 9 Qin B....Pei D. (2006)
    2. A SNX10/V-ATPase pathway regulates ciliogenesis in vit ro and in vivo. (PubMed id 21844891)1, 2 Chen Y....Pei D. (2012)
    3. SNX10 is required for osteoclast formation and resorpt ion activity. (PubMed id 22174188)1, 2 Zhu C.H....Battaglino R.A. (2012)
    4. An SNX10 mutation causes malignant osteopetrosis of in fancy. (PubMed id 22499339)1, 2 Aker M....Elpeleg O. (2012)
    5. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    6. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    7. A large family of endosome-localized proteins related to sorting nexin 1. (PubMed id 11485546)1, 2 Teasdale R.D.... Gleeson P.A. (2001)
    8. Structure of Sorting Nexin 11 (SNX11) reveals a novel extended PX Domain (PXe Domain) critical for the inhibition of Sorting Nexin 10 (SNX10) induced vacuolation. (PubMed id 23615901)1 Xu J.... Liu J. (2013)
    9. SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. (PubMed id 23280965)2 Pangrazio A.... Sobacchi C. (2013)
    10. Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. (PubMed id 23123320)2 Megarbane A.... Sobacchi C. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 29887 HGNC: 14974 AceView: SNX10 Ensembl:ENSG00000086300 euGenes: HUgn29887
    ECgene: SNX10 H-InvDB: SNX10

    (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 SNX10 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 SNX10 gene:
    Search GeneIP for patents involving SNX10

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



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