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SOX10 Gene

protein-coding   GIFtS: 62

GC22M021334
SRY (sex determining region Y)-box 10
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
SRY (sex determining region Y)-box 101 2     SRY-related HMG-box gene 102
WS41 2 5     OTTHUMP000001950972
DOM1 2     OTTHUMP000001950942
WS2E1 2     dominant megacolon, mouse, human homolog of2
PCWH2 5     transcription factor SOX-102
WS4C2 5     MGC156492

External Ids:    HGNC: 111901   Entrez Gene: 66632   Ensembl: ENSG000001001467   UniProtKB: P566933   

Export aliases for SOX10 gene to outside databases

Previous GC identifers: GC22M034982 GC22M036610 GC22M036611 GC22M036692 GC22M038366


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SOX10:
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation
of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional
activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle
protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are
associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. (provided by RefSeq)

UniProtKB/Swiss-Prot: SOX10_HUMAN, P56693
Function: Transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP.
Could confer cell specificity to the function of other transcription factors in developing and mature glia (By
similarity)

Gene Wiki entry for SOX10

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SOX10 gene promoter:
         SRY   c-Myc   Max1   Max   SREBP-1a   SREBP-1c   SREBP-1b   YY1   Elk-1   CREB   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for SOX10

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for SOX10 


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

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q13.1

SOX10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOX10 gene location

GeneLoc gene densities for chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M021334:  view genomic region     (about GC identifiers)

Start:
21,334,376 bp from pter
End:
21,346,534 bp from pter
Size:
12,159 bases
Orientation:
minus strand

1 alternative location:
Chr22- 38,366,693-38,383,429     
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: SOX10_HUMAN, P56693 (See protein sequence)
Recommended Name: Transcription factor SOX-10  
Size: 466 amino acids; 49911 Da
Subcellular location: Cytoplasm. Nucleus

Explore the universe of human proteins at neXtProt for SOX10: NX_P56693 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_008872.1  

    ENSEMBL proteins: 
    ENSP00000387770 ENSP00000354130 ENSP00000399777 ENSP00000414853 ENSP00000409273 ENSP00000415987 
    ENSP00000380093 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: SOX10
    OriGene Protein Over-expression Lysate: SOX10
    GenScript Custom Purified and Recombinant Proteins Services for SOX10 
    Novus Biologicals Proteins for SOX10
    Novus Biologicals Lysates for SOX10
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    2 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus ISS--
    GO:0005737 cytoplasm IEA--
    About this table

    SOX10 for ontologies           About GeneDecksing



    Antibodies for SOX10: 
    Millipore Mono- and Polyclonal Antibodies for the study of SOX10
    Sigma-Aldrich Antibodies for SOX10
    R&D Systems Antibodies for SOX10
    OriGene Antibodies: SOX10
    GenScript Superior Antibodies for SOX10 
    Novus Biologicals Antibodies for SOX10
    Epitomics antibodies for SOX10

    Assays for SOX10: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SOX10 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for SOX10 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SOX10 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR022151 Sox_N
     IPR000910 HMG_HMG1/HMG2
     IPR009071 HMG_superfamily

    Graphical View of Domain Structure for InterPro Entry P56693

    ProtoNet protein and cluster: P56693

    UniProtKB/Swiss-Prot: SOX10_HUMAN, P56693
    Similarity: Contains 1 HMG box DNA-binding domain


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: SOX10_HUMAN, P56693
    Function: Transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP.
    Could confer cell specificity to the function of other transcription factors in developing and mature glia (By
    similarity)

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for SOX10
    Sigma-Aldrich shRNA for SOX10
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): SOX10
    OriGene shRNA RFP (see all 2): SOX10
    OriGene basic RS shRNA (see all 2): SOX10
    OriGene siRNA (see all 2): SOX10
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of SOX10 
    miRNA:Sigma-Aldrich microRNA Mimics for SOX10
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of SOX10 
    1 SABiosciences Assays for microRNA that regulate SOX10:
    hsa-miR-486-3p

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: SOX10
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: SOX10
    OriGene untagged cDNA clones in CMV expression vector (see all 2): SOX10
    OriGene 3'-UTR clone: SOX10 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: SOX10 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for SOX10 

    Genatlas biochemistry entry for SOX10:
    SRY related HMG box gene 10,expressed in neural crest cells during early development and in glial cells of the
    peripheral and central nervous system during late development and in adult,playing an essential role in the
    development of neural-crest-derived human cell lineages,homolog to mouse dominant megacolon (Dom),expressed in
    pancreas,prostate,ovary,stomach,spinal cord trachea,adrenal gland and brain,modulator of LINE retroposons promoter
    activity

    5/9 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 9):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677 DNA binding IEA--
    GO:0003682 chromatin binding IEA--
    GO:0003700 sequence-specific DNA binding transcription factor activity IEA--
    GO:0003702 RNA polymerase II transcription factor activity TAS9722528
    GO:0003705 sequence-specific enhancer binding RNA polymerase II transcription factor activity IEA--
    About this table

    SOX10 for ontologies           About GeneDecksing

    Animal Models: 13 MGI mutant phenotypes (inferred from 11 alleles(MGI details for Sox10):

    behavior/neurologicaldigestive/alimentaryembryogenesisendocrine/exocrine glandgrowth/size
    lethality-postnatallethality-prenatal/perinatallife span-post-weaning/agingnervous systemnormal
    pigmentationskin/coat/nailstouch/vibrissae

    SOX10 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    SOX10 for pathways           About GeneDecksing

    1 Millipore Pathway for SOX10
        Transcription factors in neurogenesis

    2 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  SOX10
        Melanocyte Development and Pigmentation Signaling
    Wnt/β-catenin Signaling

        SABiosciences Pathway-Focused PCR Array including SOX10: PAHS-090A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for SOX10
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SOX10

    5/7 Interacting proteins for SOX10 (P566931, 2 ENSP000003541303) via UniProtKB, MINT, and/or STRING (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PAX3P237601, ENSP000003430523EBI-1167533,EBI-1167564 STRING: ENSP00000343052
    NMIQ132871EBI-1167533,EBI-372942
    POU3F2P202651EBI-1167533,EBI-1167176
    SOX10P566931EBI-1167533,EBI-1167533
    SUMO1P631652MINT-1781820 MINT-1781773
    About this table

    5/15 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 15):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701 in utero embryonic development IEA--
    GO:0006355 regulation of transcription, DNA-dependent ----
    GO:0006357 regulation of transcription from RNA polymerase II promoter TAS9722528
    GO:0007422 peripheral nervous system development IEA--
    GO:0009653 anatomical structure morphogenesis TAS9425902
    About this table

    SOX10 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    SOX10 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SOX10
    1 Novoseek chemical compound relationship for SOX10 gene
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dopachrome 61.2 4 14706856 (2), 17702866 (1)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for SOX10
    Sigma-Aldrich shRNA for SOX10
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): SOX10
    OriGene shRNA RFP (see all 2): SOX10
    OriGene basic RS shRNA (see all 2): SOX10
    OriGene siRNA (see all 2): SOX10
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of SOX10 
    miRNA: Sigma-Aldrich microRNA Mimics for SOX10
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of SOX10 
    1 SABiosciences Assays for microRNA that regulate SOX10:
    hsa-miR-486-3p
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: SOX10
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: SOX10
    OriGene untagged cDNA clones in CMV expression vector (see all 2): SOX10
    OriGene 3'-UTR Clone: SOX10 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: SOX10 
    Primers: OriGene genome-wide validated SYBR primer pairs: SOX10
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for SOX10: PPH02458A

    REFSEQ mRNAs for SOX10 gene: 

    NM_006941.3  

    Additional cDNA sequence: 

    AJ001183.1 AK300945.1 AK310896.1 BC002824.2 BC007595.1 BC018808.2 BT020029.1 CR456584.1 
    CR536571.1 

    8 DOTS entries:

    DT.443371  DT.97855387  DT.120675719  DT.100744195  DT.92068729  DT.91676437  DT.120675721  DT.100741894 

    24/163 AceView cDNA sequences (see all 163):

    BE856412 BQ230293 NM_006941 CF454503 BQ028363 BM904964 BC007595 BU732691 
    BU172978 BF514970 D31042 BU150088 D31002 BM686200 AA424514 BU173103 
    BM662786 BC018808 Z41097 CR456584 AI091073 BE207367 BE303023 BM471123 

    highest scoring ESTs for SOX10:

    AJ001183 AL120196 BC007595 BC018808 BE302440 BE303023 BG033218 BG334183 BG767546 BG912495 

    Unigene Cluster for SOX10:

    SRY (sex determining region Y)-box 10
    Hs.376984  [show with all ESTs]
    Unigene Representative Sequence: BC018808


    GeneLoc Exon Structure

    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000416937 ENST00000360880(uc003auo.1) ENST00000446929 ENST00000470555
    ENST00000427770 ENST00000414471 ENST00000435010(uc010gxj.2) ENST00000396884(uc003aun.1)


    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    SOX10 expression in normal and diseased human tissues

    1  / 2  / 3

    5 probe-sets matching SOX10 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    36018_at2, 3 U95-A 1 0.88 1.00 1.00 1.00 AJ001183 1.00 1.00 1.00 1
    209842_at2, 3 U133-A 1 1.00 1.00 -- -- AI367319 0.40 1.00 0.76 1
    209843_s_at2, 3 U133-A 1 1.00 1.00 -- -- BC002824 0.60 1.00 0.82 1
    209842_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    209843_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    SOX10 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    SOX10 gene expression
    SOX10 gene electronic northern expression
    SOX10 gene sage expression
    About these images

    CGAP SAGE TAG: TAACTCATTA

    SOURCE GeneReport for Unigene cluster: Hs.376984

    UniProtKB/Swiss-Prot: SOX10_HUMAN, P56693
    Tissue specificity: Expressed in fetal brain and in adult brain, heart, small intestine and colon

    Primers: OriGene genome-wide validated SYBR primer pairs: SOX10
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for SOX10: PPH02458A
        SABiosciences Expression via Pathway-Focused PCR Array including SOX10: PAHS-090A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for SOX10 gene from 5/10 species (see all 10)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    SOX101   -- SRY (sex determining region Y)-box 10 94.56(n)
    99.14(a)
    481258  XM_538379.2  XP_538379.2 
    chimpanzee
    (Pan troglodytes)
    SOX101   -- SRY (sex determining region Y)-box 10 99.41(n)
    99.29(a)
    470206  XM_525590.2  XP_525590.2 
    cow
    (Bos taurus)
    SOX101   -- SRY (sex determining region Y)-box 10 93.13(n)
    98.71(a)
    353115  XM_879306.2  XP_884399.2 
    rat
    (Rattus norvegicus)
    Sox101   -- SRY (sex determining region Y)-box 10 91.49(n)
    97.42(a)
    29361  NM_019193.1  NP_062066.1 
    mouse
    (Mus musculus)
    Sox101 , 5 15 (37.70 cM)5
    SRY-box containing gene 101, 5 91.42(n)1
    98.5(a)1
    206651  XM_128139.61  XP_128139.51 
     AF0171825  AF0470435  (see all 36)
    About this table        Species with no ortholog for SOX10

    ENSEMBL Gene Tree for SOX10 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for SOX10 gene
    SOX132  SOX52  SOX92  SOX62  SOX82  

    SOX10 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/92 NCBI SNPs in SOX10 are shown (see all 92)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 22 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs1398831,2
    C,F,O,A,38369027(+) AGCTCT/CGGGCA 1 -- ut31 ese314Minor allele frequency- C:0.31MN NS EA NA WA 1812
    rs1398841,2
    C,F,O,A,38369976(+) CTCACG/ATGGCC 2 /H syn1 ref121Minor allele frequency- A:0.30EA NA MN NS WA 2056
    rs1398851,2
    C,F,A,H,38371039(+) TCATAT/CGCTGG 1 -- int19Minor allele frequency- C:0.36MN EA NS NA WA 560
    rs1398861,2
    C,F,A,H,38371328(+) ggagaT/Ccagag 1 -- int110Minor allele frequency- C:0.38MN NS EA NA WA 614
    rs1398871,2
    C,F,A,H,38371396(+) tgagtC/Ggggtg 1 -- int121Minor allele frequency- G:0.39EA NA MN NS WA 1430
    rs27449811,2
    --38381859(+) acacaC/Tatgct 1 -- ng510--------
    rs30266451,2
    C,F,O,38375839(+) TGGTAC/GTGAGA 1 -- int114Minor allele frequency- N:0.00NA NS EA 1294
    rs30266461,2
    --38376780(+) TGATTC/GCTCAC 1 -- int10--------
    rs30266471,2
    C,F,38377246(+) CAGCTT/CGGGGA 1 -- int15Minor allele frequency- C:0.02NS EA WA 468
    rs30266481,2
    C,38377847(+) TGGTCA/GCTGAG 1 -- int10--------
    About this table

    HapMap Linkage Disequilibrium images for SOX10 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SOX10: --

    QIAGEN SeqTarget long-range PCR primers for resequencing SOX10 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SOX10 for disorders           About GeneDecksing

    OMIM: 602229   disorders: 613266  611584  609136  

    UniProtKB/Swiss-Prot: SOX10_HUMAN, P56693

  • Defects in SOX10 are the cause of Waardenburg syndrome type 2E (WS2E) [MIM:611584]. WS2 is a genetically
  • heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and
    absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1
  • Defects in SOX10 are a cause of Waardenburg syndrome type 4C (WS4C) [MIM:613266]; also known as
  • Waardenburg-Shah syndrome. WS4C is characterized by the association of Waardenburg features (depigmentation and
    deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease)
  • Defects in SOX10 are a cause of Yemenite deaf-blind hypopigmentation syndrome (YDBHS) [MIM:601706]. YDBHS
  • consists of cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing
    loss. Another case observed in a girl with similar skin symptoms and hearing loss but without microcornea or coloboma
    is reported as a mild form of this syndrome
  • Defects in SOX10 are the cause of peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy,
  • Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136]; also called neurologic variant of Waardenburg-Shah
    syndrome. PCWH is a rare, complex and more severe neurocristopathy that includes features of 4 distinct syndromes:
    peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung
    disease

    10/22 Novoseek disease relationships for SOX10 gene (see all 22)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shah-waardenburg syndrome 97.6 25 12447940 (2), 10876038 (1), 20130826 (1), 9462749 (1) (see all 21)
    waardenburgs syndrome 91.9 14 16504559 (2), 10982026 (2), 18348267 (2), 17855451 (1) (see all 11)
    yemenite deaf-blind hypopigmentation syndrome 89.4 3 10441344 (2), 16921166 (1)
    hirschsprung disease 87.6 33 15294878 (3), 20130826 (2), 15843399 (2), 16330480 (2) (see all 18)
    leukodystrophy 69.5 4 17855451 (1), 16504559 (1), 20308050 (1), 17999358 (1)
    campomelic dysplasia 68.8 1 10798354 (1)
    charcot-marie-tooth disease 61.9 2 11734543 (2)
    congenital disorders 60.4 1 20130826 (1)
    colonic aganglionosis 59.4 1 11685702 (1)
    oligodendroglioma 56.2 2 17146289 (1), 17442061 (1)
    About this table

    Locus Specific Mutation Databases (LSDB): SOX10
    Human Gene Mutation Database (HGMD): SOX10
    Genetic Association Database (GAD): SOX10
    Human Genome Epidemiology (HuGE) Navigator: SOX10 (5 documents)

    Export disorders and mutations for SOX10 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
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    10/175 PubMed articles for SOX10 gene, integrated from 7 sources (see all 175):
    (articles sorted by number of sources associating them with SOX10)
    1. A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. (PubMed id 10441344)1, 2, 3, 7 Bondurand N....Goossens M. (1999)
    2. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. (PubMed id 9462749)1, 2, 3, 7 Pingault V.... Goossens M. (1998)
    3. Functional analysis of Sox10 mutations found in human Waardenburg- Hirschsprung patients. (PubMed id 9722528)1, 2, 7 Kuhlbrodt K.... Wegner M. (1998)
    4. A tissue-restricted cAMP transcriptional response: SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes. (PubMed id 12944398)1, 3, 7 Huber W.E....Fisher D.E. (2003)
    5. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. (PubMed id 17999358)1, 2, 7 Bondurand N.... Pingault V. (2007)
    6. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. (PubMed id 10762540)1, 2, 7 Touraine R.L.... Lyonnet S. (2000)
    7. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. (PubMed id 10482261)1, 4, 7 Inoue K....Lupski J.R. (1999)
    8. The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor. (PubMed id 9760192)1, 2, 7 Pusch C.... Scherer G. (1998)
    9. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    10. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. (PubMed id 15004559)1, 2 Inoue K....Lupski J.R. (2004)

    (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)
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    Entrez Gene: 6663 HGNC: 11190 AceView: SOX10 Ensembl:ENSG00000100146 euGenes: HUgn6663
    ECgene: SOX10 H-InvDB: SOX10

    (According to HUGE)
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    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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    Patent Information for SOX10 gene:
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