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

SOX10 Gene

protein-coding   GIFtS: 62
GCID: GC22M038366

SRY (Sex Determining Region Y)-Box 10

  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)
About This Section

Aliases
SRY (Sex Determining Region Y)-Box 101 2     mouse1
PCWH2 5     DOM2
WS42 5     WS2E2
WS4C2 5     Dominant Megacolon, Mouse, Human Homolog Of2
Dominant Megacolon1     SRY-Related HMG-Box Gene 102
Human Homolog Of1     Transcription Factor SOX-102

External Ids:    HGNC: 111901   Entrez Gene: 66632   Ensembl: ENSG000001001467   OMIM: 6022295   UniProtKB: P566933   

Export aliases for SOX10 gene to outside databases

Previous GC identifers: GC22M034982 GC22M036610 GC22M036611 GC22M036692 GC22M021334


(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 SOX10 Gene:
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, Jul 2008)

GeneCards Summary for SOX10 Gene: 
SOX10 (SRY (sex determining region Y)-box 10) is a protein-coding gene. Diseases associated with SOX10 include waardenburg syndrome type 4, and nodular malignant melanoma, and among its related super-pathways are Rho Family GTPases. GO annotations related to this gene include transcription factor binding and identical protein binding. An important paralog of this gene is SOX13.

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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SOX10 gene promoter:
         NF-1   NF-1/L   USF1   RREB-1   Lmo2   AP-2gamma   E47   AREB6   USF-1   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSOX10 promoter sequence
   Search SABiosciences Chromatin IP Primers for SOX10

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat 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 information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M038366:  view genomic region     (about GC identifiers)

Start:
38,366,693 bp from pter      End:
38,383,429 bp from pter
Size:
16,737 bases      Orientation:
minus strand

(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: 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

Explore proteomics data for SOX10 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P56693

  • SOX10 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SOX10 Protein Expression
    REFSEQ proteins: NP_008872.1  
    ENSEMBL proteins: 
     ENSP00000399777   ENSP00000380093   ENSP00000354130   ENSP00000414853  

    Human Recombinant Protein Products for SOX10: 
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    Novus Biologicals SOX10 Proteins
    Novus Biologicals SOX10 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SOX10 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ----
    GO:0031315extrinsic to mitochondrial outer membrane IEA--

    SOX10 for ontologies           About GeneDecksing



    SOX10 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for SOX10 

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    Cloud-Clone Corp. ELISAs for SOX10 
    Cloud-Clone Corp. CLIAs for SOX10


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SOX: SRY (sex determining region Y)-boxes

    2 InterPro protein domains:
     IPR009071 HMG_box_dom
     IPR022151 Sox_N

    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


    SOX10 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: 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)

         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

         Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA--
    GO:0000980RNA polymerase II distal enhancer sequence-specific DNA binding IEA--
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity ----
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
         
    SOX10 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SOX10:
     Increased cell death in HCC-19 

         12 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Sox10):
     behavior/neurological  cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size  integument  limbs/digits/tail  mortality/aging  nervous system 
     normal  pigmentation 

    SOX10 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SOX10 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SOX10

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SOX10 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SOX10 

    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate SOX10 (see all 16):
    hsa-miR-3678-3p hsa-miR-577 hsa-miR-3671 hsa-miR-596 hsa-miR-607 hsa-miR-4254 hsa-miR-185* hsa-miR-4272
    SwitchGear 3'UTR luciferase reporter plasmidSOX10 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SOX10
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX10


    (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

    SuperPaths for SOX10 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Rho Family GTPases
    Molecular Mechanisms of Cancer0.51
    2Transcription factors in neurogenesis
    Transcription factors in neurogenesis
    3Neural Crest Differentiation
    Neural Crest Differentiation
    4Melanocyte Development and Pigmentation
    Melanocyte Development and Pigmentation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SOX10
        Transcription factors in neurogenesis

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SOX10
        Molecular Mechanisms of Cancer
    Melanocyte Development and Pigmentation

    1 BioSystems Pathway for SOX10
        Neural Crest Differentiation



    SOX10 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SOX10

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

    5/39 Interacting proteins for SOX10 (P566931, 2, 3 ENSP000003541304) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2IP632792, 3, ENSP000003248974MINT-1781724 MINT-1781747 I2D: score=3 STRING: ENSP00000324897
    NMIQ132871, 3, ENSP000002433464EBI-1167533,EBI-372942 I2D: score=3 STRING: ENSP00000243346
    POU5F1Q018603, ENSP000002599154I2D: score=2 STRING: ENSP00000259915
    ENSG00000206454Q018603I2D: score=2 
    ENSG00000229094Q018603I2D: score=2 
    About this table

    Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001755neural crest cell migration IEA--
    GO:0002052positive regulation of neuroblast proliferation IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS9722528

    SOX10 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

    SOX10 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SOX10

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

    Search CenterWatch for drugs/clinical trials and news about SOX10

    (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 SOX10 gene: 
    NM_006941.3  

    Unigene Cluster for SOX10:

    SRY (sex determining region Y)-box 10
    Hs.376984  [show with all ESTs]
    Unigene Representative Sequence: BC018808
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000446929 ENST00000396884(uc003aun.1 uc010gxj.3) ENST00000360880(uc003auo.1)
    ENST00000427770 ENST00000470555
    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate SOX10 (see all 16):
    hsa-miR-3678-3p hsa-miR-577 hsa-miR-3671 hsa-miR-596 hsa-miR-607 hsa-miR-4254 hsa-miR-185* hsa-miR-4272
    SwitchGear 3'UTR luciferase reporter plasmidSOX10 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX10

    Additional mRNA 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 BM686200 D31042 AA424514 CF454503 BU172978 AI091073 BC007595 
    BC018808 Z41097 BQ230293 BE409129 BQ028363 BE207367 CR456584 BF514970 
    BC002824 BE278501 BE303023 BU173103 BU732691 BM904964 BU166276 BM471123 

    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

    SOX10 expression in normal human tissues (normalized intensities)      SOX10 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAACTCATTA
    SOX10 Expression
    About this image


    SOX10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/21 selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 42 entries
             Oligodendrocyte Precursor Cells Cerebral Cortex
             Lateral Ventricle
             Septum   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 15 entries
             Pro-myelinating Schwann Cells Peripheral Nerve Domain
             Schwann cells
             Schwann-like cells ( Derivation of neural crest cells and their progeny (MS-5 feeder...
             Human Perineurial Cells (HPC)   
             autonomic/parasympathetic   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 12 entries
             Cardiac Neural Crest Cells Cardiac Neural Crest
             PureStem 4D20.8, NCr-fac Progenitor
             HNK1+p75+ cells ( Derivation of neural crest cells and their progeny (MS-5 feeder...
     
     Neural Tube (Nervous System)    fully expand to see all 12 entries
             Oligodendrocyte Precursor Cells dP3 Neural Domain
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 7 entries
             Cranial Neural Crest Cells Branchial Arch 1
             Head Mesenchyme

    See SOX10 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SOX10

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including SOX10: 
              Cancer PathwayFinder in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX10

    (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.

    Orthologs for SOX10 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sox101 , 5 SRY-box containing gene 101, 5 91.42(n)1
    98.5(a)1
      15 (37.70 cM)5
    206651  NM_011437.11  NP_035567.11 
     791549135 
    chicken
    (Gallus gallus)
    Aves SOX101 SRY (sex determining region Y)-box 10 79.43(n)
    86.87(a)
      395573  NM_204792.1  NP_990123.1 
    lizard
    (Anolis carolinensis)
    Reptilia SOX106
    Uncharacterized protein
    84(a)
    1 ↔ 1
    GL343460.1(123233-153324)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3984222 transcription factor Sox10 75.8(n)    AY149116.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sox102 SRY-box containing gene 10 80.17(n)   140616  NM_131875.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sox100B3 DNA bending 47(a)   100B2   --


    ENSEMBL Gene Tree for SOX10 (if available)
    TreeFam Gene Tree for SOX10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SOX10 gene
    SOX132  SOX22  SOX42  SOX12  SOX142  SOX32  SOX92  SOX122  
    SOX152  SOX182  SOX52  ENSG000002587242  SOX212  SOX172  SOX62  SOX112  
    SOX82  SRY2  SOX72  
    18/24 SIMAP similar genes for SOX10 using alignment to 4 protein entries:     SOX10_HUMAN (see all proteins) (see all similar genes):
    SOX28    SOX14    SOX25    SOX26    soxB    SOX18
    SOX17    SOX27    SRY    SOX15    SOX5    SOX13
    SOX4    SOX7    SOX1    SOX11    SOX3    SOX9

    SOX10 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SOX10
    PGOHUM00000250547


    (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

    10/234 SNPs in SOX10 are shown (see all 234)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0667544
    Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH)4--see VAR_0667542 Q P mis40--------
    VAR_0667564
    Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH)4--see VAR_0667562 P L mis40--------
    VAR_0667474
    Waardenburg syndrome 4C (WS4C)4--see VAR_0667472 R W mis40--------
    VAR_0667514
    Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH)4--see VAR_0667512 K N mis40--------
    VAR_0213864
    Waardenburg syndrome 2E (WS2E)4--see VAR_0213862 S T mis40--------
    VAR_0667504
    Waardenburg syndrome 4C (WS4C)4--see VAR_0667502 L P mis40--------
    VAR_0667494
    Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH)4--see VAR_0667492 N H mis40--------
    VAR_0667584
    Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH)4--see VAR_0667582 G R mis40--------
    VAR_0667554
    Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH)4--see VAR_0667552 P A mis40--------
    VAR_0667484
    Waardenburg syndrome 2E (WS2E)4--see VAR_0667482 M I mis40--------

    HapMap Linkage Disequilibrium report for SOX10 (38366693 - 38383429 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SOX10:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv915053CNV Loss21882294
    nsv915035CNV Loss21882294


    Human Gene Mutation Database (HGMD): SOX10

    Locus Specific Mutation Databases (LSDB): SOX10
    2 SABiosciences Cancer Mutation PCR Assays for SOX10:
    Cosmic IdAA Change
    141713p.G413S
    141714p.G413D
    SeqTarget long-range PCR primers for resequencing SOX10
    DNA2.0 Custom Variant and Variant Library Synthesis for SOX10

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602229   
    OMIM disorders: 613266  611584  609136  
    UniProtKB/Swiss-Prot: SOX10_HUMAN, P56693
  • Waardenburg syndrome 2E (WS2E) [MIM:611584]: An autosomal dominant auditory-pigmentary disorder
    characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of
    dystopia canthorum which is the lateral displacement of the inner canthus of each eye. Individuals with WS2E may
    have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Waardenburg syndrome 4C (WS4C) [MIM:613266]: A disorder characterized by the association of Waardenburg
    features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine
    (Hirschsprung disease). Note=The disease is caused by mutations affecting the gene represented in this entry
  • Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and
    Hirschsprung disease (PCWH) [MIM:609136]: A complex neurocristopathy that includes features of 4 distinct
    syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and
    Hirschsprung disease. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/36 diseases for SOX10 (see all 36):    About MalaCards
    waardenburg syndrome type 4    nodular malignant melanoma    yemenite deaf-blind hypopigmentation syndrome    waardenburg syndrome type iie
    waardenburg syndrome, type 2e, with or without neurologic involvement    peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease    waardenburg syndrome type ivc    intestinal pseudo-obstruction
    waardenburg syndrome type 2    megacolon    malignant peripheral nerve sheath tumor    mobius syndrome
    congenital hypomyelination neuropathy    pilocytic astrocytoma    campomelic dysplasia    waardenburg's syndrome
    developmental disabilities    intestinal obstruction    hirschsprung's disease    disorders of sex development

    5 diseases from the University of Copenhagen DISEASES database for SOX10:
    Waardenburg's syndrome     Hirschsprung's disease     Sensorineural hearing loss     Neuropathy
    Melanoma

    SOX10 for disorders           About GeneDecksing

    10/22 Novoseek inferred disease relationships for SOX10 gene (see all 22)    About this table

    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)

    Genetic Association Database (GAD): SOX10
    Human Genome Epidemiology (HuGE) Navigator: SOX10 (7 documents)

    Export disorders for SOX10 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 SOX10 gene, integrated from 9 sources (see all 201):
    (articles sorted by number of sources associating them with SOX10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. (PubMed id 10441344)1, 2, 3, 9 Bondurand N....Goossens M. (1999)
    2. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. (PubMed id 9462749)1, 2, 3, 9 Pingault V.... Goossens M. (1998)
    3. Functional analysis of Sox10 mutations found in human Waardenburg- Hirschsprung patients. (PubMed id 9722528)1, 2, 9 Kuhlbrodt K.... Wegner M. (1998)
    4. Association of SOX10 with schizophrenia in the Japanese population. (PubMed id 17621166)1, 4, 9 Maeno N....Ozaki N. (2007)
    5. 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, 9 Huber W.E....Fisher D.E. (2003)
    6. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. (PubMed id 17999358)1, 2, 9 Bondurand N.... Pingault V. (2007)
    7. A family-based and case-control association study of SOX10 in schizophrenia. (PubMed id 16741945)1, 4, 9 Iwamoto K....Kato T. (2006)
    8. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. (PubMed id 10762540)1, 2, 9 Touraine R.L.... Lyonnet S. (2000)
    9. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. (PubMed id 10482261)1, 4, 9 Inoue K....Lupski J.R. (1999)
    10. Frequent Mutations in the MITF Pathway in Melanoma. (PubMed id 19422606)1, 4, 9 Cronin J.C....Samuels Y. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6663 HGNC: 11190 AceView: SOX10 Ensembl:ENSG00000100146 euGenes: HUgn6663
    ECgene: SOX10 H-InvDB: SOX10

    (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 SOX10 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SOX10 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
    Patent Information for SOX10 gene:
    Search GeneIP for patents involving SOX10

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



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