Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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
 Explore 37 diseases affiliated with
SOX10 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SOX10    

Aliases
for SOX10 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SRY (Sex Determining Region Y)-Box 101 2     WS4C2 5
WS41 2 5     Dominant Megacolon, Mouse, Human Homolog Of2
DOM1 2     SRY-Related HMG-Box Gene 102
WS2E1 2     Transcription Factor SOX-102
PCWH2 5     

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


Summaries
for SOX10 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
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 plasmid: SOX10 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

Proteins
for SOX10 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P56693

    • SOX10 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_008872.1  
    ENSEMBL proteins: 
     ENSP00000399777   ENSP00000380093   ENSP00000354130   ENSP00000414853  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    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
    OriGene Custom Protein Services for SOX10 
    GenScript Custom Purified and Recombinant Proteins Services for SOX10
    Novus Biologicals SOX10 Proteins
    Novus Biologicals SOX10 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SOX10
    R&D Systems Antibodies for SOX10
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SOX10 
    GenScript Superior Antibodies for SOX10
    Novus Biologicals SOX10 Antibodies
    Abcam antibodies for SOX10 
    Uscn Antibodies for SOX10
    Search ThermoFisher Antibodies for SOX10

    Assay Products for SOX10: 
    Browse Kits and Assays available from EMD Millipore
    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

    Protein Domains /
    Families
    for SOX10 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SOX10 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR009071 HMG_superfamily
     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


    Function
    for SOX10 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: SOX10
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOX10
    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 plasmid: SOX10 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOX10 (see all 4)
    OriGene shRNA RFP: SOX10
    OriGene siRNA: SOX10
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX10

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SOX10

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOX10 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SOX10 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: SOX10 (NM_006941)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX10 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for SOX10
    LifeMap BioReagents: cell line associated with SOX10: PureStem 4D20.8, NCr-fac Progenitor

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX10

    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


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

    Animal Models:
         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


    Pathways & Interactions
    for SOX10 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Transcription factors in neurogenesis
    		Transcription factors in neurogenesis1.00
    2Neural Crest Differentiation
    		Neural Crest Differentiation1.00
    3Melanocyte Development and Pigmentation
    		Melanocyte Development and Pigmentation1.00
    4Rho Family GTPases
    		Molecular Mechanisms of Cancer0.51

    Pathway sources
    See GeneCards unified pathways
    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)

    5/33 Interacting proteins for SOX10 (P566931, 2, 3 ENSP000003541304) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    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
    SUMO1P631652, 3, ENSP000003760764MINT-1781820 MINT-1781773 I2D: score=3 STRING: ENSP00000376076
    PAX3P237601, 3, ENSP000003759214EBI-1167533,EBI-1167564 I2D: score=3 STRING: ENSP00000375921
    POU3F2P202651, 3, ENSP000003291704EBI-1167533,EBI-1167176 I2D: score=3 STRING: ENSP00000329170
    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



    Drugs & Compounds
    for SOX10 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for SOX10 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    Products:             		 OriGene 3'-UTR Clone: SOX10
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOX10
    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 plasmid: SOX10 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOX10 (see all 4)
    OriGene shRNA RFP: SOX10
    OriGene siRNA: SOX10
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX10
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOX10 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SOX10 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: SOX10 (NM_006941)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX10 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SOX10
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SOX10
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX10
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX10

    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):

    BU166276 BC018808 AI091073 BE409129 AA424514 CF454503 CR456584 Z41097 
    BU172978 BE207367 BM686200 BQ028363 BE278501 BQ230293 BM471123 BU156246 
    BM904964 BE303023 D31042 BU150088 BE856412 BU732691 D31002 BM662786 

    GeneLoc Exon Structure


    Expression
    for SOX10 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAACTCATTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SOX10 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/18 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 18) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    Head MesenchymeBranchial Arch 2Cranial Neural Crest CellsNeural Crest
    Head MesenchymeHead MesenchymeRhombencephalic Neural Crest CellsNeural Crest
    Head MesenchymePrechordal MesenchymeDiencephalic Neural Crest CellsNeural Crest
    Head MesenchymePrechordal MesenchymeMesencephalic Neural Crest CellsNeural Crest
    Neural CrestCardiac Neural CrestCardiac Neural Crest CellsNeural Crest
    Neural CrestCranial Neural CrestCranial Neural Crest CellsNeural Crest
    Neural CrestTrunk Neural CrestDorsal Root GangliaNeural Crest
    Neural CrestTrunk Neural CrestSympathetic NeuronsNeural Crest
    Neural CrestTrunk Neural CrestTrunk Neural Crest CellsNeural Crest
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    Schwann-like cells (Derivation of neural...)
    HNK1+p75+ cells (Derivation of neural...)
    HNK1+p75+ cells (Derivation of neural...)
    Neural crest-like cells (Directed differentia...)
    Definitive endoderm-like cells (A scalable, suspensi...)

    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
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SOX10
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SOX10
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX10
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX10
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX10

    Orthologs
    for SOX10 gene

    (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 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 84(a)
    		 1 ↔ 1
    		 GL343460.1(125419-152097)
    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   --
    worm
    (Caenorhabditis elegans)    		 Secernentea sox-46
    		 Protein SOX-4
    		 20(a)
    		 possible ortholog
    		 X(3505427-3506378)


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

    Paralogs
    for SOX10 gene

    (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


    Genomic Variants
    for SOX10 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/190 NCBI SNPs in SOX10 are shown (see all 190)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs743155201,2
    		Cpathogenic21335831(-) CCTCAC/TAGATC 2 Q * stg10--------
    rs743155211,2
    		Cpathogenic21336212(-) AGCTGC/TAGTCG 2 Q * stg10--------
    rs743155141,2
    		Cpathogenic21340001(-) AGGCGG/TAGTGC 2 E * stg10--------
    rs743155151,2
    		Cpathogenic21345383(-) GCTCAC/GCAAGA 2 T S mis10--------
    rs734158761,2
    		C,F,pathogenic21345538(+) CAGTCA/G/TTAGCC 3 * Y stg1 syn13WA NA 4438
    rs792961521,2
    		C,F,--21334322(+) AAGCAC/TCAGTA 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs96075051,2
    		C--21334431(+) AGGGGC/TTAGAG 1 -- ut31 ese30--------
    rs81413711,2
    		C,F,--21334627(+) CCTGCC/TGACAG 1 -- ut31 ese34Minor allele frequency- T:0.15NA WA 124
    rs609628991,2
    		C,F,--21334848(+) GATGCG/ATCTCA 1 -- ut313Minor allele frequency- A:0.17WA 122
    rs747183401,2
    		C--21335597(+) CTCCCA/CGTGTG 2 G W mis10--------

    HapMap Linkage Disequilibrium report for SOX10 (38366693 - 38383429 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SOX10: --
    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
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SOX10
    DNA2.0 Custom Variant and Variant Library Synthesis for SOX10

    Disorders / Diseases
    for SOX10 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SOX10 for disorders           About GeneDecksing

    OMIM gene information: 602229   
    OMIM 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 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

    20/37 diseases for SOX10 (see all 37):    About MalaCards
    yemenite deaf-blind hypopigmentation syndrome    pcwh    charcot-marie-tooth disease    hirschsprung's disease
    shah-waardenburg syndrome    intestinal pseudo-obstruction    malignant peripheral nerve sheath tumor    waardenburg syndrome type 4
    megacolon    waardenburg's syndrome    waardenburg syndrome, type 4c    waardenburg syndrome type 2
    campomelic dysplasia    colonic aganglionosis    congenital hypomyelination neuropathy    developmental disabilities
    pilocytic astrocytoma    sex reversal    disorders of sex development    tooth disease

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

    10/22 Novoseek 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

    Publications
    for SOX10 gene

    (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 189):
    (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. 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)
    5. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. (PubMed id 17999358)1, 2, 9 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, 9 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, 9 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, 9 Pusch C.... Scherer G. (1998)
    9. A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV. (PubMed id 18348274)1, 2, 9 Morin M....del Castillo I. (2008)
    10. Identification and functional analysis of SOX10 missense mutations in different subtypes of waardenburg syndrome. (PubMed id 21898658)1, 2 Chaoui A.... Bondurand N. (2011)

    External Searches for SOX10 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SOX10 gene

    (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

    Other Databases showing SOX10 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SOX10 gene

    (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

    Intellectual Property
    for SOX10 gene

    (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



    Products
    for SOX10 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of SOX10
     Browse for Gene Knock-down Tools from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for SOX10 (SOX10)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for SOX10  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOX10   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SOX10  
     OriGene Protein Over-expression Lysate for SOX10   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for SOX10   OriGene 3'-UTR Clone for SOX10  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SOX10   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOX10  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for SOX10   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SOX10   OriGene Custom Protein Services for SOX10  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SOX10
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SOX10
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOX10
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX10
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX10
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX10
     GenScript Custom Purified and Recombinant Proteins Services for SOX10 GenScript cDNA clones with any tag delivered in your preferred vector for SOX10
     GenScript Custom Assay Services for SOX10 GenScript Superior Antibodies for SOX10
     GenScript Custom overexpressing Cell Line Services for SOX10 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in SOX10 promoter
     Search Chromatin IP Primers for SOX10
     RT2 qPCR Primer Assay in human, mouse, rat SOX10
     GNC Network for SOX10
     SABiosciences PCR Arrays including human, mouse, rat SOX10
     Search Tocris compounds for SOX10
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SOX10 antibodies
     SOX10 proteins
     SOX10 lysates
     Antibodies for SOX10
     See all of Abcam's Antibodies, Kits and Proteins for SOX10
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     SOX10 Proteins, Antibodies, CLIAs, and ELISAs
     Cell Line associated with SOX10: PureStem 4D20.8, NCr-fac Progenitor
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX10
     SwitchGear 3'UTR luciferase reporter plasmids for SOX10
     SwitchGear Promoter luciferase reporter plasmids for SOX10
     Search ThermoFisher Antibodies for SOX10
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX10
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      SOX10 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4