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SOX8 Gene

protein-coding   GIFtS: 56
GCID: GC16P001041

SRY (Sex Determining Region Y)-Box 8

  See SOX8-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SRY (Sex Determining Region Y)-Box 81 2
Transcription Factor SOX-82

External Ids:    HGNC: 112031   Entrez Gene: 308122   Ensembl: ENSG000000055137   OMIM: 6059235   UniProtKB: P570733   

Export aliases for SOX8 gene to outside databases

Previous GC identifers: GC16P001047 GC16P000971 GC16P001032 GC16P000957 GC16P001033 GC16P001038


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SOX8 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 may be involved in
brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation
found in haemoglobin H-related mental retardation (ART-16 syndrome). (provided by RefSeq, Jul 2008)

GeneCards Summary for SOX8 Gene:
SOX8 (SRY (sex determining region Y)-box 8) is a protein-coding gene. Diseases associated with SOX8 include myoblastoma, and campomelic dysplasia. GO annotations related to this gene include RNA polymerase II core promoter sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SOX13.

UniProtKB/Swiss-Prot: SOX8_HUMAN, P57073
Function: May play a role in central nervous system, limb and facial development. May be involved in male sex
determination. Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' (By similarity)

Gene Wiki entry for SOX8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010393.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the SOX8 gene promoter:
         SRY   POU2F1   POU2F1a   Hand1   AP-2beta   AP-2gamma   AP-2alpha   E47   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSOX8 promoter sequence
   Search Chromatin IP Primers for SOX8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SOX8


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

SOX8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOX8 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P001041:  view genomic region     (about GC identifiers)

Start:
1,031,808 bp from pter      End:
1,036,979 bp from pter
Size:
5,172 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SOX8_HUMAN, P57073 (See protein sequence)
Recommended Name: Transcription factor SOX-8  
Size: 446 amino acids; 47314 Da
Sequence caution: Sequence=CAB75612.1; Type=Erroneous initiation;
Secondary accessions: Q9NZW2

Explore the universe of human proteins at neXtProt for SOX8: NX_P57073

Explore proteomics data for SOX8 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys138
  • Modification sites at PhosphoSitePlus

  • See SOX8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055402.2  
    ENSEMBL proteins: 
     ENSP00000293894  

    SOX8 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for SOX8
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    Novus Biologicals SOX8 Proteins
    Novus Biologicals SOX8 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SOX8

     
    Search eBioscience for Proteins for SOX8 

    SOX8 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SOX8
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SOX8
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    Novus Biologicals SOX8 Antibodies
    Abcam antibodies for SOX8
    Cloud-Clone Corp. Antibodies for SOX8
    ThermoFisher Antibodies for SOX8
    LSBio Antibodies in human, mouse, rat for SOX8

    SOX8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SOX8
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SOX8
    Cloud-Clone Corp. CLIAs for SOX8
    Search eBioscience for ELISAs for SOX8 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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 P57073

    ProtoNet protein and cluster: P57073

    UniProtKB/Swiss-Prot: SOX8_HUMAN, P57073
    Similarity: Contains 1 HMG box DNA-binding domain


    Find genes that share domains with SOX8           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SOX8_HUMAN, P57073
    Function: May play a role in central nervous system, limb and facial development. May be involved in male sex
    determination. Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000979RNA polymerase II core promoter sequence-specific DNA binding ISS--
    GO:0003677DNA binding NAS10684944
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0008134transcription factor binding IEA--
         
    Find genes that share ontologies with SOX8           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sox8):
     adipose tissue  endocrine/exocrine gland  growth/size/body  limbs/digits/tail  reproductive system 
     skeleton 

    Find genes that share phenotypes with SOX8           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SOX8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SOX8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SOX8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SOX8

    miRNA
    Products:
        
    miRTarBase miRNAs that target SOX8:
    hsa-mir-615-3p (MIRT040234)

    Block miRNA regulation of human, mouse, rat SOX8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SOX8 (see all 20):
    hsa-miR-4291 hsa-miR-520d-5p hsa-miR-513a-5p hsa-miR-374a* hsa-miR-124 hsa-miR-506 hsa-miR-761 hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidSOX8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SOX8
    Predesigned siRNA for gene silencing in human, mouse, rat SOX8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SOX8

    Clone
    Products:
         
    OriGene clones in human, mouse for SOX8 (see all 5)
    OriGene ORF clones in mouse, rat for SOX8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SOX8 (NM_014587)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX8

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SOX8
    Browse ESI BIO Cell Lines and PureStem Progenitors for SOX8 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SOX8_HUMAN, P57073: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA18512230
    GO:0005737cytoplasm ISS--

    Find genes that share ontologies with SOX8           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SOX8 About    
    See pathways by source

    SuperPathContained pathways About
    1ERK Signaling
    Molecular Mechanisms of Cancer0.51

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SOX8
        Molecular Mechanisms of Cancer


        Pathway & Disease-focused RT2 Profiler PCR Array including SOX8: 
              Neurogenesis in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SOX8

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

    Selected Interacting proteins for SOX8 (P570733 ENSP000002938944) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POU5F1Q018603, ENSP000002599154I2D: score=1 STRING: ENSP00000259915
    ENSG00000206454Q018603I2D: score=1 
    ENSG00000229094Q018603I2D: score=1 
    ENSG00000230336Q018603I2D: score=1 
    ENSG00000233911Q018603I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 35):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001649osteoblast differentiation ISS--
    GO:0001701in utero embryonic development ISS--
    GO:0001755neural crest cell migration ISS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0007165signal transduction ISS--

    Find genes that share ontologies with SOX8           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SOX8



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SOX8 gene: 
    NM_014587.4  

    Unigene Cluster for SOX8:

    SRY (sex determining region Y)-box 8
    Hs.243678  [show with all ESTs]
    Unigene Representative Sequence: BC031797
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000293894(uc002ckn.3) ENST00000566034
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SOX8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SOX8 (see all 20):
    hsa-miR-4291 hsa-miR-520d-5p hsa-miR-513a-5p hsa-miR-374a* hsa-miR-124 hsa-miR-506 hsa-miR-761 hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidSOX8 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SOX8
    Predesigned siRNA for gene silencing in human, mouse, rat SOX8
    Clone
    Products:
         
    OriGene clones in human, mouse for SOX8 (see all 5)
    OriGene ORF clones in mouse, rat for SOX8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SOX8 (NM_014587)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOX8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX8
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SOX8
    OriGene qSTAR qPCR primer pairs in human, mouse for SOX8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SOX8
      QuantiTect SYBR Green Assays in human, mouse, rat SOX8
      QuantiFast Probe-based Assays in human, mouse, rat SOX8

    Additional mRNA sequence: 

    AF164104.1 AF226675.1 BC031797.1 

    2 DOTS entries:

    DT.452158  DT.97854628 

    Selected AceView cDNA sequences (see all 110):

    BF445316 BF529946 AW008587 AI421997 BG910954 AF164104 BF969163 AI333191 
    F08042 AF226675 BG911118 NM_014587 AA252125 CR603537 AA330929 AI880097 
    BG820231 AI470991 BG910187 CF455496 AI263761 BF526543 H16586 Z41122 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SOX8    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b
    SP1:                        
    SP2:                        


    ECgene alternative splicing isoforms for SOX8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SOX8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCGTCTCC
    SOX8 Expression
    About this image


    SOX8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Oligodendrocyte Precursor Cells Spinal Cord White Matter
             Cerebral Cortex
             Oligodendrocyte-like cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 8 entries
             Interzone Cells Stylopod Synovial Joint
             Nasal Capsule
             Chondrocyte-like cells
     
     Bone (Muscoskeletal System)    fully expand to see all 8 entries
             Zeugopod Growth Plate
             Chondrocyte-like cells
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Oligodendrocyte Precursor Cells Motor Neural Progenitor Domain
             Metencephalon
             Floor plate-like cells
     
     Spinal Cord (Nervous System)    fully expand to see all 6 entries
             Oligodendrocyte Precursor Cells Spinal Cord White Matter
             Oligodendrocyte-like cells
    SOX8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SOX8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.243678
        Pathway & Disease-focused RT2 Profiler PCR Array including SOX8: 
              Neurogenesis in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SOX8
    OriGene qSTAR qPCR primer pairs in human, mouse for SOX8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SOX8
    QuantiTect SYBR Green Assays in human, mouse, rat SOX8
    QuantiFast Probe-based Assays in human, mouse, rat SOX8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SOX8 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sox81 , 5 SRY-box containing gene 85
    SRY (sex determining region Y)-box 81
    82.58(n)1
    85.29(a)1
      17 (12.69 cM)5
    206811  NM_011447.31  NP_035577.11 
     255658925 
    chicken
    (Gallus gallus)
    Aves SOX81 SRY (sex determining region Y)-box 8 78.86(n)
    76.14(a)
      395483  NM_204731.1  NP_990062.1 
    lizard
    (Anolis carolinensis)
    Reptilia SOX86
    SRY (sex determining region Y)-box 8
    67(a)
    1 ↔ 1
    GL343263.1(1647842-1668584)
    African clawed frog
    (Xenopus laevis)
    Amphibia AY324658.12   -- 77.24(n)    AY324658.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003320161 transcription factor SOX-8-like 63.25(n)
    62.37(a)
      100332016  XM_002667621.3  XP_002667667.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sox100B3 DNA bending 53(a)   100B2   --
    worm
    (Caenorhabditis elegans)
    Secernentea sox-46
    Protein SOX-4 (sox-4) mRNA, complete cds
    31(a)
    1 → many
    X(3505440-3506391) WBGene00015716


    ENSEMBL Gene Tree for SOX8 (if available)
    TreeFam Gene Tree for SOX8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SOX8 gene
    SOX132  SOX22  SOX42  SOX12  SOX142  SOX32  SOX92  SOX122  
    SOX152  SOX182  SOX52  ENSG000002587242  SOX212  SOX172  SOX62  SOX112  
    SRY2  SOX102  SOX72  
    6 SIMAP similar genes for SOX8 using alignment to 1 protein entry:     SOX8_HUMAN:
    FLJ00094    SOX10    SOX9    SRY    SOX15    SOX14

    Find genes that share paralogs with SOX8           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SOX8 (see all 145)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1504447931,2
    Cuntested11033815(+) TACAAA/GTACCA 2 K syn10--------
    rs1855284561,2
    C--1033693(+) TGGGCA/GCCCTG 1 -- int10--------
    rs1469074271,2
    C,F--1033740(+) AGCGAG/AAGCGA 2 /E syn11Minor allele frequency- A:0.00NA 4352
    rs2000120941,2
    C--1033974(+) CAGGCC/TCCCCG 1 -- int10--------
    rs2018936741,2
    C--1033993(+) AGGGTC/TCCTGT 1 -- int10--------
    rs118636451,2
    C,F,A,H--1034156(+) AGCCAC/TCTTGA 1 -- int12Minor allele frequency- T:0.14NA WA 122
    rs1418328391,2
    --1034254(+) CACACC/TGAGCT 1 -- int10--------
    rs1117476471,2
    C,F--1034330(+) GGCCTG/CGGTCA 1 -- int11Minor allele frequency- C:0.50WA 2
    rs1178964691,2
    C,F--1034413(+) GCGCCC/TTGTAA 1 -- int11Minor allele frequency- T:0.03EA 120
    rs112489601,2
    C,F,H--1034421(+) TAAACG/CCCAGC 1 -- int113Minor allele frequency- C:0.43NA WA CSA EA 378

    HapMap Linkage Disequilibrium report for SOX8 (1031808 - 1036979 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SOX8 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1011363CNV Deletion20482838
    esv2422427CNV Duplication17116639
    dgv2510n71CNV Loss21882294
    nsv904865CNV Loss21882294
    nsv471066CNV Loss18288195
    nsv457319CNV Loss19166990
    esv24049CNV Loss19812545
    nsv904882CNV Loss21882294
    dgv2505n71CNV Loss21882294
    dgv2504n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): SOX8
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing SOX8:
    Glioma
    SeqTarget long-range PCR primers for resequencing SOX8
    DNA2.0 Custom Variant and Variant Library Synthesis for SOX8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605923    OMIM disorders: --

    2 diseases for SOX8:    
    About MalaCards
    myoblastoma    campomelic dysplasia

    2 diseases from the University of Copenhagen DISEASES database for SOX8:
    Campomelic dysplasia     Myoblastoma

    Find genes that share disorders with SOX8           About GenesLikeMe

    Genetic Association Database (GAD): SOX8
    Human Genome Epidemiology (HuGE) Navigator: SOX8 (1 document)

    Export disorders for SOX8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SOX8 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with SOX8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome. (PubMed id 10662550)1, 2, 3 Pfeifer D.... Scherer G. (Genomics 2000)
    2. Cloning and characterisation of the Sry-related transcription factor gene Sox8. (PubMed id 10684944)1, 3, 9 Schepers G.E....Koopman P. (Nucleic Acids Res. 2000)
    3. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PubMed id 21833088)1, 4  ....Compston A. (Nature 2011)
    4. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (Nature 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (Hum. Mol. Genet. 2001)
    7. Sox8 gene expression identifies immature glial cells in developing cerebellum and cerebellar tumours. (PubMed id 11483257)1, 9 Cheng Y.C....Scotting P.J. (Brain Res. Mol. Brain Res. 2001)
    8. Quantitative assessment of glial cells in the human and guinea pig enteric nervous system with an anti-Sox8/9/10 antibody. (PubMed id 18512230)1, 9 Hoff S....RA1hl A. (J. Comp. Neurol. 2008)
    9. MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis. (PubMed id 23739915)1  ....Zipp F. (Brain 2013)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 30812 HGNC: 11203 AceView: SOX8 Ensembl:ENSG00000005513 euGenes: HUgn30812
    ECgene: SOX8 H-InvDB: SOX8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SOX8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SOX8 gene:
    Search GeneIP for patents involving SOX8

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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