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

SOX8 Gene

protein-coding   GIFtS: 54
GCID: GC16P001033

SRY (sex determining region Y)-box 8
 Explore 7 diseases affiliated with
SOX8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SOX8    

Aliases
for SOX8 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 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


Summaries
for SOX8 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 SOX8:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences 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 plasmid: SOX8 promoter sequence
   Search SABiosciences Chromatin IP Primers for SOX8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC16P001033:  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

Proteins
for SOX8 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: SOX8_HUMAN, P57073 (See protein sequence)
Recommended Name: Transcription factor SOX-8  
Size: 446 amino acids; 47314 Da
Subcellular location: Nucleus (Potential)
Sequence caution: Sequence=CAB75612.1; Type=Erroneous initiation;
Secondary accessions: Q9NZW2

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P57073

    • SOX8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055402.2  
    ENSEMBL proteins: 
     ENSP00000293894  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: SOX8
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    Novus Biologicals SOX8 Proteins
    Novus Biologicals SOX8 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SOX8

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

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


    SOX8 for ontologies           About GeneDecksing



    SOX8 Antibody Products: 
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    ThermoFisher Antibodies for SOX8

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    Uscn ELISAs and CLIAs for SOX8

    Protein Domains /
    Families
    for SOX8 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SOX8 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR009071 HMG_superfamily
     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


    Function
    for SOX8 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: 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)

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOX8
    8/20 QIAGEN miScript miRNA 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 plasmid: SOX8 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 SOX8 (see all 7)
    OriGene shRNA RFP: SOX8
    OriGene siRNA: SOX8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX8

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

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOX8 (see all 3)
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    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
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX8 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for SOX8
    Search LifeMap BioReagents cell lines for SOX8

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX8

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (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--


    SOX8 for ontologies           About GeneDecksing


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

    SOX8 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SOX8 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
    1Rho Family GTPases
    		Molecular Mechanisms of Cancer0.51

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


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SOX8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/21 Interacting proteins for SOX8 (P570733 ENSP000002938944) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NR5A1Q132853, ENSP000003626904I2D: score=2 STRING: ENSP00000362690
    DLX5P561783, ENSP000002225984I2D: score=1 STRING: ENSP00000222598
    HHEXQ030143, ENSP000002827284I2D: score=1 STRING: ENSP00000282728
    HOXC11O432483, ENSP000002430824I2D: score=1 STRING: ENSP00000243082
    JUNP054123, ENSP000003602664I2D: score=1 STRING: ENSP00000360266
    About this table

    Gene Ontology (GO): 5/34 biological process terms (GO ID links to tree view) (see all 34):    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-dependent IEA--
    GO:0007165signal transduction ISS--


    SOX8 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SOX8 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SOX8
    Search CenterWatch for drugs/clinical trials and news about SOX8 

    Transcripts
    for SOX8 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 SOX8 gene: 
    NM_014587.3  

    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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOX8
    8/20 QIAGEN miScript miRNA 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 plasmid: SOX8 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 SOX8 (see all 7)
    OriGene shRNA RFP: SOX8
    OriGene siRNA: SOX8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX8
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, 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
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SOX8
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX8
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX8

    Additional cDNA sequence: 

    AF164104.1 AF226675.1 BC031797.1 

    2 DOTS entries:

    DT.452158  DT.97854628 

    24/110 AceView cDNA sequences (see all 110):

    AW008587 AF164104 AI333191 BF969163 BF445316 AI880097 AI421997 BG910954 
    NM_014587 AI470991 CR603537 BG820231 AA252125 F08042 AF226675 BG911118 
    BF529946 AA330929 AI609018 AW292749 AI651764 BF528727 AI263761 BF530706 

    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

    Expression
    for SOX8 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

    SOX8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGCGTCTCC

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

    SOX8 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/22 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 22) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMuller Glia Precursor CellsMuller Glia, Retina
    TestisSeminiferous TubulesSertoli cellsTestis
    TestisTestis CordPre-Sertoli CellsTestis
    KidneyUreteric BudUreteric Bud Tip CellsKidney
    LimbStylopod Synovial JointInterzone CellsCartilage
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BoneAutopod Long BoneBone
    BrainHypothalamusBrain
    BrainMedulla OblongataBrain
    BrainStriatumBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    N2/LSB/S/F8/CHIR-induced cells (Generation of midbra...)
    HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+BMP4-induced 4D20.8 cells (Chondrogenic inducti...)Bone, Cartilage
    TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+...)
    HyStem+TGF?3+GDF5-induced 4D20.8 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage

    See SOX8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SOX8

    SOURCE GeneReport for Unigene cluster: Hs.243678
        SABiosciences Expression via Pathway-Focused PCR Array including SOX8: 
              Neurogenesis in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX8

    Orthologs
    for SOX8 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 SOX8 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SOX81 SRY (sex determining region Y)-box 8 78.71(n)
    76.14(a)    		   395483  NM_204731.1  NP_990062.1 
    African clawed frog
    (Xenopus laevis)    		 Amphibia AY324658.12   -- 77.24(n)    AY324658.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1003320161 transcription factor SOX-8-like 62.89(n)
    62.37(a)    		   100332016  XM_002667621.2  XP_002667667.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Sox100B3 DNA bending 53(a)   100B2   --
    worm
    (Caenorhabditis elegans)    		 Secernentea sox-46
    		 Protein SOX-4
    		 21(a)
    		 possible ortholog
    		 X(3505427-3506378)


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

    Paralogs
    for SOX8 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    SOX8 for paralogs           About GeneDecksing



    Genomic Variants
    for SOX8 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

    10/166 NCBI SNPs in SOX8 are shown (see all 166)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs125978121,2
    		C,F,H,--959350(+) AGGCCC/TGGAAT 1 -- us2k11Minor allele frequency- T:0.02NA 120
    rs777128251,2
    		F,--959535(+) CTGGCC/TCCGGC 1 -- us2k11Minor allele frequency- T:0.06EA 120
    rs38096731,2
    		C,F,H,--1029912(+) GCCACG/AGAAGG 3 -- us2k1 int118Minor allele frequency- A:0.05NS EA NA CSA WA 2331
    rs38096741,2
    		C,F,--1030002(+) GTGCCG/AGAGCC 3 -- int1 us2k1 tfbs310Minor allele frequency- A:0.25NA WA CSA EA 372
    rs38096751,2
    		C,F,--1030011(+) CCAAGC/TGAGAT 3 -- us2k1 int18Minor allele frequency- T:0.21NA CSA WA EA 368
    rs38262371,2
    		C,F,--1030147(+) AGACCG/ACCCTC 3 -- int1 us2k18Minor allele frequency- A:0.21NA CSA WA EA 368
    rs118639631,2
    		C,H,--1030154(+) CCTCCC/GGGCAG 3 -- us2k1 int110Minor allele frequency- G:0.50NA WA CSA EA 371
    rs124470171,2
    		C,F,H,--1030273(+) GCCCCG/AGGGTC 3 -- us2k1 int12Minor allele frequency- A:0.07WA NA 238
    rs124435341,2
    		C,F,H,--1030414(+) CGACCC/ACCGAC 3 -- int1 us2k115Minor allele frequency- A:0.06NS EA NA 2094
    rs1134551351,2
    		C,--1030696(+) CTCGCG/-GGGGC 3 -- int1 us2k11Minor allele frequency- -:0.00CSA 2

    HapMap Linkage Disequilibrium report for SOX8 (1031808 - 1036979 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for SOX8
         8 CNVs: 29991 29989 3987 29990 5329 29987 72408 29992
    Human Gene Mutation Database (HGMD): SOX8

    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing SOX8:
    Glioma
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SOX8
    DNA2.0 Custom Variant and Variant Library Synthesis for SOX8

    Disorders / Diseases
    for SOX8 gene

    (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.)
    About This Section
    SOX8 for disorders           About GeneDecksing

    OMIM gene information: 605923    OMIM disorders: --

    7 diseases for SOX8:    About MalaCards
    testicular germ cell tumor    campomelic dysplasia    germ cell tumor    alpha thalassemia
    myoblastoma    thalassemia    retinitis

    2 diseases from the University of Copenhagen DISEASES database for SOX8:
    Campomelic dysplasia     Myoblastoma
    Human Genome Epidemiology (HuGE) Navigator: SOX8 (1 document)

    Export disorders for SOX8 gene to outside databases

    Publications
    for SOX8 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 SOX8 gene, integrated from 9 sources (see all 29):
    (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. (2000)
    2. Cloning and characterisation of the Sry-related transcription factor gene Sox8. (PubMed id 10684944)1, 3, 9 Schepers G.E....Koopman P. (2000)
    3. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (2004)
    4. 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. (2004)
    5. 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. (2001)
    6. Sox8 gene expression identifies immature glial cells in developing cerebellum and cerebellar tumours. (PubMed id 11483257)1, 9 Cheng Y.C....Scotting P.J. (2001)
    7. 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....Ruhl A. (2008)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Genetic risk and a primary role for cell-mediated immu ne mechanisms in multiple sclerosis. (PubMed id 21833088)1  ....Compston A. (2011)
    10. Sox2 cooperates with Chd7 to regulate genes that are m utated in human syndromes. (PubMed id 21532573)1 Engelen E....Poot R.A. (2011)

    External Searches for SOX8 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing SOX8 gene

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

    Other Databases showing SOX8 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SOX8 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 SOX8 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SOX8 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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