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Aliases for SOX8 Gene

Aliases for SOX8 Gene

  • SRY-Box 8 2 3 5
  • SRY (Sex Determining Region Y)-Box 8 2
  • SRY Box 8 2

External Ids for SOX8 Gene

Previous GeneCards Identifiers for SOX8 Gene

  • GC16P001047
  • GC16P000971
  • GC16P001032
  • GC16P000957
  • GC16P001033
  • GC16P001038
  • GC16P001041

Summaries for SOX8 Gene

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 cognitive disability found in an alpha-thalassemia-related syndrome (ART-16). This protein is also highly expressed in the majority of human hepatocellular carcinomas and promotes cellular proliferation and enhanced tumor growth. [provided by RefSeq, Jul 2017]

GeneCards Summary for SOX8 Gene

SOX8 (SRY-Box 8) is a Protein Coding gene. Diseases associated with SOX8 include Alpha Thalassemia-Intellectual Disability Syndrome Type 1 and Myoblastoma. Among its related pathways are ERK Signaling and Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is SOX9.

UniProtKB/Swiss-Prot for SOX8 Gene

  • 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

Additional gene information for SOX8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOX8 Gene

Genomics for SOX8 Gene

GeneHancer (GH) Regulatory Elements for SOX8 Gene

Promoters and enhancers for SOX8 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I000981 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 558 -0.4 -407 1.6 ZNF493 ZNF133 SIN3A GLI4 ZNF2 GLIS2 ZNF213 ZNF416 KLF7 ZNF548 ENSG00000260807 LMF1 SOX8 GC16M000980 GC16M000982 GC16P001002 WDR90 CRAMP1 ENSG00000261505 UBE2I
GH16I000982 Enhancer 0.5 dbSUPER 550.8 +1.2 1181 0.9 SUZ12 ZNF10 SCRT2 KLF8 EZH2 ENSG00000260807 LMF1 GC16M000980 GC16M000982 SOX8 LOC102723964
GH16I000980 Enhancer 0.4 dbSUPER 550.8 -1.6 -1645 0.1 ZBTB6 EZH2 ENSG00000260807 GC16M000980 GC16M000982 GC16P001002 LMF1 SOX8 ENSG00000276931
GH16I001308 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.7 +328.9 328946 5.2 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 UBE2I LOC102723815 WDR90 CRAMP1 TELO2 ENSG00000261505 E4F1 TSC2 ENSG00000260051 IFT140
GH16I000974 Enhancer 0.9 ENCODE dbSUPER 16 -5.7 -5740 3.8 BCOR SUZ12 ZSCAN4 TSC22D4 ZMYM3 RBAK PHF20 POLR2A ZNF207 FOS ENSG00000260807 TELO2 ENSG00000260646 LMF1 SOX8 ENSG00000228779 LMF1-AS1 CRAMP1 NUBP2 WDR90
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SOX8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SOX8 gene promoter:

Genomic Locations for SOX8 Gene

Genomic Locations for SOX8 Gene
5,172 bases
Plus strand

Genomic View for SOX8 Gene

Genes around SOX8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOX8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOX8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOX8 Gene

Proteins for SOX8 Gene

  • Protein details for SOX8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transcription factor SOX-8
    Protein Accession:
    Secondary Accessions:
    • Q9NZW2

    Protein attributes for SOX8 Gene

    446 amino acids
    Molecular mass:
    47314 Da
    Quaternary structure:
    No Data Available
    • Sequence=CAB75612.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SOX8 Gene

Post-translational modifications for SOX8 Gene

No Post-translational modifications

Other Protein References for SOX8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SOX8 Gene

Domains & Families for SOX8 Gene

Gene Families for SOX8 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SOX8 Gene

Suggested Antigen Peptide Sequences for SOX8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SOX8: view

No data available for UniProtKB/Swiss-Prot for SOX8 Gene

Function for SOX8 Gene

Molecular function for SOX8 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for SOX8 Gene

Gene Ontology (GO) - Molecular Function for SOX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding ISS --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA --
GO:0003677 DNA binding NAS 10684944
GO:0003700 DNA binding transcription factor activity IEA --
GO:0008134 transcription factor binding IEA --
genes like me logo Genes that share ontologies with SOX8: view
genes like me logo Genes that share phenotypes with SOX8: view

Animal Models for SOX8 Gene

MGI Knock Outs for SOX8:

miRNA for SOX8 Gene

miRTarBase miRNAs that target SOX8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SOX8 Gene

Localization for SOX8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOX8 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SOX8 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SOX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 18512230
GO:0005737 cytoplasm IEA,ISS --
GO:0044798 nuclear transcription factor complex IEA --
genes like me logo Genes that share ontologies with SOX8: view

Pathways & Interactions for SOX8 Gene

genes like me logo Genes that share pathways with SOX8: view

Pathways by source for SOX8 Gene

1 BioSystems pathway for SOX8 Gene
1 Qiagen pathway for SOX8 Gene

Gene Ontology (GO) - Biological Process for SOX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation ISS,IEA --
GO:0001701 in utero embryonic development IEA,ISS --
GO:0001755 neural crest cell migration ISS,IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with SOX8: view

No data available for SIGNOR curated interactions for SOX8 Gene

Drugs & Compounds for SOX8 Gene

No Compound Related Data Available

Transcripts for SOX8 Gene

mRNA/cDNA for SOX8 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(110) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SOX8 Gene

SRY (sex determining region Y)-box 8:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SOX8 Gene

ExUns: 1 ^ 2 ^ 3a · 3b

Relevant External Links for SOX8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SOX8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SOX8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SOX8 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.1), Brain - Substantia nigra (x5.4), Brain - Putamen (basal ganglia) (x4.6), Brain - Hippocampus (x4.2), and Brain - Amygdala (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SOX8 Gene

NURSA nuclear receptor signaling pathways regulating expression of SOX8 Gene:


SOURCE GeneReport for Unigene cluster for SOX8 Gene:


Evidence on tissue expression from TISSUES for SOX8 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with SOX8: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SOX8 Gene

Orthologs for SOX8 Gene

This gene was present in the common ancestor of animals.

Orthologs for SOX8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SOX8 34 33
  • 98.8 (n)
(Bos Taurus)
Mammalia SOX8 33 34
  • 87.51 (n)
(Canis familiaris)
Mammalia SOX8 33 34
  • 87.24 (n)
(Rattus norvegicus)
Mammalia Sox8 33
  • 83.18 (n)
(Mus musculus)
Mammalia Sox8 33 16 34
  • 82.58 (n)
(Monodelphis domestica)
Mammalia SOX8 34
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia SOX8 34
  • 62 (a)
(Gallus gallus)
Aves SOX8 33 34
  • 78.86 (n)
(Anolis carolinensis)
Reptilia SOX8 34
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sox8 33
  • 71.28 (n)
(Danio rerio)
Actinopterygii LOC100332016 33
  • 63.25 (n)
sox8a 34
  • 58 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8108 33
fruit fly
(Drosophila melanogaster)
Insecta Sox100B 35 34
  • 53 (a)
(Caenorhabditis elegans)
Secernentea sox-4 34
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
Species where no ortholog for SOX8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SOX8 Gene

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

Paralogs for SOX8 Gene

(6) SIMAP similar genes for SOX8 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SOX8: view

Variants for SOX8 Gene

Sequence variations from dbSNP and Humsavar for SOX8 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000315691 -- 986,193(+) T/C 3_prime_UTR_variant
rs1000414213 -- 986,059(+) T/A 3_prime_UTR_variant
rs1001073975 -- 980,847(+) G/A upstream_transcript_variant
rs1001106016 -- 985,425(+) G/A 3_prime_UTR_variant
rs1001314183 -- 985,733(+) G/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for SOX8 Gene

Variant ID Type Subtype PubMed ID
dgv4834n54 CNV loss 21841781
dgv4835n54 CNV gain 21841781
dgv4836n54 CNV gain+loss 21841781
dgv4837n54 CNV loss 21841781
dgv4838n54 CNV gain 21841781
dgv4839n54 CNV gain 21841781
dgv4840n54 CNV loss 21841781
esv1011363 CNV deletion 20482838
esv24049 CNV loss 19812545
esv2422427 CNV duplication 17116639
nsv1048964 CNV loss 25217958
nsv428316 CNV gain+loss 18775914
nsv457315 CNV gain 19166990
nsv457319 CNV loss 19166990
nsv471066 CNV loss 18288195
nsv571046 CNV gain 21841781
nsv571059 CNV loss 21841781
nsv571060 CNV gain 21841781
nsv571061 CNV gain 21841781
nsv571085 CNV gain+loss 21841781
nsv571089 CNV gain 21841781
nsv571092 CNV gain 21841781
nsv833116 CNV loss 17160897
nsv952898 CNV deletion 24416366

Variation tolerance for SOX8 Gene

Residual Variation Intolerance Score: 74.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SOX8 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOX8 Gene

Disorders for SOX8 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SOX8 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alpha thalassemia-intellectual disability syndrome type 1
  • alpha-thalassemia/mental retardation syndrome, deletion-type
  • benign granular cell tumor
  • thalassemia, alpha-
campomelic dysplasia
  • cmpd
- elite association - COSMIC cancer census association via MalaCards
Search SOX8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SOX8

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SOX8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SOX8 Gene

Publications for SOX8 Gene

  1. Cloning and characterisation of the Sry-related transcription factor gene Sox8. (PMID: 10684944) Schepers GE … Koopman P (Nucleic acids research 2000) 2 3 22 58
  2. The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome. (PMID: 10662550) Pfeifer D … Scherer G (Genomics 2000) 2 3 4 58
  3. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PMID: 21833088) International Multiple Sclerosis Genetics Consortium … Compston A (Nature 2011) 3 44 58
  4. Quantitative assessment of glial cells in the human and guinea pig enteric nervous system with an anti-Sox8/9/10 antibody. (PMID: 18512230) Hoff S … Rühl A (The Journal of comparative neurology 2008) 3 22 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for SOX8 Gene

Sources for SOX8 Gene

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