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. Haploinsufficienc... See more...

Aliases for SOX8 Gene

Aliases for SOX8 Gene

  • SRY-Box Transcription Factor 8 2 3 5
  • SRY (Sex Determining Region Y)-Box 8 2 3
  • Transcription Factor SOX-8 3 4
  • SRY-Box 8 2 3

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 Transcription Factor 8) is a Protein Coding gene. Diseases associated with SOX8 include Alpha Thalassemia-Intellectual Disability Syndrome Type 1 and Alpha-Thalassemia. Among its related pathways are Preimplantation Embryo and ERK Signaling. 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 Summary 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 , Rfam classification and piRNA Summary for SOX8 Gene

Genomics for SOX8 Gene

GeneHancer (GH) Regulatory Elements for SOX8 Gene

Promoters and enhancers for SOX8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SOX8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOX8

Top Transcription factor binding sites by QIAGEN in the SOX8 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • E47
  • Hand1
  • POU2F1
  • POU2F1a
  • SRY

Genomic Locations for SOX8 Gene

Genomic Locations for SOX8 Gene
chr16:981,770-986,979
(GRCh38/hg38)
Size:
5,210 bases
Orientation:
Plus strand
chr16:1,031,808-1,036,979
(GRCh37/hg19)
Size:
5,172 bases
Orientation:
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:
    P57073-SOX8_HUMAN
    Recommended name:
    Transcription factor SOX-8
    Protein Accession:
    P57073
    Secondary Accessions:
    • Q9NZW2

    Protein attributes for SOX8 Gene

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

neXtProt entry for SOX8 Gene

Post-translational modifications for SOX8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

HGNC:
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:
  • Transcription factor SOX-8 (SOX8_HUMAN)
genes like me logo Genes that share domains with SOX8: view

No data available for Graphical View of Domain Structure and 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 IEA,ISS --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IBA 21873635
GO:0003677 DNA binding NAS 10684944
GO:0003700 DNA-binding transcription factor activity 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

COMPARTMENTS
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
plasma membrane 2
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1

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:0000790 nuclear chromatin ISA --
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

PathCards logo

SuperPathways for SOX8 Gene

SuperPathway Contained pathways
1 ERK Signaling
.51
2 Preimplantation Embryo
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
  • Molecular Mechanisms of Cancer

Gene Ontology (GO) - Biological Process for SOX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IEA,ISS --
GO:0001701 in utero embryonic development ISS,IEA --
GO:0001755 neural crest cell migration ISS,IEA --
GO:0002009 morphogenesis of an epithelium IBA 21873635
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 :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

ExUns: 1 ^ 2 ^ 3a · 3b
SP1:
SP2:

Relevant External Links for SOX8 Gene

GeneLoc Exon Structure for
SOX8

Expression for SOX8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SOX8 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SOX8

SOURCE GeneReport for Unigene cluster for SOX8 Gene:

Hs.243678

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
chimpanzee
(Pan troglodytes)
Mammalia SOX8 31 30
  • 98.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SOX8 31 30
  • 87.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SOX8 31 30
  • 87.24 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sox8 30
  • 83.18 (n)
mouse
(Mus musculus)
Mammalia Sox8 17 31 30
  • 82.58 (n)
oppossum
(Monodelphis domestica)
Mammalia SOX8 31
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SOX8 31
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves SOX8 31 30
  • 78.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SOX8 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sox8 30
  • 71.28 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100332016 30
  • 63.25 (n)
sox8a 31
  • 58 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8108 30
fruit fly
(Drosophila melanogaster)
Insecta Sox100B 31 32
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sox-4 31
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
OneToOne
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

ENSEMBL:
Gene Tree for SOX8 (if available)
TreeFam:
Gene Tree for SOX8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SOX8: view image

Paralogs for SOX8 Gene

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

  • SOX8_HUMAN
genes like me logo Genes that share paralogs with SOX8: view

Variants for SOX8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOX8 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
713378 Benign: not provided 981,964(+) C/T SYNONYMOUS_VARIANT
714679 Likely Benign: not provided 985,162(+) G/T MISSENSE_VARIANT
749981 Likely Benign: not provided 982,195(+) C/T SYNONYMOUS_VARIANT
752587 Likely Benign: not provided 983,740(+) G/A SYNONYMOUS_VARIANT
776958 Benign: not provided 985,248(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SOX8 Gene

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)
SOX8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SOX8

SNP Genotyping and Copy Number Assay Products

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

Disorders for SOX8 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SOX8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alpha thalassemia-intellectual disability syndrome type 1
  • alpha-thalassemia/mental retardation syndrome, deletion-type
alpha-thalassemia
  • thalassemia, alpha-
peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease
  • pcwh
campomelic dysplasia
  • cmpd
megacolon
  • dilatation of colon
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 54
  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 54
  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 41 54
  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 23 54
  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 54

Products for SOX8 Gene

Sources for SOX8 Gene