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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 mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008]

GeneCards Summary for SOX8 Gene

SOX8 (SRY-Box 8) is a Protein Coding gene. Diseases associated with SOX8 include myoblastoma and campomelic dysplasia. Among its related pathways are ERK Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is SOX11.

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

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

Genomics for SOX8 Gene

Regulatory Elements for SOX8 Gene

Enhancers for SOX8 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SOX8 on UCSC Golden Path with GeneCards custom track

Promoters for SOX8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SOX8 on UCSC Golden Path with GeneCards custom track

Genomic Location for SOX8 Gene

Chromosome:
16
Start:
981,808 bp from pter
End:
986,979 bp from pter
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

Proteomics data for SOX8 Gene at MOPED

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

Protein Domains for SOX8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SOX8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P57073

UniProtKB/Swiss-Prot:

SOX8_HUMAN :
  • Contains 1 HMG box DNA-binding domain.
Domain:
  • Contains 1 HMG box DNA-binding domain.
genes like me logo Genes that share domains with SOX8: view

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).

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 --
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:

Animal Model Products

miRNA for SOX8 Gene

miRTarBase miRNAs that target SOX8

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
Jensen Localization Image for SOX8 Gene COMPARTMENTS Subcellular localization image for SOX8 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for SOX8 Gene

Pathways & Interactions for SOX8 Gene

SuperPathways for SOX8 Gene

Superpath Contained pathways
1 ERK Signaling
genes like me logo Genes that share pathways with SOX8: view

Pathways by source 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:0001701 in utero embryonic development IEA,ISS --
GO:0001755 neural crest cell migration IEA,ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0007165 signal transduction IEA,ISS --
GO:0007422 peripheral nervous system development IEA,ISS --
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:

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
ECgene alternative splicing isoforms for
SOX8

Expression for SOX8 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for SOX8 Gene



SOURCE GeneReport for Unigene cluster for SOX8 Gene Hs.243678

genes like me logo Genes that share expression patterns with SOX8: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia SOX8 35
  • 87.51 (n)
  • 85.78 (a)
SOX8 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SOX8 35
  • 87.24 (n)
  • 83.97 (a)
SOX8 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sox8 35
  • 82.58 (n)
  • 85.29 (a)
Sox8 16
Sox8 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SOX8 35
  • 98.8 (n)
  • 99.44 (a)
SOX8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sox8 35
  • 83.18 (n)
  • 84.62 (a)
oppossum
(Monodelphis domestica)
Mammalia SOX8 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SOX8 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves SOX8 35
  • 78.86 (n)
  • 76.14 (a)
SOX8 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SOX8 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sox8 35
  • 71.28 (n)
  • 73.02 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100332016 35
  • 63.25 (n)
  • 62.37 (a)
sox8a 36
  • 58 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8108 35
fruit fly
(Drosophila melanogaster)
Insecta Sox100B 37
  • 53 (a)
Sox100B 36
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sox-4 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToOne
Species with no ortholog for SOX8:
  • 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)

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 Sequence Context AA Info Type
rs237674 -- 984,834(+) AGCAA(A/C/T)GTGGA reference, synonymous-codon
rs61352119 -- 986,194(+) TTGCT(C/T)GTTGC utr-variant-3-prime
rs1065368 -- 986,860(+) TCCCT(C/T)GGCAC utr-variant-3-prime
rs78370226 -- 985,527(+) CTGCC(C/T)GTGGC utr-variant-3-prime
rs78474822 -- 987,147(+) CGAGC(A/G)GCAGG downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv791e1 CNV Complex 17122850
nsv457315 CNV Gain 19166990
nsv471066 CNV Loss 18288195
dgv792e1 CNV Complex 17122850
nsv428316 CNV Gain+Loss 18775914
nsv833116 CNV Loss 17160897
nsv904855 CNV Loss 21882294
dgv2504n71 CNV Loss 21882294
dgv2505n71 CNV Loss 21882294
dgv2506n71 CNV Loss 21882294
dgv2507n71 CNV Loss 21882294
nsv904861 CNV Gain 21882294
nsv904865 CNV Loss 21882294
nsv457319 CNV Loss 19166990
dgv2508n71 CNV Loss 21882294
dgv2509n71 CNV Loss 21882294
esv1011363 CNV Deletion 20482838
nsv904877 CNV Loss 21882294
esv24049 CNV Loss 19812545
dgv2510n71 CNV Loss 21882294
nsv904882 CNV Loss 21882294
dgv2511n71 CNV Loss 21882294

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)

Relevant External Links for SOX8 Gene

HapMap Linkage Disequilibrium report
SOX8
Human Gene Mutation Database (HGMD)
SOX8

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

Disorders for SOX8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SOX8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
myoblastoma
  • benign granular cell tumor
campomelic dysplasia
  • campomelic dysplasia with autosomal sex reversal
- elite association - COSMIC cancer census association via MalaCards
Search SOX8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SOX8

Genetic Association Database (GAD)
SOX8
Human Genome Epidemiology (HuGE) Navigator
SOX8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SOX8
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. 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 67
  2. Cloning and characterisation of the Sry-related transcription factor gene Sox8. (PMID: 10684944) Schepers G.E. … Koopman P. (Nucleic Acids Res. 2000) 2 3 23
  3. 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. … RA1hl A. (J. Comp. Neurol. 2008) 3 23
  4. Sox8 gene expression identifies immature glial cells in developing cerebellum and cerebellar tumours. (PMID: 11483257) Cheng Y.C. … Scotting P.J. (Brain Res. Mol. Brain Res. 2001) 3 23
  5. Brief report: importance of SOX8 for in vitro chondrogenic differentiation of human mesenchymal stromal cells. (PMID: 24449344) Herlofsen S.R. … Brinchmann J.E. (Stem Cells 2014) 3

Products for SOX8 Gene

Sources for SOX8 Gene

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