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Aliases for SOX6 Gene

Aliases for SOX6 Gene

  • SRY-Box 6 2 3 5
  • SRY (Sex Determining Region Y)-Box 6 2 3
  • SRY Box 6 2 3
  • SRY-Box Containing Gene 6 3
  • HSSOX6 3
  • SOXD 3

External Ids for SOX6 Gene

Previous GeneCards Identifiers for SOX6 Gene

  • GC11M017086
  • GC11M016740
  • GC11M016032
  • GC11M015957
  • GC11M015673

Summaries for SOX6 Gene

Entrez Gene Summary for SOX6 Gene

  • This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]

GeneCards Summary for SOX6 Gene

SOX6 (SRY-Box 6) is a Protein Coding gene. Diseases associated with SOX6 include campomelic dysplasia and malignant ependymoma. Among its related pathways are Signaling by GPCR and 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 SOX13.

UniProtKB/Swiss-Prot for SOX6 Gene

  • Transcriptional activator. Binds specifically to the DNA sequence 5-AACAAT-3. Plays a key role in several developmental processes, including neurogenesis and skeleton formation.

Gene Wiki entry for SOX6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOX6 Gene

Genomics for SOX6 Gene

Regulatory Elements for SOX6 Gene

Promoters for SOX6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SOX6 on UCSC Golden Path with GeneCards custom track

Genomic Location for SOX6 Gene

15,966,449 bp from pter
16,739,591 bp from pter
773,143 bases
Minus strand

Genomic View for SOX6 Gene

Genes around SOX6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOX6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOX6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOX6 Gene

Proteins for SOX6 Gene

  • Protein details for SOX6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transcription factor SOX-6
    Protein Accession:
    Secondary Accessions:
    • Q86VX7
    • Q9BXQ3
    • Q9BXQ4
    • Q9BXQ5
    • Q9H0I8

    Protein attributes for SOX6 Gene

    828 amino acids
    Molecular mass:
    91921 Da
    Quaternary structure:
    • Interacts with DAZAP2.
    • Sequence=BC037866; Type=Frameshift; Positions=505; Evidence={ECO:0000305};

    Alternative splice isoforms for SOX6 Gene


neXtProt entry for SOX6 Gene

Proteomics data for SOX6 Gene at MOPED

Post-translational modifications for SOX6 Gene

Antibody Products

No data available for DME Specific Peptides for SOX6 Gene

Domains & Families for SOX6 Gene

Gene Families for SOX6 Gene

Protein Domains for SOX6 Gene


Suggested Antigen Peptide Sequences for SOX6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 HMG box DNA-binding domain.
  • Contains 1 HMG box DNA-binding domain.
genes like me logo Genes that share domains with SOX6: view

Function for SOX6 Gene

Molecular function for SOX6 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator. Binds specifically to the DNA sequence 5-AACAAT-3. Plays a key role in several developmental processes, including neurogenesis and skeleton formation.

Gene Ontology (GO) - Molecular Function for SOX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 21262861
genes like me logo Genes that share ontologies with SOX6: view
genes like me logo Genes that share phenotypes with SOX6: view

Animal Models for SOX6 Gene

MGI Knock Outs for SOX6:

Animal Model Products

Targeted motifs for SOX6 Gene
HOMER Transcription Factor Regulatory Elements motif SOX6
  • Consensus sequence: CCATTGTTNY Submotif: canonical Cell Type: Myotubes GEO ID: GSE32627

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for SOX6 Gene

Localization for SOX6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOX6 Gene

Subcellular locations from

Jensen Localization Image for SOX6 Gene COMPARTMENTS Subcellular localization image for SOX6 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for SOX6 Gene

Pathways & Interactions for SOX6 Gene

genes like me logo Genes that share pathways with SOX6: view

Pathways by source for SOX6 Gene

Gene Ontology (GO) - Biological Process for SOX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0000902 cell morphogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0006355 regulation of transcription, DNA-templated IEA,NAS 1614875
GO:0007517 muscle organ development NAS 11255018
genes like me logo Genes that share ontologies with SOX6: view

No data available for SIGNOR curated interactions for SOX6 Gene

Drugs & Compounds for SOX6 Gene

(1) Additional Compounds for SOX6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SOX6: view

Transcripts for SOX6 Gene

Unigene Clusters for SOX6 Gene

SRY (sex determining region Y)-box 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SOX6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - -
SP5: - -

Relevant External Links for SOX6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SOX6 Gene

mRNA expression in normal human tissues for SOX6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SOX6 Gene

This gene is overexpressed in Muscle - Skeletal (x4.7).

Protein differential expression in normal tissues from HIPED for SOX6 Gene

This gene is overexpressed in Adipocyte (61.5) and Peripheral blood mononuclear cells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SOX6 Gene

SOURCE GeneReport for Unigene cluster for SOX6 Gene Hs.368226

mRNA Expression by UniProt/SwissProt for SOX6 Gene

Tissue specificity: Expressed in a wide variety of tissues, most abundantly in skeletal muscle.
genes like me logo Genes that share expression patterns with SOX6: view

Protein tissue co-expression partners for SOX6 Gene

Primer Products

In Situ Assay Products

Orthologs for SOX6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SOX6 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SOX6 35
  • 96.43 (n)
  • 98.1 (a)
SOX6 36
  • 94 (a)
(Canis familiaris)
Mammalia SOX6 35
  • 94.71 (n)
  • 97.24 (a)
SOX6 36
  • 94 (a)
(Mus musculus)
Mammalia Sox6 35
  • 92.46 (n)
  • 96.13 (a)
Sox6 16
Sox6 36
  • 95 (a)
(Pan troglodytes)
Mammalia SOX6 35
  • 99.6 (n)
  • 99.52 (a)
SOX6 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Sox6 35
  • 92.45 (n)
  • 97.2 (a)
(Monodelphis domestica)
Mammalia SOX6 36
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia SOX6 36
  • 94 (a)
(Gallus gallus)
Aves SOX6 35
  • 87.26 (n)
  • 93.82 (a)
SOX6 36
  • 89 (a)
(Anolis carolinensis)
Reptilia SOX6 36
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sox6 35
  • 79.18 (n)
  • 87.09 (a)
(Danio rerio)
Actinopterygii sox6 35
  • 76.4 (n)
  • 80.1 (a)
sox6 36
  • 78 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11718 35
fruit fly
(Drosophila melanogaster)
Insecta Sox102F 37
  • 54 (a)
Sox102F 36
  • 26 (a)
(Caenorhabditis elegans)
Secernentea egl-13 37
  • 71 (a)
egl-13 36
  • 31 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10481 35
Species with no ortholog for SOX6:
  • 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 SOX6 Gene

Gene Tree for SOX6 (if available)
Gene Tree for SOX6 (if available)

Paralogs for SOX6 Gene

Paralogs for SOX6 Gene

(10) SIMAP similar genes for SOX6 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with SOX6: view

Variants for SOX6 Gene

Sequence variations from dbSNP and Humsavar for SOX6 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs190929 -- 16,313,492(-) TCTCA(C/T)TGGAC intron-variant
rs297320 -- 16,341,763(+) ATAAT(C/T)AAAGT intron-variant
rs297321 -- 16,343,570(+) ATGAG(G/T)TGAGT intron-variant
rs212445 -- 16,371,474(+) ttttt(A/T)aaaaa intron-variant
rs297322 -- 16,300,282(-) TTTCT(C/T)CATTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SOX6 Gene

Variant ID Type Subtype PubMed ID
nsv832074 CNV Loss 17160897
esv268643 CNV Insertion 20981092
esv273859 CNV Insertion 20981092
esv1378524 CNV Insertion 17803354
esv8667 CNV Gain 19470904
esv272587 CNV Insertion 20981092
esv271326 CNV Insertion 20981092
esv2744134 CNV Deletion 23290073
esv2744135 CNV Deletion 23290073
dgv1034n71 CNV Loss 21882294
nsv467710 CNV Loss 19166990
esv2744136 CNV Deletion 23290073
esv2666456 CNV Deletion 23128226
nsv435922 CNV Deletion 17901297
nsv897015 CNV Loss 21882294
esv2461915 CNV Deletion 19546169
esv2631763 CNV Deletion 19546169
nsv510244 CNV Loss 20534489
nsv832075 CNV Gain 17160897
esv2744137 CNV Deletion 23290073
esv2744138 CNV Deletion 23290073
nsv897016 CNV Loss 21882294
esv2051843 CNV Deletion 18987734
esv2744139 CNV Deletion 23290073
esv2740902 CNV Deletion 23290073
esv2740786 CNV Deletion 23290073

Variation tolerance for SOX6 Gene

Residual Variation Intolerance Score: 2.23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.04; 21.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SOX6 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOX6 Gene

Disorders for SOX6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SOX6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
campomelic dysplasia
  • campomelic dysplasia with autosomal sex reversal
malignant ependymoma
  • ependymal neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search SOX6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SOX6

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SOX6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SOX6 Gene

Publications for SOX6 Gene

  1. Cloning, characterization and chromosome mapping of the human SOX6 gene. (PMID: 11255018) Cohen-Barak O. … Brilliant M.H. (Gene 2001) 2 3 4 23 67
  2. Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males. (PMID: 19714249) Liu Y.Z. … Deng H.W. (PLoS ONE 2009) 3 23
  3. Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death. (PMID: 10760285) Hagiwara N. … Brilliant M.H. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 23
  4. GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy. (PMID: 25199915) Broer L. … Murabito J.M. (J. Gerontol. A Biol. Sci. Med. Sci. 2015) 3
  5. Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. (PMID: 25249183) Lu X. … Gu D. (Hum. Mol. Genet. 2015) 3

Products for SOX6 Gene

Sources for SOX6 Gene

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