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Aliases for SOX10 Gene

Aliases for SOX10 Gene

  • SRY (Sex Determining Region Y)-Box 10 2 3
  • PCWH 3 6
  • WS4C 3 6
  • WS4 3 6
  • Dominant Megacolon, Mouse, Human Homolog Of 3
  • SRY-Related HMG-Box Gene 10 3
  • Transcription Factor SOX-10 3
  • Dominant Megacolon 2
  • Human Homolog Of 2
  • Mouse 2
  • WS2E 3
  • DOM 3

External Ids for SOX10 Gene

Summaries for SOX10 Gene

Entrez Gene Summary for SOX10 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 acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for SOX10 Gene

SOX10 (SRY (Sex Determining Region Y)-Box 10) is a Protein Coding gene. Diseases associated with SOX10 include waardenburg syndrome, type 4c and waardenburg syndrome, type 2e, with or without neurologic involvement. Among its related pathways are ERK Signaling and Neural Crest Differentiation. GO annotations related to this gene include identical protein binding and transcription factor binding. An important paralog of this gene is SOX3.

UniProtKB/Swiss-Prot for SOX10 Gene

  • Transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP. Could confer cell specificity to the function of other transcription factors in developing and mature glia (By similarity).

Gene Wiki entry for SOX10 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOX10 Gene

Genomics for SOX10 Gene

Genomic Location for SOX10 Gene

Start:
37,970,686 bp from pter
End:
37,987,422 bp from pter
Size:
16,737 bases
Orientation:
Minus strand

Genomic View for SOX10 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SOX10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOX10 Gene

Regulatory Elements for SOX10 Gene

Proteins for SOX10 Gene

  • Protein details for SOX10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56693-SOX10_HUMAN
    Recommended name:
    Transcription factor SOX-10
    Protein Accession:
    P56693
    Secondary Accessions:
    • B4DV62
    • Q6FHW7

    Protein attributes for SOX10 Gene

    Size:
    466 amino acids
    Molecular mass:
    49911 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SOX10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SOX10 Gene

Proteomics data for SOX10 Gene at MOPED

Post-translational modifications for SOX10 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys140

Other Protein References for SOX10 Gene

No data available for DME Specific Peptides for SOX10 Gene

Domains for SOX10 Gene

Gene Families for SOX10 Gene

HGNC:
  • SOX :SRY (sex determining region Y)-boxes

Protein Domains for SOX10 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P56693

UniProtKB/Swiss-Prot:

SOX10_HUMAN
Domain:
  • Contains 1 HMG box DNA-binding domain.:
    • P56693
genes like me logo Genes that share domains with SOX10: view

Function for SOX10 Gene

Molecular function for SOX10 Gene

GENATLAS Biochemistry: SRY related HMG box gene 10,expressed in neural crest cells during early development and in glial cells of the peripheral and central nervous system during late development and in adult,playing an essential role in the development of neural-crest-derived human cell lineages,homolog to mouse dominant megacolon (Dom),expressed in pancreas,prostate,ovary,stomach,spinal cord trachea,adrenal gland and brain,modulator of LINE retroposons promoter activity
UniProtKB/Swiss-Prot Function: Transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP. Could confer cell specificity to the function of other transcription factors in developing and mature glia (By similarity).

Gene Ontology (GO) - Molecular Function for SOX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity --
GO:0001190 RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003677 DNA binding --
genes like me logo Genes that share ontologies with SOX10: view
genes like me logo Genes that share phenotypes with SOX10: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SOX10 Gene

Localization for SOX10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOX10 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SOX10 Gene COMPARTMENTS Subcellular localization image for SOX10 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
mitochondrion 2
extracellular 1

Gene Ontology (GO) - Cellular Components for SOX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm --
GO:0031315 extrinsic component of mitochondrial outer membrane IEA --
genes like me logo Genes that share ontologies with SOX10: view

Pathways for SOX10 Gene

genes like me logo Genes that share pathways with SOX10: view

Pathways by source for SOX10 Gene

1 BioSystems pathway for SOX10 Gene

Gene Ontology (GO) - Biological Process for SOX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001755 neural crest cell migration IEA --
GO:0002052 positive regulation of neuroblast proliferation IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 9722528
genes like me logo Genes that share ontologies with SOX10: view

Compounds for SOX10 Gene

(1) Novoseek inferred chemical compound relationships for SOX10 Gene

Compound -log(P) Hits PubMed IDs
dopachrome 61.2 3

(3) PharmGKB related drug/compound annotations for SOX10 Gene

Drug/compound Annotation
carboplatin CA
docetaxel CA
paclitaxel CA
genes like me logo Genes that share compounds with SOX10: view

Transcripts for SOX10 Gene

Unigene Clusters for SOX10 Gene

SRY (sex determining region Y)-box 10:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SOX10 Gene

No ASD Table

Relevant External Links for SOX10 Gene

GeneLoc Exon Structure for
SOX10
ECgene alternative splicing isoforms for
SOX10

Expression for SOX10 Gene

mRNA expression in normal human tissues for SOX10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SOX10 Gene

This gene is overexpressed in Nerve - Tibial (7.7) and Brain - Spinal cord (cervical c-1) (6.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SOX10 Gene

SOURCE GeneReport for Unigene cluster for SOX10 Gene Hs.376984

mRNA Expression by UniProt/SwissProt for SOX10 Gene

P56693-SOX10_HUMAN
Tissue specificity: Expressed in fetal brain and in adult brain, heart, small intestine and colon
genes like me logo Genes that share expressions with SOX10: view

Orthologs for SOX10 Gene

This gene was present in the common ancestor of animals.

Orthologs for SOX10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SOX10 35
  • 96.37 (n)
  • 94.9 (a)
SOX10 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SOX10 35
  • 92.7 (n)
  • 98.28 (a)
SOX10 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SOX10 35
  • 94.13 (n)
  • 98.71 (a)
SOX10 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sox10 35
  • 91.42 (n)
  • 98.5 (a)
Sox10 16
Sox10 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SOX10 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sox10 35
  • 91.49 (n)
  • 97.42 (a)
chicken
(Gallus gallus)
Aves SOX10 35
  • 78.92 (n)
  • 86 (a)
SOX10 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SOX10 36
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398422 35
tropical clawed frog
(Silurana tropicalis)
Amphibia sox10 35
  • 70.45 (n)
  • 79.17 (a)
zebrafish
(Danio rerio)
Actinopterygii sox10 35
  • 69.68 (n)
  • 69.3 (a)
sox10 36
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sox100B 36
  • 27 (a)
OneToMany
Sox100B 37
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea sox-4 36
  • 30 (a)
OneToMany
Species with no ortholog for SOX10:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 SOX10 Gene

ENSEMBL:
Gene Tree for SOX10 (if available)
TreeFam:
Gene Tree for SOX10 (if available)

Paralogs for SOX10 Gene

Selected SIMAP similar genes for SOX10 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for SOX10 Gene

genes like me logo Genes that share paralogs with SOX10: view

Variants for SOX10 Gene

Sequence variations from dbSNP and Humsavar for SOX10 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
VAR_021386 Waardenburg syndrome 2E (WS2E)
VAR_066747 Waardenburg syndrome 4C (WS4C)
VAR_066748 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH)
VAR_066748 Waardenburg syndrome 2E (WS2E)
VAR_066749 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH)

Structural Variations from Database of Genomic Variants (DGV) for SOX10 Gene

Variant ID Type Subtype PubMed ID
nsv915035 CNV Loss 21882294
nsv915053 CNV Loss 21882294

Relevant External Links for SOX10 Gene

HapMap Linkage Disequilibrium report
SOX10
Human Gene Mutation Database (HGMD)
SOX10
Locus Specific Mutation Databases (LSDB)
SOX10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOX10 Gene

Disorders for SOX10 Gene

(3) OMIM Diseases for SOX10 Gene (602229)

UniProtKB/Swiss-Prot

SOX10_HUMAN
  • Waardenburg syndrome 2E (WS2E) [MIM:611584]: An autosomal dominant auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. Individuals with WS2E may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Some patients can manifest features of Kallmann syndrome. {ECO:0000269 PubMed:10441344, ECO:0000269 PubMed:17999358, ECO:0000269 PubMed:21898658}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Waardenburg syndrome 4C (WS4C) [MIM:613266]: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). {ECO:0000269 PubMed:18348274, ECO:0000269 PubMed:21898658, ECO:0000269 PubMed:9462749}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]: A complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease. {ECO:0000269 PubMed:10762540, ECO:0000269 PubMed:15004559, ECO:0000269 PubMed:19208381, ECO:0000269 PubMed:21898658}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(22) Novoseek inferred disease relationships for SOX10 Gene

Disease -log(P) Hits PubMed IDs
shah-waardenburg syndrome 97.6 22
waardenburgs syndrome 91.9 14
yemenite deaf-blind hypopigmentation syndrome 89.4 3
hirschsprung disease 87.6 25
leukodystrophy 69.5 4

Relevant External Links for SOX10

Genetic Association Database (GAD)
SOX10
Human Genome Epidemiology (HuGE) Navigator
SOX10
genes like me logo Genes that share disorders with SOX10: view

Publications for SOX10 Gene

  1. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. (PMID: 9462749) Pingault V. … Goossens M. (Nat. Genet. 1998) 2 3 4 23
  2. A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. (PMID: 10441344) Bondurand N. … Goossens M. (Hum. Mol. Genet. 1999) 2 3 4 23
  3. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. (PMID: 10482261) Inoue K. … Lupski J.R. (Ann. Neurol. 1999) 3 23 48
  4. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. (PMID: 10762540) Touraine R.L. … Lyonnet S. (Am. J. Hum. Genet. 2000) 3 4 23
  5. Functional analysis of Sox10 mutations found in human Waardenburg- Hirschsprung patients. (PMID: 9722528) Kuhlbrodt K. … Wegner M. (J. Biol. Chem. 1998) 3 4 23

Products for SOX10 Gene

Sources for SOX10 Gene

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