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Aliases for SOX10 Gene

Aliases for SOX10 Gene

  • SRY-Box 10 2 3 5
  • Dominant Megacolon, Mouse, Human Homolog Of 2 3
  • SRY (Sex Determining Region Y)-Box 10 2 3
  • SRY-Related HMG-Box Gene 10 3
  • Transcription Factor SOX-10 3
  • SRY Box 10 2
  • PCWH 3
  • WS2E 3
  • WS4C 3
  • DOM 3
  • WS4 3

External Ids for SOX10 Gene

Previous GeneCards Identifiers for SOX10 Gene

  • GC22M034982
  • GC22M036610
  • GC22M036611
  • GC22M036692
  • GC22M038366
  • GC22M021334
  • GC22M038392
  • GC22M038514
  • GC22M038826
  • GC22M039963
  • GC22M040654

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]

CIViC summary for SOX10 Gene

GeneCards Summary for SOX10 Gene

SOX10 (SRY-Box 10) is a Protein Coding gene. Diseases associated with SOX10 include Pcwh Syndrome and Waardenburg Syndrome, Type 2E, With Or Without Neurologic Involvement. Among its related pathways are Melanocyte Development and Pigmentation and Neural Crest Differentiation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is SOX9.

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

Regulatory Elements for SOX10 Gene

Enhancers for SOX10 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G038015 1.7 FANTOM5 Ensembl ENCODE dbSUPER 22.3 -30.0 -30027 2.9 HDAC1 HDGF ZBTB40 RAD21 ZNF48 RARA EGR1 SCRT2 ZNF143 EGR2 SOX10 GC22P038026 MIR4534
GH22G038032 2.1 VISTA Ensembl ENCODE dbSUPER 12 -46.8 -46769 3.6 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF766 SOX10 POLR2F BAIAP2L2 ENSG00000222044 GC22P038026
GH22G037931 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.7 +54.3 54300 2.9 HDGF MLX ARNT ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZNF207 ZNF143 GALR3 EIF3L ENSG00000230149 ENSG00000273076 ENSG00000272669 ENSG00000225450 RNU6-900P MICALL1 SOX10 PRDX3P1
GH22G038294 1.7 Ensembl ENCODE dbSUPER 10.8 -313.5 -313521 12.5 CREB3L1 ZFP64 DMAP1 FEZF1 YY1 ZNF143 ZNF416 ZNF263 SP3 TBX21 CBX7 ENSG00000230149 CBX6 ENSG00000273076 NPTXR TMEM184B ENSG00000272669 ENSG00000225450 APOBEC3D PRDX3P1
GH22G038309 1.8 FANTOM5 ENCODE dbSUPER 9.9 -326.8 -326815 11.9 MLX CREB3L1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TMEM184B PICK1 MAFF KCNJ4 KDELR3 SOX10 POLR2F PDXP GGA1 SUN2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SOX10 on UCSC Golden Path with GeneCards custom track

Genomic Location for SOX10 Gene

Chromosome:
22
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

Genes around SOX10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOX10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOX10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for SOX10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SOX10 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SOX10 (SOX10)

No data available for DME Specific Peptides for SOX10 Gene

Domains & Families for SOX10 Gene

Gene Families for SOX10 Gene

Protein Domains for SOX10 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for SOX10 Gene

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 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA --
GO:0001190 transcriptional activator activity, RNA polymerase II transcription factor binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with SOX10: view
genes like me logo Genes that share phenotypes with SOX10: view

Human Phenotype Ontology for SOX10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SOX10 Gene

MGI Knock Outs for SOX10:

Animal Model Products

Targeted motifs for SOX10 Gene
HOMER Transcription Factor Regulatory Elements motif SOX10
  • Consensus sequence: CCWTTGTYYB Submotif: canonical Cell Type: SciaticNerve GEO ID: GSE35132

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SOX10

Cell Line Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA and Transcription Factor Targets for SOX10 Gene

Localization for SOX10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOX10 Gene

Cytoplasm. Nucleus.

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 SOX10 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
mitochondrion 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for SOX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0031315 extrinsic component of mitochondrial outer membrane IEA --
genes like me logo Genes that share ontologies with SOX10: view

Pathways & Interactions for SOX10 Gene

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

Pathways by source 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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with SOX10: view

No data available for SIGNOR curated interactions for SOX10 Gene

Drugs & Compounds for SOX10 Gene

(3) Drugs for SOX10 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 2050
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1967
Paclitaxel Approved, Vet_approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 2864

(1) Additional Compounds for SOX10 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SOX10

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x7.7) and Brain - Spinal cord (cervical c-1) (x6.4).

Protein differential expression in normal tissues from HIPED for SOX10 Gene

This gene is overexpressed in Spinal cord (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SOX10 Gene



Protein tissue co-expression partners for SOX10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SOX10 Gene:

SOX10

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.

Evidence on tissue expression from TISSUES for SOX10 Gene

  • Skin(4.9)
  • Intestine(4.3)
  • Nervous system(3.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SOX10 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • inner ear
  • jaw
  • lacrimal apparatus
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • pharynx
  • pituitary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • small intestine
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SOX10: view

Primer Products

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 34 35
  • 96.37 (n)
dog
(Canis familiaris)
Mammalia SOX10 34 35
  • 94.13 (n)
cow
(Bos Taurus)
Mammalia SOX10 34 35
  • 92.7 (n)
rat
(Rattus norvegicus)
Mammalia Sox10 34
  • 91.49 (n)
mouse
(Mus musculus)
Mammalia Sox10 34 16 35
  • 91.42 (n)
oppossum
(Monodelphis domestica)
Mammalia SOX10 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves SOX10 34 35
  • 78.92 (n)
lizard
(Anolis carolinensis)
Reptilia SOX10 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sox10 34
  • 70.45 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398422 34
zebrafish
(Danio rerio)
Actinopterygii sox10 34 35
  • 69.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sox100B 36 35
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea sox-4 35
  • 30 (a)
OneToMany
Species where no ortholog for SOX10 was found in the sources mined by GeneCards:
  • 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

(24) SIMAP similar genes for SOX10 Gene using alignment to 3 proteins:

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
rs121909117 Pathogenic, Waardenburg syndrome 4C (WS4C) [MIM:613266] 37,978,094(-) GGAGG(C/T)TGAGC intron-variant, reference, missense
rs267607081 Pathogenic, Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136] 37,978,043(-) GTACC(A/C)GCCCA intron-variant, reference, missense
rs74315515 Pathogenic, Waardenburg syndrome 2E (WS2E) [MIM:611584] 37,983,381(-) GCTCA(C/G)CAAGA intron-variant, reference, missense
rs750566714 Waardenburg syndrome 2E (WS2E) [MIM:611584] 37,978,082(+) GCATA(C/T)GGAGC intron-variant, reference, missense
VAR_066747 Waardenburg syndrome 4C (WS4C) [MIM:613266]

Variation tolerance for SOX10 Gene

Residual Variation Intolerance Score: 15.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.81; 16.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SOX10 Gene

Human Gene Mutation Database (HGMD)
SOX10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SOX10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SOX10 Gene

Disorders for SOX10 Gene

MalaCards: The human disease database

(37) MalaCards diseases for SOX10 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pcwh syndrome
  • peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease
waardenburg syndrome, type 2e, with or without neurologic involvement
  • waardenburg syndrome type 2e
waardenburg syndrome, type 4c
  • waardenburg syndrome, type 4a
hirschsprung disease 1
  • hirschsprung's disease
waardenburg's syndrome
  • van der hoeve halbertsona waardenburg syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SOX10 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SOX10_HUMAN
  • 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.
  • 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.

Relevant External Links for SOX10

Genetic Association Database (GAD)
SOX10
Human Genome Epidemiology (HuGE) Navigator
SOX10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SOX10
genes like me logo Genes that share disorders with SOX10: view

No data available for Genatlas for SOX10 Gene

Publications for SOX10 Gene

  1. 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 22 64
  2. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. (PMID: 9462749) Pingault V. … Goossens M. (Nat. Genet. 1998) 2 3 4 22 64
  3. Frequent mutations in the MITF pathway in melanoma. (PMID: 19422606) Cronin J.C. … Samuels Y. (Pigment Cell Melanoma Res 2009) 3 22 46 64
  4. A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV. (PMID: 18348274) Morin M. … del Castillo I. (Am. J. Med. Genet. A 2008) 3 4 22 64
  5. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. (PMID: 17999358) Bondurand N. … Pingault V. (Am. J. Hum. Genet. 2007) 3 4 22 64

Products for SOX10 Gene

Sources for SOX10 Gene

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