SOX10 Gene (Protein Coding)

SRY-Box Transcription Factor 10

GC22M046233
GIFtS:
45
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 neu... See more...

Aliases for SOX10 Gene

Aliases for SOX10 Gene

  • SRY-Box Transcription Factor 10 2 3 5
  • Dominant Megacolon, Mouse, Human Homolog Of 2 3
  • SRY (Sex Determining Region Y)-Box 10 2 3
  • Transcription Factor SOX-10 3 4
  • SRY-Box 10 2 3
  • WS2E 2 3
  • DOM 2 3
  • WS4 2 3
  • SRY-Related HMG-Box Gene 10 3
  • SOX10 5
  • PCWH 3
  • WS4C 3

External Ids for SOX10 Gene

Previous GeneCards Identifiers for SOX10 Gene

  • GC22M034982
  • GC22M036610
  • GC22M036611
  • GC22M036692
  • GC22M038366
  • GC22M021334
  • GC22M038392
  • GC22M038514
  • GC22M043822
  • GC22M044201
  • GC22M044533
  • GC22M045379
  • GC22M038826
  • GC22M039963
  • GC22M040654
  • GC22M041103
  • GC22M041506
  • GC22M041916
  • GC22M042356
  • GC22M043450

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 Transcription Factor 10) is a Protein Coding gene. Diseases associated with SOX10 include Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease and Waardenburg Syndrome, Type 2E. Among its related pathways are Neural Crest Differentiation and Neural Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is SOX9.

UniProtKB/Swiss-Prot Summary for SOX10 Gene

  • Transcription factor that plays a central role in developing and mature glia (By similarity). Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in oligodendrocyte maturation and CNS myelination (By similarity). Once induced, MYRF cooperates with SOX10 to implement the myelination program (By similarity). Transcriptional activator of MITF, acting synergistically with PAX3 (PubMed:21965087). Transcriptional activator of MBP, via binding to the gene promoter (By similarity).

Gene Wiki entry for SOX10 Gene

Additional gene information for SOX10 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOX10 Gene

Genomics for SOX10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SOX10 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH22J037980 Promoter/Enhancer 1.9 VISTA EPDnew Ensembl ENCODE dbSUPER 600.7 +4.4 4382 4.1 HNRNPL GATAD2A CTCF ZBTB33 TEAD4 ZIC2 RXRB SP1 POLR2A EZH2 SOX10 EIF3L MIR6820 C22orf23 POLR2F
GH22J037985 Promoter/Enhancer 0.8 VISTA Ensembl dbSUPER 600.7 +1.1 1114 1.4 SOX10 APOBEC3B MIR6820 C22orf23 POLR2F
GH22J037988 Enhancer 0.3 dbSUPER 600.7 -1.7 -1654 0.9 RFX5 MIR4534 SOX10 piR-57460-458 POLR2F PICK1
GH22J037987 Enhancer 0.2 dbSUPER 600.7 0.0 0 0.1 MIR4534 SOX10 MIR6820 C22orf23 POLR2F
GH22J037990 Enhancer 0.2 dbSUPER 600.7 -0.3 -302 0.1 MIR4534 SOX10 POLR2F PICK1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SOX10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOX10

Top Transcription factor binding sites by QIAGEN in the SOX10 gene promoter:
  • AP-2gamma
  • AREB6
  • E47
  • HOXA5
  • Lmo2
  • NF-1
  • NF-1/L
  • RREB-1
  • USF-1
  • USF1

Genomic Locations for SOX10 Gene

Genomic Locations for SOX10 Gene
chr22:37,970,686-37,987,422
(GRCh38/hg38)
Size:
16,737 bases
Orientation:
Minus strand
chr22:38,366,693-38,383,429
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for SOX10 Gene

Proteins for SOX10 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:
    • Monomer. Interacts with ARMCX3 at the mitochondrial outer membrane surface. Interacts with PAX3 (PubMed:21965087).

    Alternative splice isoforms for SOX10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SOX10 Gene

Protein Expression for SOX10 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SOX10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SOX10 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SOX10 Gene

Domains & Families for SOX10 Gene

Gene Families for SOX10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SOX10 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SOX10 Gene

GenScript: Design optimal peptide antigens:
  • SRY (Sex determining region Y)-box 10 (A6PVD2_HUMAN)
  • cDNA FLJ57895, highly similar to Transcription factor SOX-10 (B4DV62_HUMAN)
  • SOX10 protein (Q6FHW7_HUMAN)
  • Transcription factor SOX-10 (SOX10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P56693

UniProtKB/Swiss-Prot:

SOX10_HUMAN :
  • The transactivation domains TAM and TAC (for transactivation domain in the middle and at the C-terminus, respectively) are required to contact transcriptional coactivators and basal transcriptional machinery components and thereby induce gene transactivation.
Domain:
  • The transactivation domains TAM and TAC (for transactivation domain in the middle and at the C-terminus, respectively) are required to contact transcriptional coactivators and basal transcriptional machinery components and thereby induce gene transactivation.
genes like me logo Genes that share domains with SOX10: view

Function for SOX10 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
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  6. Cell Line

Molecular function for SOX10 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that plays a central role in developing and mature glia (By similarity). Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in oligodendrocyte maturation and CNS myelination (By similarity). Once induced, MYRF cooperates with SOX10 to implement the myelination program (By similarity). Transcriptional activator of MITF, acting synergistically with PAX3 (PubMed:21965087). Transcriptional activator of MBP, via binding to the gene promoter (By similarity).
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

Phenotypes From GWAS Catalog for SOX10 Gene

Gene Ontology (GO) - Molecular Function for SOX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding ISS --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0000987 proximal promoter sequence-specific DNA binding IBA 21873635
GO:0001216 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding ISS --
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

CRISPR 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX10

Clone Products

  • Addgene plasmids for SOX10

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. Mitochondrion outer membrane. Peripheral membrane protein. Cytoplasmic side.

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 3
mitochondrion 3
cytosol 3
plasma membrane 2
extracellular 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SOX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IEA --
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,ISS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SOX10: view

Pathways & Interactions for SOX10 Gene

PathCards logo

SuperPathways 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
1 R&D Systems pathway for SOX10 Gene
2 Qiagen pathways for SOX10 Gene
  • Melanocyte Development and Pigmentation
  • Molecular Mechanisms of Cancer

SIGNOR curated interactions for SOX10 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SOX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0001701 in utero embryonic development IEA --
GO:0001755 neural crest cell migration IBA 21873635
GO:0002009 morphogenesis of an epithelium IBA 21873635
GO:0002052 positive regulation of neuroblast proliferation IEA --
genes like me logo Genes that share ontologies with SOX10: view

Drugs & Compounds for SOX10 Gene

Products:

  1. Drug

(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 2588
Docetaxel Approved, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2330
Paclitaxel Approved, Vet_approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 3701

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SOX10 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX10

Clone Products

  • Addgene plasmids for SOX10

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

No ASD Table

Relevant External Links for SOX10 Gene

GeneLoc Exon Structure for
SOX10

Expression for SOX10 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SOX10 Gene

mRNA expression in normal human tissues for SOX10 Gene
mRNA expression by BioGPS for SOX10 GenemRNA expression by GTEx 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 and MOPED for SOX10 Gene



Protein tissue co-expression partners for SOX10 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Nervous system(4)
  • Eye(2.8)
  • Muscle(2.6)
  • Heart(2.4)
  • Bone(2.3)
  • Blood(2.2)

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
Regions:
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

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 30 31
  • 96.37 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SOX10 30 31
  • 94.13 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SOX10 30 31
  • 92.7 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Sox10 30
  • 91.49 (n)
Mouse
(Mus musculus)
 Mammalia Sox10 30 17 31
  • 91.42 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SOX10 31
  • 90 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SOX10 30 31
  • 78.92 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SOX10 31
  • 84 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia sox10 30
  • 70.45 (n)
African clawed frog
(Xenopus laevis)
 Amphibia LOC398422 30
Zebrafish
(Danio rerio)
 Actinopterygii sox10 30 31
  • 69.68 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Sox100B 31 32
  • 27 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea sox-4 31
  • 30 (a)
 OneToMany
Species where no ortholog for SOX10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SOX10: view image

Paralogs for SOX10 Gene

Paralogs for SOX10 Gene

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

  • SOX10_HUMAN
  • A6PVD3_HUMAN
  • H0Y5N4_HUMAN
genes like me logo Genes that share paralogs with SOX10: view

Variants for SOX10 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOX10 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
635541 Likely Pathogenic: Waardenburg syndrome type 2E 37,983,355(-) A/G SPLICE_DONOR_VARIANT,INTRON_VARIANT
637874 Uncertain Significance: Charcot-Marie-Tooth disease 37,973,859(-) G/C NONSENSE,INTRON_VARIANT
666758 Likely Benign: not specified 37,973,651(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
666759 Likely Benign: not specified 37,974,047(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
666923 Uncertain Significance: not specified 37,983,714(-) G/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SOX10 Gene

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)

Additional Variant Information for SOX10 Gene

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

SNP Genotyping and Copy Number Assay Products

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

(78) MalaCards diseases for SOX10 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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
  • 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.

Additional Disease Information for SOX10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (Human molecular genetics 1999) 2 3 4 23
  2. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. (PMID: 9462749) Pingault V … Goossens M (Nature genetics 1998) 2 3 4 23
  3. Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PMID: 19320733) Fernandez LP … Ribas G (Experimental dermatology 2009) 3 23 41
  4. Frequent mutations in the MITF pathway in melanoma. (PMID: 19422606) Cronin JC … Samuels Y (Pigment cell & melanoma research 2009) 3 23 41
  5. 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) Morín M … del Castillo I (American journal of medical genetics. Part A 2008) 3 4 23

ExternalLinks

View latest publications for SOX10 gene in Mastermind

Products for SOX10 Gene

  • Addgene plasmids for SOX10
  • Signalway ELISA kits for SOX10

Sources for SOX10 Gene