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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SOX10
SRY-box transcription factor 10
Chromosome 22 Β· 22q13.1
NCBI Gene: 6663Ensembl: ENSG00000100146.21HGNC: HGNC:11190UniProt: P56693
232PubMed Papers
23Diseases
0Drugs
228Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusnucleoplasmprotein bindingidentical protein bindingPCWH syndromeWaardenburg syndrome type 2ENeurologic Waardenburg-Shah syndromeWaardenburg syndrome type 4C
✦AI Summary

SOX10 is a SRY-box transcription factor essential for neural crest-derived cell differentiation and myelination. Functionally, SOX10 acts as a DNA-binding transcription factor that binds DNA via its HMG domain and undergoes conformational changes to activate downstream transcription factors 1. In the central nervous system, SOX10 plays a central role in oligodendrocyte maturation and CNS myelination by activating myelin genes including MYRF and MBP [UniProt]. In the peripheral nervous system, SOX10 regulates Schwann cell differentiation and myelination programs 2. SOX10 also governs development of neural crest derivatives including melanocytes and enteric nervous system neurons 3. SOX10 mutations cause multiple developmental disorders. Heterozygous mutations cause Waardenburg syndrome types 2 and 4, and peripheral demyelinating neuropathy with central dysmyelination (PCWH), reflecting its role in melanocyte, glial, and enteric neuron development 3. In cancer, SOX10 regulates melanoma tumor growth and cell-state plasticity; low SOX10 expression promotes aggressive neural stem cell-like phenotypes linked to therapy resistance 4. SOX10 protein stability is regulated by p300 acetyltransferase activity, offering potential therapeutic targets 5. In schwannomas, novel SOX10 indel mutations impair myelination gene transactivation despite retained DNA binding, suggesting a differentiation-blocking mechanism 2.

Sources cited
1
SOX10 is essential for neural crest development and causes Waardenburg syndrome and PCWH when mutated; regulates melanocytes, enteric nervous system, Schwann cells, and oligodendrocytes
PMID: 34667088
2
SOX10 protein binds DNA via HMG domain and undergoes conformational changes to activate transcription factors; responsible for gliogenesis from neural crest cells
PMID: 36198237
3
SOX10 indel mutations in schwannomas retain DNA binding but have impaired transactivation of glial differentiation and myelination gene programs
PMID: 37436963
4
Low SOX10 expression promotes neural stem cell-like glioblastoma cell states and therapy resistance through cell-state plasticity
PMID: 39285246
5
p300 acetyltransferase regulates SOX10 protein stability; p300 inhibition downregulates SOX10 and inhibits melanoma proliferation
PMID: 38994683
Disease Associationsβ“˜23
PCWH syndromeOpen Targets
0.81Strong
Waardenburg syndrome type 2EOpen Targets
0.80Strong
Neurologic Waardenburg-Shah syndromeOpen Targets
0.77Strong
Waardenburg syndrome type 4COpen Targets
0.77Strong
Waardenburg syndromeOpen Targets
0.74Strong
deaf blind hypopigmentation syndrome, Yemenite typeOpen Targets
0.56Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
Waardenburg syndrome type 1Open Targets
0.50Moderate
genetic disorderOpen Targets
0.48Moderate
Kallmann syndromeOpen Targets
0.46Moderate
Waardenburg syndrome type 4AOpen Targets
0.44Moderate
Rare genetic deafnessOpen Targets
0.44Moderate
Waardenburg syndrome type 2AOpen Targets
0.39Weak
Waardenburg syndrome type 2Open Targets
0.39Weak
Waardenburg-Shah syndromeOpen Targets
0.39Weak
congenital hypogonadotropic hypogonadismOpen Targets
0.37Weak
hypogonadotropic hypogonadismOpen Targets
0.30Weak
Hirschsprung diseaseOpen Targets
0.28Weak
Aganglionic megacolonOpen Targets
0.26Weak
Intellectual disabilityOpen Targets
0.15Weak
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung diseaseUniProt
Waardenburg syndrome 2EUniProt
Waardenburg syndrome 4CUniProt
Pathogenic Variants228
NM_006941.4(SOX10):c.1086dup (p.Pro363fs)Pathogenic
Waardenburg syndrome type 2E|not provided|Monogenic hearing loss
β˜…β˜…β˜†β˜†2025β†’ Residue 363
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys)Pathogenic
not provided|Deafness with anatomical inner ear anomalies|PCWH syndrome;Waardenburg syndrome type 4C;Waardenburg syndrome type 2E|Hypogonadotropic hypogonadism
β˜…β˜…β˜†β˜†2025β†’ Residue 161
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn)Pathogenic
PCWH syndrome|Waardenburg syndrome type 4C|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 135
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)Pathogenic
not provided|Hypogonadism with anosmia|Waardenburg syndrome type 4C
β˜…β˜…β˜†β˜†2025β†’ Residue 30
NM_006941.4(SOX10):c.220G>T (p.Glu74Ter)Pathogenic
Waardenburg syndrome type 4C|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 74
NM_006941.4(SOX10):c.1090C>T (p.Gln364Ter)Pathogenic
Waardenburg syndrome type 4C|not provided|SOX10-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 364
NM_006941.4(SOX10):c.44_62del (p.Val15fs)Pathogenic
Waardenburg syndrome type 2A|Waardenburg syndrome type 4C|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 15
NM_006941.4(SOX10):c.523C>T (p.Pro175Ser)Pathogenic
Inborn genetic diseases|Waardenburg syndrome type 2E|SOX10-related disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 175
NM_006941.4(SOX10):c.470C>T (p.Ala157Val)Pathogenic
Waardenburg syndrome type 4C|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 157
NM_006941.4(SOX10):c.127C>T (p.Arg43Ter)Pathogenic
Waardenburg syndrome type 4C|Waardenburg syndrome type 2E|SOX10-related disorder|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 43
NM_006941.4(SOX10):c.232C>T (p.Gln78Ter)Pathogenic
not provided|Waardenburg syndrome type 2E|PCWH syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 78
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs)Pathogenic
not provided|Waardenburg syndrome type 2E|PCWH syndrome;Waardenburg syndrome type 2E;Waardenburg syndrome type 4C
β˜…β˜…β˜†β˜†2022β†’ Residue 454
NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter)Pathogenic
Waardenburg syndrome type 2E|not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 399
NM_006941.4(SOX10):c.424T>C (p.Trp142Arg)Pathogenic
Rare genetic deafness|Waardenburg syndrome type 2E
β˜…β˜…β˜†β˜†2019β†’ Residue 142
NM_006941.4(SOX10):c.1107del (p.His368_Tyr369insTer)Pathogenic
not provided|Waardenburg syndrome type 4C
β˜…β˜…β˜†β˜†2018β†’ Residue 368
NM_006941.4(SOX10):c.141del (p.Pro48fs)Pathogenic
not provided|Waardenburg syndrome type 4C
β˜…β˜…β˜†β˜†2016β†’ Residue 48
NM_006941.4(SOX10):c.524C>T (p.Pro175Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 175
NM_006941.4(SOX10):c.378C>G (p.Tyr126Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 126
NM_006941.4(SOX10):c.428+2T>CLikely pathogenic
Waardenburg syndrome type 2E|Inborn genetic diseases
β˜…β˜†β˜†β˜†2025
NM_006941.4(SOX10):c.939C>G (p.Tyr313Ter)Pathogenic
PCWH syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 313
View on ClinVar β†—
Related Genes
EGR2Protein interaction99%GJB1Protein interaction99%MAGProtein interaction99%MBPProtein interaction99%NFATC4Protein interaction99%POU3F1Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Heart
8%
Ovary
0%
Liver
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SOX10EGR2GJB1MAGMBPNFATC4POU3F1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P56693
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.25Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.10 [0.04–0.25]
RankingsWhere SOX10 stands among ~20K protein-coding genes
  • #1,732of 20,598
    Most Researched232 Β· top 10%
  • #283of 5,498
    Most Pathogenic Variants228 Β· top 10%
  • #750of 17,882
    Most Constrained (LOEUF)0.25 Β· top 5%
Genes detectedSOX10
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
PMID: 34667088
J Med Genet Β· 2022
1.00
2
SOX10.
PMID: 37336549
J Clin Pathol Β· 2023
0.90
3
Targeting SOX10-deficient cells to reduce the dormant-invasive phenotype state in melanoma.
PMID: 35296667
Nat Commun Β· 2022
0.84
4
Sialadenoma Papilliferum.
PMID: 33526222
Surg Pathol Clin Β· 2021
0.80
5
SOX10 Loss Sensitizes Melanoma Cells to Cytokine-Mediated Inflammatory Cell Death.
PMID: 37847239
Mol Cancer Res Β· 2024
0.72