SOX10

Chr 22q13.1

SRY-box transcription factor 10

Aliases:: DOM, WS4, WS2E, SOX-10
MANE:: ENST00000396884.8

OMIM: 602229 ↗NCBI: 6663 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SOX10 · P56693

v62025-08-01

Predicted Aligned Error matrix for SOX10 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

55.8/ 100

Low

466 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)9%
Low(50–70)17%
Very low(< 50)60%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Deafness and congenital structural abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences in sex development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial Hirschsprung Disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gastrointestinal neuromuscular disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

PCWH syndrome
0.81
Waardenburg syndrome type 2E
0.80
Neurologic Waardenburg-Shah syndrome
0.77
Waardenburg syndrome type 4C
0.76
Waardenburg syndrome
0.74
Waardenburg-Shah syndrome
0.72
deaf blind hypopigmentation syndrome, Yemenite type
0.56
neurodegenerative disease
0.54
Waardenburg syndrome type 1
0.50
hereditary disease
0.49

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription factor SOX-10

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)