SOX10

Protein identityUniProt · HPA

UniProt accession

P56693

Gene

SOX10

Ensembl

ENSG00000100146

Chromosome

22

Canonical length

466 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

466 residues, UniProt reviewed canonical sequence.

>P56693|SOX10
     1  MAEEQDLSEV ELSPVGSEEP RCLSPGSAPS LGPDGGGGGS GLRASPGPGE LGKVKKEQQD
    61  GEADDDKFPV CIREAVSQVL SGYDWTLVPM PVRVNGASKS KPHVKRPMNA FMVWAQAARR
   121  KLADQYPHLH NAELSKTLGK LWRLLNESDK RPFIEEAERL RMQHKKDHPD YKYQPRRRKN
   181  GKAAQGEAEC PGGEAEQGGT AAIQAHYKSA HLDHRHPGEG SPMSDGNPEH PSGQSHGPPT
   241  PPTTPKTELQ SGKADPKRDG RSMGEGGKPH IDFGNVDIGE ISHEVMSNME TFDVAELDQY
   301  LPPNGHPGHV SSYSAAGYGL GSALAVASGH SAWISKPPGV ALPTVSPPGV DAKAQVKTET
   361  AGPQGPPHYT DQPSTSQIAY TSLSLPHYGS AFPSISRPQF DYSDHQPSGP YYGHSGQASG
   421  LYSAFSYMGP SQRPLYTAIS DPSPSGPQSH SPTHWEQPVY TTLSRP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SOX10 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.66

Highest tissue expression

152 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SOX10.

Disease | AllUniProt

Conditions SOX10 is implicated in, by any mechanism.

• Waardenburg syndrome 2E (WS2E) MIM:611584
• Waardenburg syndrome 4C (WS4C) MIM:613266
• Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) MIM:609136

Disease | GeneticClinVar

233 pathogenic / likely-pathogenic of 575 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Waardenburg syndrome type 4C
• Waardenburg syndrome type 2E
• PCWH syndrome
• SOX10-related disorder
• Waardenburg syndrome type 2E, without neurologic involvement

Disease | ImmuneIEDB

Conditions an epitope on SOX10 was assayed in.

• melanoma T cell
• skin melanoma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.21

gnomAD pLI

0.99

gnomAD missense Z

2.77

DepMap mean gene effect

-0.29

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anatomical structure morphogenesis
• cell maturation
• cellular response to progesterone stimulus
• cellular response to xenobiotic stimulus
• central nervous system myelination
• developmental growth
• digestive tract morphogenesis
• enteric nervous system development
• in utero embryonic development
• lacrimal gland development
• melanocyte differentiation
• morphogenesis of a branching epithelium
• morphogenesis of an epithelium
• negative regulation of apoptotic process
• negative regulation of canonical Wnt signaling pathway
• negative regulation of Schwann cell proliferation
• negative regulation of transcription by RNA polymerase II
• neural crest cell migration
• neuroblast proliferation
• oligodendrocyte development
• oligodendrocyte differentiation
• peripheral nervous system development
• positive regulation of DNA-templated transcription
• positive regulation of gene expression
• positive regulation of gliogenesis
• positive regulation of myelination
• positive regulation of neuroblast proliferation
• regulation of transcription by RNA polymerase II
• transcription elongation by RNA polymerase II

Molecular functions

• DNA binding
• DNA-binding transcription activator activity
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription factor binding
• identical protein binding
• promoter-specific chromatin binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• transcription cis-regulatory region binding

Cellular components

• chromatin
• mitochondrial outer membrane
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• High mobility group box domain
• Sox developmental protein N-terminal
• High mobility group box domain superfamily
• SOX Transcription Factors
• HMG (high mobility group) box
• Sox developmental protein N terminal

KeywordsUniProt

• Activator
• Cytoplasm
• Deafness
• DNA-binding
• Hirschsprung disease
• Kallmann syndrome
• Membrane
• Mitochondrion
• Mitochondrion outer membrane
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation
• Waardenburg syndrome

InteractionsUniProt · HPA

Protein binding partners of SOX10 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ARMCX3
• PAX3
• UBE2I