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Gene

SOX10

SRY-box transcription factor 10

Summary

Cytogenetic location
22q13.1
Coordinates
Chromosome 22: 37,972,312–37,984,555 (GRCh38)
Exons
4 exons across 12.2 kb
Protein
466 amino acids
Also known as
DOM, WS4, WS2E, SOX-10
MANE Select transcript
ENST00000396884.8NM_006941.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Waardenburg Syndrome

    • Waardenburg-Shah Syndrome

      Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

    • A group of conditions (types 1 to 4) causing hearing loss and pigment changes of the hair, skin and eyes, caused by genes such as PAX3, MITF, SOX10, EDNRB and EDN3.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong

How SOX10 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 22, with a bracket where SOX10 sits. SOX10 and 30 genes near it on chromosome 22, from 37,478,434 to 38,478,433.Chromosome 2222q13.1p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3337.6 Mb37.8 Mb38 Mb38.2 Mb38.4 MbMFNG: 37,464,544–37,486,432, reverse strandMFNGCARD10: 37,490,362–37,519,591, reverse strandCARD10CDC42EP1: 37,555,112–37,571,052, forward strandCDC42EP1LGALS2: 37,570,246–37,582,616, reverse strandLGALS2GGA1: 37,608,474–37,633,564, forward strandGGA1SH3BP1: 37,634,654–37,656,117, forward strand: 37,639,693–37,666,932, forward strandPDXP: 37,658,715–37,666,934, forward strandPDXPLGALS1: 37,675,587–37,683,414, forward strandLGALS1NOL12: 37,681,673–37,693,476, forward strandNOL12: 37,686,414–37,726,503, forward strandTRIOBP: 37,696,983–37,776,581, forward strandTRIOBPH1-0: 37,805,229–37,807,432, forward strandH1-0GCAT: 37,807,872–37,817,386, forward strandGCATGALR3: 37,822,198–37,825,851, forward strandGALR3ANKRD54: 37,830,853–37,849,327, reverse strandANKRD54EIF3L: 37,848,868–37,889,407, forward strandEIF3LMICALL1: 37,905,657–37,942,822, forward strandMICALL1C22orf23: 37,943,050–37,953,669, reverse strandC22orf23POLR2F: 37,952,607–38,041,932, forward strandPOLR2FSOX10: 37,972,312–37,984,555, reverse strandSOX10PICK1: 38,056,311–38,076,050, forward strandPICK1SLC16A8: 38,078,134–38,084,186, reverse strandSLC16A8BAIAP2L2: 38,084,652–38,111,015, reverse strandBAIAP2L2PLA2G6: 38,111,495–38,214,778, reverse strandPLA2G6MAFF: 38,200,767–38,219,321, forward strandMAFFTMEM184B: 38,215,914–38,273,805, reverse strandTMEM184BCSNK1E: 38,281,747–38,320,044, reverse strandCSNK1ETPTEP2-CSNK1E: 38,291,918–38,398,522, reverse strandTPTEP2-CSNK1EKCNJ4: 38,426,327–38,455,902, reverse strandKCNJ4KDELR3: 38,468,021–38,483,762, forward strandKDELR3Diagram of SOX10: 4 exons on the reverse strand of chromosome 22Exon 4: 39 known disease-causing sitesExon 3: 27 known disease-causing sitesExon 2: 57 known disease-causing sitesExon 4: 37,972,312–37,974,198, 1,887 basesExon 3: 37,977,867–37,978,135, 269 basesExon 2: 37,983,357–37,983,868, 512 basesExon 1: 37,984,339–37,984,555, 217 bases43215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.9 kb of the gene's 12.2 kb; 1,401 of those bases code for the protein.

How a genome test reads SOX10

130

positions in SOX10 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 12.2 kb of SOX10, introns included, not only the 2.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SOX10 gene: SRY-box transcription factor 10. Retrieved 16 October 2026, from https://dantelabs.com/genes/sox10

Vancouver

Dante Labs. SOX10 gene: SRY-box transcription factor 10 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sox10

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