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Gene

SOX5

SRY-box transcription factor 5

Summary

Cytogenetic location
12p12.1
Coordinates
Chromosome 12: 23,529,504–23,949,670 (GRCh38)
Exons
15 exons across 420.2 kb
Protein
763 amino acids
Inheritance
Autosomal dominant
Also known as
L-SOX5, MGC35153
MANE Select transcript
ENST00000451604.7NM_006940.6
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

  • Lamb-Shaffer Syndrome

    • Autosomal dominant

      A disorder caused by loss of one working copy of SOX5, through a 12p12 deletion removing all or part of the gene or a sequence variant within it. Most cases arise de novo.

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

      Developmental, speech and educational support, with eye, spine and behavioural assessment; seizures, when they occur, usually respond well to treatment. Most cases arise de novo, but a parent can carry the change, sometimes in only some of their cells, so genetic counselling and parental testing guide recurrence risk even when a variant appears new.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How SOX5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where SOX5 sits. SOX5 and 0 genes near it on chromosome 12, from 23,109,337 to 24,369,837.Chromosome 1212p12.1p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3323.2 Mb23.4 Mb23.6 Mb23.8 Mb24 Mb24.2 MbSOX5: 23,529,504–23,949,670, reverse strandSOX5Diagram of SOX5: 15 exons on the reverse strand of chromosome 12Exon 14: 9 known disease-causing sitesExon 13: 12 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 3 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 15: 23,529,504–23,534,522, 5,019 basesExon 14: 23,536,453–23,536,669, 217 basesExon 13: 23,543,211–23,543,384, 174 basesExon 12: 23,546,316–23,546,424, 109 basesExon 11: 23,563,258–23,563,403, 146 basesExon 10: 23,575,661–23,575,838, 178 basesExon 9: 23,604,387–23,604,533, 147 basesExon 8: 23,640,812–23,640,897, 86 basesExon 7: 23,665,444–23,665,564, 121 basesExon 6: 23,734,684–23,734,752, 69 basesExon 5: 23,740,867–23,741,039, 173 basesExon 4: 23,755,638–23,755,724, 87 basesExon 3: 23,845,983–23,846,193, 211 basesExon 2: 23,895,793–23,896,024, 232 basesExon 1: 23,949,564–23,949,670, 107 bases1510515′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 7.1 kb of the gene's 420.2 kb; 2,292 of those bases code for the protein.

How a genome test reads SOX5

52

positions in SOX5 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 420.2 kb of SOX5, introns included, not only the 7.1 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.). SOX5 gene: SRY-box transcription factor 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/sox5

Vancouver

Dante Labs. SOX5 gene: SRY-box transcription factor 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sox5

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