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Gene

SOX17

SRY-box transcription factor 17

Summary

Cytogenetic location
8q11.23
Coordinates
Chromosome 8: 54,457,935–54,460,892 (GRCh38)
Exons
2 exons across 3 kb
Protein
414 amino acids
MANE Select transcript
ENST00000297316.5NM_022454.4
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

  • Congenital Anomalies of the Kidney and Urinary Tract

    • Vesicoureteral Reflux

      Backward flow of urine from the bladder towards the kidneys, which can run in families and increases the risk of kidney infection and scarring.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing can prompt earlier evaluation of urinary infections in the person and their children.

How SOX17 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 8, with a bracket where SOX17 sits. SOX17 and 4 genes near it on chromosome 8, from 53,959,414 to 54,959,413.Chromosome 88q11.23p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.354 Mb54.2 Mb54.4 Mb54.6 Mb54.8 MbTCEA1: 53,966,552–54,022,508, reverse strandTCEA1LYPLA1: 54,046,367–54,102,035, reverse strandLYPLA1MRPL15: 54,135,183–54,149,588, forward strandMRPL15SOX17: 54,457,935–54,460,892, forward strandSOX17RP1: 54,509,422–54,871,720, forward strandRP1Diagram of SOX17: 2 exons on the forward strand of chromosome 8Exon 1: 2 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 1: 54,457,935–54,458,445, 511 basesExon 2: 54,459,058–54,460,892, 1,835 bases125′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 2.3 kb of the gene's 3 kb; 1,245 of those bases code for the protein.

How a genome test reads SOX17

4

positions in SOX17 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 3 kb of SOX17, introns included, not only the 2.3 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.). SOX17 gene: SRY-box transcription factor 17. Retrieved 16 October 2026, from https://dantelabs.com/genes/sox17

Vancouver

Dante Labs. SOX17 gene: SRY-box transcription factor 17 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sox17

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