Gene
SOX9
SRY-box transcription factor 9
- HGNC 11204↗(opens in a new tab)
- Ensembl gene ENSG00000125398↗(opens in a new tab)
- NCBI Gene 6662↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q24.3
- Coordinates
- Chromosome 17: 72,121,020–72,126,416 (GRCh38)
- Exons
- 3 exons across 5.4 kb
- Protein
- 509 amino acids
- Also known as
- SRA1
- Previous symbols
- CMD1, CMPD1
- MANE Select transcript
- ENST00000245479.3NM_000346.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads SOX9 yet. The test sequences your whole genome, so your data includes it all the same.
How SOX9 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 3.9 kb of the gene's 5.4 kb; 1,530 of those bases code for the protein.
How a genome test reads SOX9
59
positions in SOX9 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 5.4 kb of SOX9, introns included, not only the 3.9 kb of exons.
Traits linked to SOX9
The Human Phenotype Ontology lists these as features of the rare conditions SOX9 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the genitourinary system
- Absent sperm in semen
- Hypospadias
- Infertility
- Non-obstructive azoospermia
- Sex reversal
- Abnormal internal genitalia
- Abnormal labia morphology
- Abnormal male internal genitalia morphology
Show 38 more traits
- Abnormal morphology of female internal genitalia
- Abnormal scrotal rugation
- Abnormal scrotum morphology
- Abnormal sex determination
- Abnormal vagina morphology
- Abnormality of the uterus
- Ambiguous external genitalia
- Cleft of scrotum
- Decreased fertility
- Decreased fertility in females
- Decreased testicular size
- Dysplastic testis
- Enlarged clitoris
- Female external genitalia in individual with 46,XY karyotype
- Gonadal dysgenesis
- Male infertility
- Male pseudohermaphroditism
- Ovotestis
- Polycystic ovaries
- Primary amenorrhea
- Short penis
- Smaller than typical growth of scrotum
- Streak ovary
- True hermaphroditism
- Underdeveloped penis
- Underdeveloped vagina
- Undescended testes
- Urogenital sinus anomaly
- Vanishing testis
- Gonadoblastoma
- Perineal hypospadias
- Hydronephrosis
- Ovarian gonadoblastoma
- Testicular gonadoblastoma
- Nephroblastoma
- Nephrotic syndrome
- Dysgerminoma
- Small uterus
Abnormality of head or neck
- Depressed nasal bridge
- Little lower jaw
- Midface retrusion
- Big calvaria
- Cleft palate
- Flat face
- Retraction of the tongue
- Short neck
Show 18 more traits
- Relatively large head
- Abnormality of the sense of smell
- Blockage of the rear opening of the nasal cavity
- Dental cavities
- Eye folds
- Frontal bossing
- High palate
- Irregular teeth
- Long philtrum
- Narrow mouth
- Recurrent colds
- Submucous cleft hard palate
- Flat nose
- High forehead
- Narrow opening between the eyelids
- Short opening between the eyelids
- Small face
- Wider-than-typical soft spot of skull
Abnormality of the musculoskeletal system
- Cervical spine instability
- Rounded neck
- 11 pairs of ribs
- Hypoplastic inferior ilia
- Narrow chest
- Osteoporosis
- Poorly ossified cervical vertebrae
- Recurrent fractures
Show 18 more traits
- Scoliosis
- Short long bone
- Small abnormally formed shoulder blade
- Kyphoscoliosis
- Small shoulder blade
- Delayed bone maturation
- Delayed maturation of end part of long bone
- Double-Jointed
- Hunched back
- Low muscle tone
- Narrow iliac wing
- Pigeon chest
- Thoracic scoliosis
- Absent bone maturation in sternum
- Hypoplastic cervical vertebrae
- Hypoplastic iliac wing
- Small chest
- Thin ribs
Abnormality of the nervous system
- Epilepsy
- Global developmental delay
- Hypoplasia of olfactory tract
- Mild global developmental delay
- Moderate global developmental delay
- Pauses in breathing while sleeping
- Spinal dysraphism
- Split spine
Show 2 more traits
External links
Gene records
Transcript
Protein
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.
- 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
Dante Labs. (n.d.). SOX9 gene: SRY-box transcription factor 9. Retrieved 17 October 2026, from https://dantelabs.com/genes/sox9
Dante Labs. SOX9 gene: SRY-box transcription factor 9 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sox9
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