Gene
SOX4
SRY-box transcription factor 4
- HGNC 11200↗(opens in a new tab)
- Ensembl gene ENSG00000124766↗(opens in a new tab)
- NCBI Gene 6659↗(opens in a new tab)
Summary
- Cytogenetic location
- 6p22.3
- Coordinates
- Chromosome 6: 21,593,751–21,598,619 (GRCh38)
- Exons
- 1 exon across 4.9 kb
- Protein
- 474 amino acids
- MANE Select transcript
- ENST00000244745.4NM_003107.3
- 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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How SOX4 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 4.9 kb of the gene's 4.9 kb; 1,425 of those bases code for the protein.
How a genome test reads SOX4
13
positions in SOX4 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 4.9 kb of SOX4, introns included, not only the 4.9 kb of exons.
Traits linked to SOX4
The Human Phenotype Ontology lists these as features of the rare conditions SOX4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Exaggerated cupid's bow
- Wide mouth
- Coarse facial features
- Full lower lip
- Prominent eyelashes
- Thick eyebrow
- Abnormal facial shape
- Abnormally small head
Show 18 more traits
- Broad nasal tip
- Broad philtrum
- Crease in skin under the eye
- Delayed eruption of teeth
- Depressed nasal bridge
- Eye folds
- Full lips
- Low frontal hairline
- Nasal tip, upturned
- Recurrent colds
- Short nose
- Sparse scalp hair
- Thick nasal alae
- Thin red part of the upper lip
- Wide nasal base
- Dandy-Walker malformation
- Delayed eruption of permanent teeth
- Triangular head shape
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.). SOX4 gene: SRY-box transcription factor 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/sox4
Dante Labs. SOX4 gene: SRY-box transcription factor 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sox4
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