Gene
SIX6
SIX homeobox 6
- HGNC 10892↗(opens in a new tab)
- Ensembl gene ENSG00000184302↗(opens in a new tab)
- NCBI Gene 4990↗(opens in a new tab)
Summary
- Cytogenetic location
- 14q23.1
- Coordinates
- Chromosome 14: 60,509,146–60,512,850 (GRCh38)
- Exons
- 2 exons across 3.7 kb
- Protein
- 246 amino acids
- Also known as
- Six9
- Previous symbols
- OPTX2
- MANE Select transcript
- ENST00000327720.6NM_007374.3
- 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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No Genome Test report reads SIX6 yet. The test sequences your whole genome, so your data includes it all the same.
How SIX6 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 2.6 kb of the gene's 3.7 kb; 741 of those bases code for the protein.
How a genome test reads SIX6
2
positions in SIX6 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 3.7 kb of SIX6, introns included, not only the 2.6 kb of exons.
Traits linked to SIX6
The Human Phenotype Ontology lists these as features of the rare conditions SIX6 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Abnormally small eyeball
- Optic nerve aplasia
- Abnormal choroid morphology
- Absence of eyeballs
- Cross-eyed
- Glaucoma
- Severe farsightedness
- Corneal scarring
Show 14 more traits
- Enlarged eyeball
- Retinal detachment
- Abnormal retinal pigmentation
- Birth defect that causes a hole in the innermost layer at the back of the eye
- Cat eye
- Clouding of the lens of the eye
- Hardening of skin and connective tissue
- Notched pupil
- Breakdown of light-sensitive cells in back of eye
- Constricted pupils
- Horizontal nystagmus
- Involuntary, rapid, rhythmic eye movements
- Macular atrophy
- Optic nerve hypoplasia
Abnormality of the musculoskeletal system
- Butterfly vertebrae
- Extra ribs
- Generalized decreased muscle tone
- Low muscle tone
- Missing part of vertebrae
- Missing ribs
- Rib fusion
- Spastic diplegia
Show 3 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.). SIX6 gene: SIX homeobox 6. Retrieved 16 October 2026, from https://dantelabs.com/genes/six6
Dante Labs. SIX6 gene: SIX homeobox 6 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/six6
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