Gene
SATB1
SATB homeobox 1
- HGNC 10541↗(opens in a new tab)
- Ensembl gene ENSG00000182568↗(opens in a new tab)
- NCBI Gene 6304↗(opens in a new tab)
Summary
- Cytogenetic location
- 3p24.3
- Coordinates
- Chromosome 3: 18,345,377–18,425,339 (GRCh38)
- Exons
- 11 exons across 80 kb
- Protein
- 763 amino acids
- MANE Select transcript
- ENST00000338745.11NM_002971.6
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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No Genome Test report reads SATB1 yet. The test sequences your whole genome, so your data includes it all the same.
How SATB1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 7.8 kb of the gene's 80 kb; 2,292 of those bases code for the protein.
Sequencing SATB1
21
positions in SATB1 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 80 kb of SATB1, introns included, not only the 7.8 kb of exons.
Traits linked to SATB1
The Human Phenotype Ontology lists these as features of the rare conditions SATB1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Delayed speech and language development
- Global developmental delay
- Intellectual disability
- Motor delay
- Behavioral abnormality
- Difficulty articulating speech
- Difficulty sleeping
Show 30 more traits
- EEG abnormality
- Epilepsy
- Agitation
- Ataxia
- Autism
- Brief seizures with staring spells
- Delayed ability to sit
- Delayed ability to walk
- Developmental stagnation at onset of seizures
- Difficulty staying asleep
- EEG with focal spike waves
- Focal myoclonic seizure
- Generalized brain degeneration
- Generalized clonic seizure
- Generalized tonic seizure
- Hypsarrhythmia
- Inability to walk
- Intellectual disability, severe
- Jerking
- Lateral ventricle dilatation
- Loss of developmental milestones
- Multifocal epileptiform discharges
- Nocturnal seizures
- Repeated seizures without recovery between them
- Repetitive movements
- Seizure affecting one half of brain
- Short attention span
- Stereotypical hand wringing
- Tremor
- Ventriculomegaly
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.). SATB1 gene: SATB homeobox 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/satb1
Dante Labs. SATB1 gene: SATB homeobox 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/satb1
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