Gene
EBF3
EBF transcription factor 3
- HGNC 19087↗(opens in a new tab)
- Ensembl gene ENSG00000108001↗(opens in a new tab)
- NCBI Gene 253738↗(opens in a new tab)
Summary
- Cytogenetic location
- 10q26.3
- Coordinates
- Chromosome 10: 129,835,233–129,964,274 (GRCh38)
- Exons
- 17 exons across 129 kb
- Protein
- 629 amino acids
- Also known as
- COE3, DKFZp667B0210
- MANE Select transcript
- ENST00000440978.2NM_001375380.1
- 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 EBF3 yet. The test sequences your whole genome, so your data includes it all the same.
How EBF3 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 5.1 kb of the gene's 129 kb; 1,890 of those bases code for the protein.
How a genome test reads EBF3
53
positions in EBF3 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 129 kb of EBF3, introns included, not only the 5.1 kb of exons.
Traits linked to EBF3
The Human Phenotype Ontology lists these as features of the rare conditions EBF3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Weakness of facial musculature
- Abnormal facial shape
- Broad chin
- Deep philtrum
- Downward slanting of the opening between the eyelids
- Enlarged cisterna magna
- Epicanthus inversus
- High forehead
Show 36 more traits
- Horizontal eyebrow
- Long face
- Nasal tip, upturned
- Oval face
- Prominent nasal bridge
- Short chin
- Thin red part of the upper lip
- Triangular face
- Wide nasal bridge
- Abnormally small head
- Broad forehead
- Broad nasal tip
- Cleft palate
- Downturned corners of mouth
- Eye folds
- Facial asymmetry
- Facial diplegia
- Full lower lip
- Full upper lip
- High palate
- Little lower jaw
- Long, narrow head
- Monobrow
- Myopathic facies
- Prominent forehead
- Prominent nose
- Smooth philtrum
- Thick eyebrow
- Upward slanting of the opening between the eyelids
- Broad head shape
- Deformity of the skull
- Frontal bossing
- Narrow forehead
- Prominent metopic ridge
- Short nose
- Widow's peak
Abnormality of the nervous system
- Wide based walk
- Delayed speech and language development
- Global developmental delay
- Intellectual disability
- Motor delay
- Specific learning disability
- Ataxia
- Behavioral abnormality
Show 26 more traits
- Cerebellar vermis hypoplasia
- Delayed fine motor development
- Inability to coordinate movements when walking
- Instability or lack of coordination of central trunk muscles
- Lack of coordination of movement
- Overactive lower leg reflex
- Pain insensitivity
- Poor speech
- Repetitive movements
- Speech apraxia
- Aggressive behavior
- Attention deficit
- Cavum septum pellucidum
- Clonus
- Degeneration of cerebellum
- Difficulty articulating speech
- Difficulty sleeping
- Epilepsy
- Inferior cerebellar vermis hypoplasia
- Lateral ventricle dilatation
- Poor fine motor coordination
- Small cerebellum
- Unsteady walk
- Anxiety
- Spina bifida occulta
- Delayed ability to walk
Abnormality of the ear
- Abnormality of the outer ear
- Ears rotated toward back of head
- Low-set ears
- Overfolded ears
- Congenital sensorineural hearing impairment
- Small earlobe
- Abnormal morphology of the vestibule of the inner ear
- Cochlear malformation
Show 1 more trait
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.). EBF3 gene: EBF transcription factor 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/ebf3
Dante Labs. EBF3 gene: EBF transcription factor 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ebf3
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