Gene
FBXO28
F-box protein 28
- HGNC 29046↗(opens in a new tab)
- Ensembl gene ENSG00000143756↗(opens in a new tab)
- NCBI Gene 23219↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q42.11
- Coordinates
- Chromosome 1: 224,114,111–224,162,047 (GRCh38)
- Exons
- 5 exons across 47.9 kb
- Protein
- 368 amino acids
- Also known as
- FLJ10766, KIAA0483, Fbx28, CENP-30
- MANE Select transcript
- ENST00000366862.10NM_015176.4
- 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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Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- 4 GenCC submitters rate it definitive or strong
How FBXO28 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 5.4 kb of the gene's 47.9 kb; 1,107 of those bases code for the protein.
How a genome test reads FBXO28
2
positions in FBXO28 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 47.9 kb of FBXO28, introns included, not only the 5.4 kb of exons.
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- ABAT4-aminobutyrate aminotransferaseShares 1 condition
- ACTL6Bactin like 6BShares 1 condition
- ADAM22ADAM metallopeptidase domain 22Shares 1 condition
- ALDH7A1aldehyde dehydrogenase 7 family member A1Shares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- AP3B2adaptor related protein complex 3 subunit beta 2Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARV1ARV1 fatty acid homeostasis modulatorShares 1 condition
- ARXaristaless related homeoboxShares 1 condition
- ATP1A2ATPase Na+/K+ transporting subunit alpha 2Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
Traits linked to FBXO28
The Human Phenotype Ontology lists these as features of the rare conditions FBXO28 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Brain degeneration
- Central sleep apnea
- EEG with photoparoxysmal response
- Epilepsy
- Global developmental delay
- Intellectual disability
- Obstructive sleep apnea
- Typical absence seizure
Show 42 more traits
- Ventriculomegaly
- Encephalopathy
- Abnormality of coordination
- Absent reflexes
- Decreased reflex response
- Degeneration of cerebrum
- Delayed speech and language development
- EEG with multifocal slow activity
- Grand mal seizures
- Infantile spasms
- Jerking
- Loss of developmental milestones
- Tonic seizure
- Abnormal corpus callosum morphology
- Abnormal gait
- Abnormal myelination
- Ataxia
- Attention deficit
- Autism
- Behavioral abnormality
- Chorea
- Choreoathetosis
- Delayed CNS myelination
- Diminished deep tendon reflex
- Disorder of involuntary muscle movements
- Febrile seizure (within the age range of 3 months to 6 years)
- Fewer and broader ridges in brain
- Hypsarrhythmia
- Impulsivity
- Inability to coordinate movements when walking
- Involuntary movements
- Mental deterioration
- More grooves in brain
- Myoclonic seizure
- Myoclonic status epilepticus
- Reduced brain N-acetyl aspartate level by MRS
- Repetitive movements
- Seizure affecting one half of brain
- Thin corpus callosum
- Tremor
- Unsteady walk
- Repeated seizures without recovery between them
Abnormality of the eye
- Abnormal conjugate eye movement
- Cross-eyed
- Inward turning cross eyed
- Drooping upper eyelid
- Involuntary, rapid, rhythmic eye movements
- Abnormal involuntary eye movements
- Abnormality of vision
- Optic atrophy
Show 1 more trait
Abnormality of the musculoskeletal system
- Low muscle tone
- Scoliosis
- Thoracolumbar kyphosis
- Appendicular hypotonia
- Generalized decreased muscle tone
- Low muscle tone in trunk
- Involuntary muscle stiffness, contraction, or spasm
- Poor head control
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.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- 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.). FBXO28 gene: F-box protein 28. Retrieved 16 October 2026, from https://dantelabs.com/genes/fbxo28
Dante Labs. FBXO28 gene: F-box protein 28 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/fbxo28
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