Gene
FBXO38
F-box protein 38
- HGNC 28844↗(opens in a new tab)
- Ensembl gene ENSG00000145868↗(opens in a new tab)
- NCBI Gene 81545↗(opens in a new tab)
Summary
- Cytogenetic location
- 5q32
- Coordinates
- Chromosome 5: 148,383,958–148,442,836 (GRCh38)
- Exons
- 22 exons across 58.9 kb
- Protein
- 1,188 amino acids
- Also known as
- MOKA, SP329, FLJ13962, Fbx38
- MANE Select transcript
- ENST00000340253.10NM_205836.3
- 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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Get my Genome TestCurated reports relevant to this gene
Charcot-Marie-Tooth Disease
- Distal Hereditary Motor Neuropathy
Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.
- ClinGen rates the link moderate
- 1 GenCC submitter rates it definitive or strong
Spinal Muscular Atrophy
A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care
How FBXO38 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 4.4 kb of the gene's 58.9 kb; 3,567 of those bases code for the protein.
How a genome test reads FBXO38
2
positions in FBXO38 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 58.9 kb of FBXO38, introns included, not only the 4.4 kb of exons.
Genes linked to the same conditions
- ATP7AATPase copper transporting alphaShares 2 conditions
- BSCL2BSCL2 lipid droplet biogenesis associated, seipinShares 2 conditions
- DCTN1dynactin subunit 1Shares 2 conditions
- DNAJB2DnaJ heat shock protein family (Hsp40) member B2Shares 2 conditions
- DYNC1H1dynein cytoplasmic 1 heavy chain 1Shares 2 conditions
- EMILIN1elastin microfibril interfacer 1Shares 2 conditions
- GARS1glycyl-tRNA synthetase 1Shares 2 conditions
- HSPB8heat shock protein family B (small) member 8Shares 2 conditions
- IGHMBP2immunoglobulin mu DNA binding protein 2Shares 2 conditions
- PLEKHG5pleckstrin homology and RhoGEF domain containing G5Shares 2 conditions
- REEP1receptor accessory protein 1Shares 2 conditions
- SIGMAR1sigma receptor chaperone 1Shares 2 conditions
Traits linked to FBXO38
The Human Phenotype Ontology lists these as features of the rare conditions FBXO38 can cause. Each trait's page lists the other genes linked to it.
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.). FBXO38 gene: F-box protein 38. Retrieved 17 October 2026, from https://dantelabs.com/genes/fbxo38
Dante Labs. FBXO38 gene: F-box protein 38 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fbxo38
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