FBXO38 Gene - F-Box Protein 38: Function, Disease Associations, and Clinical Significance
Comprehensive resource on the FBXO38 gene, including genomic information, protein function, associated diseases, expression patterns, and mutation data from authoritative databases.
Gene Information Card
| Symbol | FBXO38 |
|---|---|
| Full Name | F-box protein 38 |
| Gene Type | protein coding |
| Chromosomal Location | 5q32 |
| NCBI Gene ID | 81545 ncbi.nlm.nih.gov/gene/81545 |
| Ensembl ID | ENSG00000145888 |
| UniProt ID | Q6PJ36 |
| OMIM ID | 608702 |
| HGNC ID | 28944 |
| Aliases | Fbx38, KIAA1305 |
Description
FBXO38 (F-box protein 38) is a protein-coding gene located on chromosome 5q32. It encodes a member of the F-box protein family, which are components of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex. This complex is involved in substrate recognition and ubiquitination, targeting proteins for proteasomal degradation. FBXO38 is implicated in various cellular processes including cell cycle regulation, immune response, and DNA repair. Mutations in FBXO38 are associated with specific clinical conditions, and its expression is altered in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal Recessive Distal Spinal Muscular Atrophy 2 (DSMA2) | Loss-of-function mutations in FBXO38 lead to impaired ubiquitination and degradation of its substrate, likely affecting motor neuron survival and function. | OMIM #608702; ClinVar |
| Potential role in cancer | Altered expression and potential mutations may affect cell cycle regulation and apoptosis, contributing to tumorigenesis in certain tissues. | COSMIC; PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.1 | Medium |
| Brain | 8.5 | Low |
| Muscle | 7.9 | Low |
| Lung | 6.2 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.3 | High expression in leukemia cell line |
| HeLa | 10.2 | Moderate expression in cervical cancer cell line |
| A549 | 8.1 | Moderate expression in lung carcinoma cell line |
| MCF7 | 6.5 | Low expression in breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1102C>T (p.Arg368Ter) | Nonsense | Rare | Premature stop codon leading to truncated protein and loss of function. Associated with DSMA2. |
| c.1285G>A (p.Gly429Arg) | Missense | Rare | Amino acid substitution potentially affecting protein stability or substrate binding. Reported in DSMA2. |
| c.1546A>G (p.Thr516Ala) | Missense | Rare | Substitution in a conserved region; clinical significance uncertain. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature termination codons are classified as loss-of-function, resulting in a truncated or absent protein. These are the primary cause of DSMA2.
Gain of Function (GOF)
No evidence for gain-of-function mutations in FBXO38 has been reported in the literature or curated databases.
Dominant Negative (DN)
No evidence for dominant-negative mutations in FBXO38 has been reported. The inheritance pattern for DSMA2 is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein binding |
| • ubiquitin-dependent protein catabolic process | • SCF-dependent proteasomal ubiquitin-dependent protein catabolic process |
| • cell cycle | • nucleus |
| • cytoplasm |
Pathways
• SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
• Cell Cycle
• Mitotic
• Ubiquitin mediated proteolysis
Protein Summary
The FBXO38 protein is a 621-amino acid F-box protein that serves as the substrate recognition component of the SCF E3 ubiquitin ligase complex. It contains an N-terminal F-box domain that binds to SKP1, and a C-terminal domain that interacts with specific substrates. Through ubiquitination, FBXO38 targets proteins for degradation by the 26S proteasome, thereby regulating various cellular processes. Its specific substrates are still being identified, but it is known to play a role in the DNA damage response and in the regulation of the transcription factor c-Myc.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBXO38 Knockout HEK293 Cell Line | EDJ-KQ9706 | Human | 81545 | Details Get a Quote |
| FBXO38 Knockout A-549 Cell Line | EDJ-KQ36485 | Human | 81545 | Details Get a Quote |
| FBXO38 Knockout HCT 116 Cell Line | EDJ-KQ36486 | Human | 81545 | Details Get a Quote |
| FBXO38 Knockout HeLa Cell Line | EDJ-KQ36487 | Human | 81545 | Details Get a Quote |
