SFXN3: Sideroflexin 3 – Mitochondrial Serine Transporter
A comprehensive biomedical resource for SFXN3 gene, including genomic annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | SFXN3 |
|---|---|
| Full Name | Sideroflexin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.31 |
| NCBI Gene ID | 81855 ncbi.nlm.nih.gov/gene/81855 |
| Ensembl ID | ENSG00000107819 |
| UniProt ID | Q9BWM7 |
| OMIM ID | 615569 |
| HGNC ID | 16088 |
| Aliases | DKFZp564O1763, FLJ12895, MGC138290 |
Description
SFXN3 (Sideroflexin 3) is a member of the sideroflexin family of mitochondrial transporters. It functions as a serine transporter across the inner mitochondrial membrane, playing a critical role in one-carbon metabolism by supplying serine for mitochondrial folate-dependent pathways. SFXN3 is ubiquitously expressed and has been implicated in cellular proliferation and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered SFXN3 expression may affect mitochondrial serine metabolism, influencing tumor growth and proliferation. | COSMIC database reports somatic mutations in colorectal cancer samples. |
| Lung cancer | SFXN3 overexpression observed in lung adenocarcinoma; potential role in metabolic reprogramming. | NCBI Gene expression studies; COSMIC mutation data. |
| Breast cancer | SFXN3 copy number alterations and expression changes linked to breast cancer subtypes. | COSMIC; ClinVar variant entries. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Brain | 6.3 | Low |
| Lung | 11.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line; high expression |
| A549 | 13.8 | Lung cancer cell line; moderate expression |
| MCF7 | 9.2 | Breast cancer cell line; moderate expression |
| HEK293 | 7.5 | Embryonic kidney; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166His) | Missense | 0.02% (gnomAD) | Unknown; predicted benign by ClinVar |
| c.832C>T (p.Arg278Cys) | Missense | 0.01% (gnomAD) | Uncertain significance; reported in ClinVar |
| c.1030_1031insA (p.Thr344Asnfs*12) | Frameshift | <0.01% (COSMIC) | Loss of function; observed in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr344Asnfs*12) are predicted to truncate the protein, impairing mitochondrial serine transport.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SFXN3.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for SFXN3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• One-carbon metabolism (mitochondrial folate pathway)
• Serine biosynthesis and catabolism
Protein Summary
SFXN3 is a 322-amino acid mitochondrial inner membrane protein with multiple transmembrane domains. It belongs to the sideroflexin family and mediates the import of serine into the mitochondrial matrix, a key step in one-carbon unit generation for nucleotide synthesis and methylation. The protein is widely expressed and its dysregulation is associated with metabolic rewiring in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SFXN3 Knockout HEK293 Cell Line | EDJ-KQ9757 | Human | 81855 | Details Get a Quote |
| SFXN3 Knockout A-549 Cell Line | EDJ-KQ35363 | Human | 81855 | Details Get a Quote |
| SFXN3 Knockout HCT 116 Cell Line | EDJ-KQ36583 | Human | 81855 | Details Get a Quote |
| SFXN3 Knockout HeLa Cell Line | EDJ-KQ36584 | Human | 81855 | Details Get a Quote |
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