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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SFXN3
sideroflexin 3
Chromosome 10 · 10q24.31
NCBI Gene: 81855Ensembl: ENSG00000107819.16HGNC: HGNC:16087UniProt: B4DRS6
78PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
one-carbon metabolic processserine import into mitochondrionmitochondrial transmembrane transportprotein bindingNeurodevelopmental disorderacute myeloid leukemiahyperinsulinism due to INSR deficiencyhyperinsulinism due to glucokinase deficiency
✦AI Summary

SFXN3 (sideroflexin 3) is a mitochondrial inner membrane protein that functions primarily as a serine transporter essential for one-carbon metabolism 1. SFXN3 facilitates the transport of serine into mitochondria, where it is converted to glycine and formate, providing one-carbon units required for nucleotide synthesis and other critical metabolic processes 1. The protein works cooperatively with SFXN1, as cells lacking both transporters show severe metabolic defects including glycine auxotrophy 1. Beyond its metabolic role, SFXN3 participates in mitochondrial iron homeostasis through interaction with the PCBP2-TOM20-SFXN3 axis, contributing to iron entry into mitochondria distinct from the MFRN1 pathway 2. SFXN3 also regulates synaptic morphology in an α-synuclein-dependent manner, suggesting involvement in neuronal function 3. Clinically, SFXN3 has emerged as a biomarker with elevated serum autoantibodies detected in oral squamous cell carcinoma patients with 77% sensitivity and 89% specificity 4. The protein is also associated with poor prognosis in head and neck squamous cell carcinoma and cervical cancer, where its expression correlates with immunosuppressive environments and chemoresistance 56. These findings establish SFXN3 as a multifunctional mitochondrial protein with roles in metabolism, iron homeostasis, neuronal function, and cancer progression.

Sources cited
1
SFXN3 functions as a mitochondrial serine transporter for one-carbon metabolism and works cooperatively with SFXN1
PMID: 30442778
2
SFXN3 participates in mitochondrial iron homeostasis through the PCBP2-TOM20-SFXN3 axis
PMID: 38599240
3
SFXN3 regulates synaptic morphology in an α-synuclein-dependent manner
PMID: 28049716
4
Serum anti-SFXN3 autoantibodies serve as tumor markers for oral squamous cell carcinoma with 77% sensitivity and 89% specificity
PMID: 21136855
5
SFXN3 expression is associated with poor prognosis and immunosuppressive microenvironment in head and neck squamous cell carcinoma
PMID: 36159813
6
SFXN3 is associated with cervical cancer prognosis and progression
PMID: 40466363
Disease Associationsⓘ20
Neurodevelopmental disorderOpen Targets
0.12Weak
acute myeloid leukemiaOpen Targets
0.09Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.07Suggestive
hyperinsulinism due to glucokinase deficiencyOpen Targets
0.06Suggestive
hyperproinsulinemiaOpen Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
exercise-induced hyperinsulinismOpen Targets
0.05Suggestive
diabetic ketoacidosisOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.04Suggestive
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyOpen Targets
0.04Suggestive
hyperinsulinemic hypoglycemia, familial, 1Open Targets
0.04Suggestive
hyperinsulinemic hypoglycemia, familial, 2Open Targets
0.04Suggestive
islet cell adenomatosisOpen Targets
0.04Suggestive
hyperinsulinism-hyperammonemia syndromeOpen Targets
0.03Suggestive
papillary thyroid carcinomaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
prostate adenocarcinomaOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.01Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SFXN1Shared pathway67%SFXN4Shared pathway60%SFXN2Shared pathway60%SFXN5Shared pathway50%LASP1Shared pathway40%ZACNShared pathway29%
Tissue Expression6 tissues
Lung
100%
Ovary
66%
Heart
60%
Bone Marrow
56%
Brain
44%
Liver
17%
Gene Interaction Network
Click a node to explore
SFXN3SFXN1SFXN4SFXN2SFXN5LASP1ZACN
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9BWM7
View on AlphaFold ↗
RankingsWhere SFXN3 stands among ~20K protein-coding genes
  • #6,108of 20,598
    Most Researched78
Genes detectedSFXN3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism.
PMID: 30442778
Science · 2018
1.00
2
Serum autoantibody to sideroflexin 3 as a novel tumor marker for oral squamous cell carcinoma.
PMID: 21136855
Proteomics Clin Appl · 2008
0.90
3
Association of poly(
PMID: 38599240
Free Radic Res · 2024
0.80
4
Significance of PFKFB4 and gene risk signature in cervical cancer prognosis and progression.
PMID: 40466363
Biochem Biophys Res Commun · 2025
0.70
5
Non-coding RNA-mediated high expression of
PMID: 36159813
Front Immunol · 2022
0.60