HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SFXN5
sideroflexin 5
Chromosome 2 · 2p13.2
NCBI Gene: 94097Ensembl: ENSG00000144040.13HGNC: HGNC:16073UniProt: B4DIJ8
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrioncitrate transportmitochondrial transmembrane transportexercise-induced hyperinsulinism3-hydroxy-3-methylglutaryl-CoA synthase deficiencyprostatitisdiabetes mellitus
✦AI Summary

SFXN5 (sideroflexin 5) is a mitochondrial transmembrane protein that functions as an amino acid and metabolite transporter, with specialized roles in metabolic regulation. The protein primarily transports citrate across mitochondrial membranes but does not transport serine 1. SFXN5 is predominantly expressed in the brain, with high expression levels detected across all analyzed brain regions 2. In brown adipose tissue, SFXN5 plays a regulatory role in UCP1-dependent thermogenesis, likely by supporting mitochondrial glycerol-3-phosphate utilization 3. The protein has been identified as a modulator of BAT thermogenesis and adiposity, with expression levels correlating with metabolic disease parameters 3. SFXN5 belongs to the evolutionary conserved sideroflexin family (SLC56), which exhibits functional specialization in mitochondrial metabolism and cellular homeostasis 1. Disease relevance includes potential involvement in medulloblastoma, where SFXN5 shows differential expression in certain tumor subtypes 4, and fatty liver disease, where it displays altered transcript usage patterns across species 5. The gene has also been studied as a candidate for Parkinson's disease, though mutations were not found to be pathogenic 2.

Sources cited
1
SFXN5 functions as mitochondrial citrate transporter but not serine transporter, and belongs to conserved SLC56 family
PMID: 40542427
2
SFXN5 is predominantly expressed in brain with high levels across all brain regions
PMID: 12039050
3
SFXN5 regulates UCP1-dependent thermogenesis in brown adipose tissue and modulates metabolic disease parameters
PMID: 36334589
4
SFXN5 shows differential expression in medulloblastoma subtypes
PMID: 37886818
5
SFXN5 displays altered transcript usage in fatty liver disease across species
PMID: 37859957
Disease Associationsⓘ20
exercise-induced hyperinsulinismOpen Targets
0.04Suggestive
3-hydroxy-3-methylglutaryl-CoA synthase deficiencyOpen Targets
0.04Suggestive
prostatitisOpen Targets
0.03Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
preeclampsiaOpen Targets
0.03Suggestive
ovarian dysfunctionOpen Targets
0.02Suggestive
medulloblastomaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
intelligenceOpen Targets
0.02Suggestive
large cell medulloblastomaOpen Targets
0.02Suggestive
attention deficit hyperactivity disorderOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
neurotic disorderOpen Targets
0.01Suggestive
primitive neuroectodermal tumorOpen Targets
0.01Suggestive
SepsisOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
anaphylaxisOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SFXN4Shared pathway75%SFXN2Shared pathway53%LASP1Shared pathway50%SFXN3Shared pathway50%PLP2Shared pathway33%TPTEShared pathway33%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
46%
Brain
42%
Lung
9%
Ovary
8%
Heart
7%
Gene Interaction Network
Click a node to explore
SFXN5SFXN4SFXN2LASP1SFXN3PLP2TPTE
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TD22
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.69–1.15]
RankingsWhere SFXN5 stands among ~20K protein-coding genes
  • #14,257of 20,598
    Most Researched20
  • #11,958of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedSFXN5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Architecture of the outbred brown fat proteome defines regulators of metabolic physiology.
PMID: 36334589
Cell · 2022
1.00
2
The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3.
PMID: 12039050
Gene · 2002
0.90
3
Update of the sideroflexin (SLC56) gene family.
PMID: 40542427
Hum Genomics · 2025
0.80
4
Malakoplakia with aberrant ALK expression by immunohistochemistry: a case report.
PMID: 37644531
Diagn Pathol · 2023
0.70
5
Comprehensive analysis of the role of SFXN family in breast cancer.
PMID: 37020524
Open Med (Wars) · 2023
0.60