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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC25A3
solute carrier family 25 member 3
Chromosome 12 Β· 12q23.1
NCBI Gene: 5250Ensembl: ENSG00000075415.16HGNC: HGNC:10989UniProt: A0A024RBE8
277PubMed Papers
21Diseases
0Drugs
12Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosomemembraneprotein-containing complex bindingmitochondrioncardiomyopathy-hypotonia-lactic acidosis syndromeCardiomyopathy - hypotonia - lactic acidosisneurodegenerative diseasemitochondrial disease
✦AI Summary

SLC25A3 encodes the mitochondrial phosphate carrier (PiC), a solute carrier protein localized to the mitochondrial inner membrane with dual transport functions. Primarily, SLC25A3 mediates proton-coupled symport of inorganic phosphate ions essential for mitochondrial oxidative phosphorylation and ATP synthesis 1. Additionally, SLC25A3 transports copper ions in anionic copper(I) complex forms to maintain mitochondrial copper homeostasis and support cytochrome c oxidase assembly 2. Beyond its canonical transport role, SLC25A3 regulates mitochondrial dynamics through copper-dependent control of flickering-induced Opa1 processing, a mechanism critical for mitochondrial safeguard against excessive fusion 3. SLC25A3 also negatively regulates NLRP3 inflammasome activation by interacting with NLRP3 and promoting its ubiquitination, thereby modulating innate immune responses 4. Clinically, SLC25A3 mutations cause mitochondrial phosphate carrier deficiency, presenting with lactic acidosis, cardiac hypertrophy, diastolic dysfunction, calcium homeostasis imbalance, and premature mortality 5. SLC25A3 expression patterns are altered in hepatocellular carcinoma and associated with poor prognosis 6, while dysregulation contributes to steroid-induced osteonecrosis through altered cuproptosis 7. The gene exhibits unusual alternative splicing patterns in vertebrates 8.

Sources cited
1
SLC25A3 mediates proton-coupled symport of phosphate ions for mitochondrial oxidative phosphorylation
PMID: 17273968
2
SLC25A3 transports copper ions to maintain mitochondrial matrix copper pool and support cytochrome c oxidase assembly
PMID: 29237729
3
SLC25A3-dependent copper transport controls flickering-induced Opa1 processing for mitochondrial safeguard
PMID: 38986607
4
SLC25A3 negatively regulates NLRP3 inflammasome activation by interacting with NLRP3 and promoting its ubiquitination
PMID: 38552738
5
SLC25A3 mutations cause mitochondrial phosphate carrier deficiency with lactic acidosis, cardiac hypertrophy, and diastolic dysfunction
PMID: 39671292
6
SLC25A3 expression is elevated in hepatocellular carcinoma and associated with poor survival
PMID: 36313717
7
SLC25A3 dysregulation contributes to steroid-induced osteonecrosis through altered cuproptosis
PMID: 40089548
8
SLC25A3 gene exhibits unusual alternative splicing patterns in vertebrates with duplicated exon 2 sequences
PMID: 29666342
Disease Associationsβ“˜21
cardiomyopathy-hypotonia-lactic acidosis syndromeOpen Targets
0.71Strong
Cardiomyopathy - hypotonia - lactic acidosisOpen Targets
0.70Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
mitochondrial diseaseOpen Targets
0.19Weak
neoplasmOpen Targets
0.11Weak
benign urinary system neoplasmOpen Targets
0.09Suggestive
placenta praeviaOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
autoimmune thrombocytopenic purpuraOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
myeloid sarcomaOpen Targets
0.06Suggestive
acute myeloid leukemiaOpen Targets
0.06Suggestive
systemic lupus erythematosusOpen Targets
0.05Suggestive
familial male-limited precocious pubertyOpen Targets
0.05Suggestive
obesityOpen Targets
0.05Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.05Suggestive
Testicular regression syndromeOpen Targets
0.05Suggestive
Mitochondrial phosphate carrier deficiencyUniProt
Pathogenic Variants12
NM_002635.4(SLC25A3):c.158-303A>GPathogenic
not provided|Cardiomyopathy-hypotonia-lactic acidosis syndrome
β˜…β˜…β˜†β˜†2026
NM_005888.4(SLC25A3):c.158-1_164delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_002635.4(SLC25A3):c.642-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_002635.4(SLC25A3):c.562C>T (p.Arg188Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 188
NM_002635.4(SLC25A3):c.5_14del (p.Phe2fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 2
NM_002635.4(SLC25A3):c.621_622del (p.Tyr207_Lys208delinsTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 207
NM_005888.4(SLC25A3):c.158-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_002635.4(SLC25A3):c.280-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_005888.4(SLC25A3):c.241dup (p.Thr81fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 81
NM_002635.4(SLC25A3):c.596T>G (p.Leu199Trp)Pathogenic
Cardiomyopathy-hypotonia-lactic acidosis syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 199
NM_002635.4(SLC25A3):c.883_895delinsCAGATAC (p.Gly295_Ser299delinsGlnIlePro)Pathogenic
Cardiomyopathy-hypotonia-lactic acidosis syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 295
NM_005888.4(SLC25A3):c.215G>A (p.Gly72Glu)Pathogenic
Cardiomyopathy-hypotonia-lactic acidosis syndrome
β˜†β˜†β˜†β˜†2007β†’ Residue 72
View on ClinVar β†—
Related Genes
RING1Protein interaction98%CBX1Protein interaction98%BMI1Protein interaction98%ATP5F1AProtein interaction98%COMMD3-BMI1Protein interaction97%UQCRFS1Protein interaction96%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
49%
Lung
42%
Liver
42%
Brain
42%
Ovary
34%
Gene Interaction Network
Click a node to explore
SLC25A3RING1CBX1BMI1ATP5F1ACOMMD3-BMI1UQCRFS1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q00325
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.53Moderately Constrained
pLIβ“˜
0.94Intolerant
Observed/Expected LoF0.33 [0.21–0.53]
RankingsWhere SLC25A3 stands among ~20K protein-coding genes
  • #1,314of 20,598
    Most Researched277 Β· top 10%
  • #2,647of 5,498
    Most Pathogenic Variants12
  • #3,336of 17,882
    Most Constrained (LOEUF)0.53 Β· top quartile
Genes detectedSLC25A3
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Autoregulatory control of mitochondrial glutathione homeostasis.
PMID: 37917749
Science Β· 2023
1.00
2
A novel protein CYTB-187AA encoded by the mitochondrial gene CYTB modulates mammalian early development.
PMID: 38703762
Cell Metab Β· 2024
0.90
3
Mitochondrial transplantation rescues Ca
PMID: 39671292
Cell Rep Β· 2024
0.80
4
SLC25A3 negatively regulates NLRP3 inflammasome activation by restricting the function of NLRP3.
PMID: 38552738
J Biol Chem Β· 2024
0.70
5
Rescue of the First Mitochondrial Membrane Carrier, the mPiC, by TAT-Mediated Protein Replacement Treatment.
PMID: 40362619
Int J Mol Sci Β· 2025
0.68