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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC25A21
solute carrier family 25 member 21
Chromosome 14 · 14q13.3
NCBI Gene: 89874Ensembl: ENSG00000183032.12HGNC: HGNC:14411UniProt: Q9BQT8
31PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial alpha-ketoglutarate transmembrane transportalpha-ketoglutarate transmembrane transporter activitymitochondrionmitochondrial inner membranemitochondrial DNA depletion syndrome 18vertebral disordervertebral column disorderParalysis
✦AI Summary

SLC25A21 is a mitochondrial inner membrane transporter that mediates counter-exchange of dicarboxylates across the mitochondrial membrane 1. It transports 2-oxoadipate, 2-oxoglutarate, adipate, glutarate, and related metabolites, playing a central role in the catabolism of lysine, hydroxylysine, and tryptophan by facilitating entry of metabolic intermediates into the mitochondria for conversion to acetyl-CoA and citric acid cycle entry 1. SLC25A21 expression is associated with maintaining mitochondrial metabolic homeostasis, including oxidative phosphorylation and biogenesis 2. Beyond basic metabolism, SLC25A21 functions as a tumor suppressor: its downregulation in KRAS-mutant colorectal cancer promotes progression by disrupting α-ketoglutarate efflux and enhancing glutamine anaplerosis 3, while its overexpression in acute myeloid leukemia inhibits cell proliferation and promotes mitochondrial apoptosis 4. In acute kidney injury, reduced SLC25A21 expression impairs mitochondrial function and increases cellular death 2. Germline SLC25A21 mutations are associated with mitochondrial DNA depletion syndrome 18, though complete knockout mice are phenotypically normal, suggesting potential compensation mechanisms 5. SLC25A21 emerges as a prognostic biomarker and potential therapeutic target across multiple disease contexts.

Sources cited
1
SLC25A21 is a mitochondrial dicarboxylate transporter functioning by counter-exchange mechanism with substrate specificity
PMID: 11083877
2
SLC25A21 maintains mitochondrial metabolic homeostasis, oxidative phosphorylation, and biogenesis in kidney tubular cells
PMID: 39695098
3
SLC25A21 acts as a tumor suppressor in KRAS-mutant colorectal cancer by regulating α-ketoglutarate efflux
PMID: 37937641
4
SLC25A21 overexpression inhibits acute myeloid leukemia cell proliferation through mitochondrial apoptosis signaling
PMID: 39706835
5
SLC25A21 disruption in mice shows phenotypic effects; complete knockout mice are phenotypically normal
PMID: 24642684
Disease Associationsⓘ21
mitochondrial DNA depletion syndrome 18Open Targets
0.50Moderate
vertebral disorderOpen Targets
0.36Weak
vertebral column disorderOpen Targets
0.36Weak
ParalysisOpen Targets
0.32Weak
Back painOpen Targets
0.32Weak
lobe attachmentOpen Targets
0.30Weak
vertebral joint diseaseOpen Targets
0.29Weak
spinal stenosisOpen Targets
0.28Weak
benign soft tissue neoplasmOpen Targets
0.27Weak
Umbilical herniaOpen Targets
0.26Weak
brain compressionOpen Targets
0.26Weak
femoral neck fractureOpen Targets
0.25Weak
ovarian dysfunctionOpen Targets
0.25Weak
hemolytic anemiaOpen Targets
0.24Weak
type 1 diabetes mellitusOpen Targets
0.24Weak
tooth diseaseOpen Targets
0.23Weak
metabolic diseaseOpen Targets
0.23Weak
edemaOpen Targets
0.23Weak
joint diseaseOpen Targets
0.23Weak
ovarian neoplasmOpen Targets
0.21Weak
Mitochondrial DNA depletion syndrome 18UniProt
Pathogenic Variants1
NM_030631.4(SLC25A21):c.695A>G (p.Lys232Arg)Pathogenic
Mitochondrial DNA depletion syndrome 18
☆☆☆☆2023→ Residue 232
View on ClinVar ↗
Related Genes
AASSShared pathway100%PIPOXShared pathway100%HYKKShared pathway100%DNASE1L2Protein interaction81%TBX20Protein interaction81%MIPOL1Protein interaction79%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
11%
Ovary
9%
Brain
7%
Lung
4%
Liver
3%
Gene Interaction Network
Click a node to explore
SLC25A21AASSPIPOXHYKKDNASE1L2TBX20MIPOL1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BQT8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.55LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.13 [0.84–1.55]
RankingsWhere SLC25A21 stands among ~20K protein-coding genes
  • #11,801of 20,598
    Most Researched31
  • #5,259of 5,498
    Most Pathogenic Variants1
  • #15,432of 17,882
    Most Constrained (LOEUF)1.55
Genes detectedSLC25A21
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
1.00
2
Imaging Intron Evolution.
PMID: 35893579
Methods Protoc · 2022
0.90
3
SLC25A21 correlates with the prognosis of adult acute myeloid leukemia through inhibiting the growth of leukemia cells via downregulating CXCL8.
PMID: 39706835
Cell Death Dis · 2024
0.80
4
Slc25a21 in cisplatin-induced acute kidney injury: a new target for renal tubular epithelial protection by regulating mitochondrial metabolic homeostasis.
PMID: 39695098
Cell Death Dis · 2024
0.70
5
Dual targeting of polyamine synthesis and uptake in diffuse intrinsic pontine gliomas.
PMID: 33579942
Nat Commun · 2021
0.60