SLC25A10

Summary

SLC25A10 (solute carrier family 25 member 10, HGNC:10980) is a protein-coding gene on chromosome 17q25.3, encoding Mitochondrial dicarboxylate carrier (Q9UBX3). Catalyzes the electroneutral exchange or flux of physiologically important metabolites such as dicarboxylates (malonate, malate, succinate), inorganic sulfur-containing anions, and phosphate, across the mitochondrial inner membrane. It is a selective cancer dependency (DepMap: 13.7% of cell lines).

This gene encodes a member of a family of proteins that translocate small metabolites across the mitochondrial membrane. The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby providing substrates for metabolic processes including the Krebs cycle and fatty acid synthesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 1468 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial DNA depletion syndrome 19 (Moderate, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 98 total — 3 likely-pathogenic
• Phenotypes (HPO): 17
• Cancer dependency (DepMap): dependent in 13.7% of screened cell lines
• MANE Select transcript: NM_012140

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10980
Approved symbol	SLC25A10
Name	solute carrier family 25 member 10
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000183048
Ensembl biotype	protein_coding
OMIM	606794
Entrez	1468

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 15 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000331531, ENST00000350690, ENST00000545862, ENST00000570310, ENST00000571876, ENST00000573246, ENST00000574129, ENST00000574884, ENST00000863922, ENST00000863923, ENST00000863924, ENST00000863925, ENST00000863926, ENST00000863927, ENST00000863928, ENST00000863929, ENST00000863930, ENST00000863931, ENST00000863932, ENST00000919831

RefSeq mRNA: 3 — MANE Select: NM_012140 NM_001270888, NM_001270953, NM_012140

CCDS: CCDS11786, CCDS59301, CCDS74176

Canonical transcript exons

ENST00000350690 — 11 exons

Exon	Start	End
ENSE00001301201	81719976	81721012
ENSE00001742897	81712284	81712519
ENSE00003489080	81717399	81717491
ENSE00003524151	81715693	81715741
ENSE00003592746	81715478	81715592
ENSE00003601828	81716812	81716855
ENSE00003606978	81717002	81717072
ENSE00003658839	81716009	81716050
ENSE00003730265	81719831	81719887
ENSE00003738025	81714953	81715072
ENSE00003746658	81717784	81717861

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 96.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3971 / max 81.2498, expressed in 1561 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
163358	6.5424	1521
163359	2.7151	845
163360	0.0956	43
163357	0.0440	18

Top tissues by expression

133 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	96.76	gold quality
mucosa of transverse colon	UBERON:0004991	96.34	gold quality
liver	UBERON:0002107	94.96	gold quality
right uterine tube	UBERON:0001302	93.33	gold quality
adult mammalian kidney	UBERON:0000082	92.49	gold quality
duodenum	UBERON:0002114	90.43	gold quality
esophagus mucosa	UBERON:0002469	90.30	gold quality
body of pancreas	UBERON:0001150	90.28	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.52	gold quality
left testis	UBERON:0004533	89.50	gold quality
saliva-secreting gland	UBERON:0001044	89.16	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.99	gold quality
testis	UBERON:0000473	88.95	gold quality
right testis	UBERON:0004534	88.89	gold quality
minor salivary gland	UBERON:0001830	88.86	gold quality
cortex of kidney	UBERON:0001225	88.82	gold quality
kidney	UBERON:0002113	88.14	gold quality
transverse colon	UBERON:0001157	88.12	gold quality
metanephros cortex	UBERON:0010533	87.50	gold quality
lower esophagus mucosa	UBERON:0035834	86.80	gold quality
body of stomach	UBERON:0001161	86.71	gold quality
tibial nerve	UBERON:0001323	86.13	gold quality
right adrenal gland cortex	UBERON:0035827	85.01	gold quality
small intestine Peyer’s patch	UBERON:0003454	84.92	gold quality
skin of abdomen	UBERON:0001416	84.60	gold quality
small intestine	UBERON:0002108	84.55	gold quality
pancreas	UBERON:0001264	84.51	gold quality
zone of skin	UBERON:0000014	84.28	gold quality
skin of leg	UBERON:0001511	84.28	gold quality
apex of heart	UBERON:0002098	84.19	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-75367	yes	94.81
E-ANND-3	yes	8.18
E-MTAB-9689	no	159.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting SLC25A10, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-1301-3P	98.64	68.27	1071
HSA-MIR-5047	98.64	68.62	1035
HSA-MIR-6754-5P	98.60	65.54	1627
HSA-MIR-6887-5P	98.56	68.49	1295
HSA-MIR-6795-5P	98.52	68.51	1277
HSA-MIR-4726-3P	98.49	63.89	1385
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-138-5P	98.43	70.49	1292
HSA-MIR-7113-5P	97.88	67.33	1735
HSA-MIR-370-3P	97.09	64.92	1221
HSA-MIR-874-5P	96.93	63.92	1014

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 13.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 9)

• Slc25a10 plays an important role in supplying malate for citrate transport required for fatty acid synthesis and its inhibition might effectively reduce lipid accumulation in adipose tissues (PMID:16027120)
• SLC25A10 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells. (PMID:21555518)
• Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
• the SLC25A10 carrier plays an important role in regulating redox homeostasis to protect confluent cells against oxidative stress. (PMID:25797253)
• study identifies novel genes associated with insulin sensitivity in adipocytes in women independently of obesity. KFL15 and SLC25A10 are inhibitors of insulin-stimulated lipogenesis under conditions when glucose transport is the rate limiting step (PMID:28570579)
• Study report the first recessive mutations of SLC25A10 associated to an inherited severe mitochondrial neurodegenerative disorder. We propose that SLC25A10 loss-of-function causes pathological disarrangements in respiratory-demanding conditions and oxidative stress vulnerability. (PMID:29211846)
• Data show that targeting of mitochondrial dicarboxylate carrier (SLC25A10) was effective in overcoming chronic-cycling hypoxia-induced enhanced death resistance in vitro and in vivo by disturbing increased antioxidant capacity. (PMID:30205167)
• identified a new protein-protein interaction mechanism in which CLOCK can directly regulate cell metabolism via the mitochondrial membrane transporter SLC25A10. (PMID:30943427)
• The role of PYCR1 in inhibiting 5-fluorouracil-induced ferroptosis and apoptosis through SLC25A10 in colorectal cancer. (PMID:36104652)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc25a10b	ENSDARG00000025074
danio_rerio	slc25a10a	ENSDARG00000097890
mus_musculus	Slc25a10	ENSMUSG00000025792
rattus_norvegicus	Slc25a10	ENSRNOG00000036693
drosophila_melanogaster	Dic1	FBGN0027610
drosophila_melanogaster	Dic3	FBGN0033248
drosophila_melanogaster	Dic2	FBGN0038797
caenorhabditis_elegans		WBGENE00019656

Paralogs (49): SLC25A13 (ENSG00000004864), SLC25A5 (ENSG00000005022), SLC25A39 (ENSG00000013306), SLC25A40 (ENSG00000075303), SLC25A3 (ENSG00000075415), SLC25A43 (ENSG00000077713), SLC25A24 (ENSG00000085491), SLC25A1 (ENSG00000100075), SLC25A17 (ENSG00000100372), SLC25A14 (ENSG00000102078), SLC25A15 (ENSG00000102743), SLC25A11 (ENSG00000108528), UCP1 (ENSG00000109424), SLC25A36 (ENSG00000114120), SLC25A12 (ENSG00000115840), SLC25A2 (ENSG00000120329), SLC25A51 (ENSG00000122696), SLC25A16 (ENSG00000122912), SLC25A35 (ENSG00000125434), SLC25A19 (ENSG00000125454), SLC25A23 (ENSG00000125648), SLC25A47 (ENSG00000140107), SLC25A52 (ENSG00000141437), SLC25A38 (ENSG00000144659), SLC25A26 (ENSG00000144741), SLC25A48 (ENSG00000145832), SLC25A37 (ENSG00000147454), SLC25A25 (ENSG00000148339), SLC25A31 (ENSG00000151475), SLC25A4 (ENSG00000151729), SLC25A27 (ENSG00000153291), SLC25A28 (ENSG00000155287), SLC25A44 (ENSG00000160785), SLC25A45 (ENSG00000162241), SLC25A34 (ENSG00000162461), SLC25A32 (ENSG00000164933), SLC25A6 (ENSG00000169100), SLC25A33 (ENSG00000171612), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564)

Protein

Protein identifiers

Mitochondrial dicarboxylate carrier — Q9UBX3 (reviewed: Q9UBX3)

Alternative names: Solute carrier family 25 member 10

All UniProt accessions (6): Q9UBX3, A0A0S2Z382, A0A0S2Z3G3, F6RGN5, I3L1E8, I3L3N9

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the electroneutral exchange or flux of physiologically important metabolites such as dicarboxylates (malonate, malate, succinate), inorganic sulfur-containing anions, and phosphate, across the mitochondrial inner membrane. Substrate exchange across the membrane occurs consecutively with one substrate being transported first, then dissociating from the substrate binding site before the second substrate binds for transport in the opposite direction. Does not transport glutathione. Plays an important role in gluconeogenesis, fatty acid metabolism, urea synthesis, and sulfur metabolism, particularly in liver, by supplying the substrates for the different metabolic processes. Regulates fatty acid release from adipocytes, and contributes to systemic insulin sensitivity.

Subunit / interactions. Monomer.

Subcellular location. Mitochondrion inner membrane.

Tissue specificity. Present in high amounts in liver and kidney, and at lower levels in all the other tissues analyzed.

Disease relevance. Mitochondrial DNA depletion syndrome 19 (MTDPS19) [MIM:618972] An autosomal recessive mitochondrial disorder characterized by progressive and severe epileptic encephalopathy, hypotonia, poor spontaneous movements evolving to spastic quadriparesis and dyskinesias, and respiratory complex I deficiency and mitochondrial DNA depletion in skeletal muscle. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the mitochondrial carrier (TC 2.A.29) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UBX3-1	1	yes
Q9UBX3-2	2

RefSeq proteins (3): NP_001257817, NP_001257882, NP_036272* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002067	MCP	Family
IPR018108	MCP_transmembrane	Repeat
IPR023395	MCP_dom_sf	Homologous_superfamily
IPR050391	Mito_Metabolite_Transporter	Family

Pfam: PF00153

Catalyzed reactions (Rhea), 11 shown:

• (S)-malate(in) + succinate(out) = (S)-malate(out) + succinate(in) (RHEA:29327)
• (S)-malate(in) + phosphate(out) = (S)-malate(out) + phosphate(in) (RHEA:71607)
• malonate(out) + (S)-malate(in) = malonate(in) + (S)-malate(out) (RHEA:71611)
• (S)-malate(in) + sulfate(out) = (S)-malate(out) + sulfate(in) (RHEA:71615)
• malonate(out) + phosphate(in) = malonate(in) + phosphate(out) (RHEA:71623)
• succinate(out) + phosphate(in) = succinate(in) + phosphate(out) (RHEA:71627)
• sulfate(out) + phosphate(in) = sulfate(in) + phosphate(out) (RHEA:71631)
• malonate(out) + succinate(in) = malonate(in) + succinate(out) (RHEA:71667)
• malonate(in) + sulfate(out) = malonate(out) + sulfate(in) (RHEA:73195)
• thiosulfate(in) + sulfate(out) = thiosulfate(out) + sulfate(in) (RHEA:73215)
• sulfate(out) + succinate(in) = sulfate(in) + succinate(out) (RHEA:73411)

UniProt features (13 total): transmembrane region 6, repeat 3, chain 1, splice variant 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBX3-F1	77.53	0.04

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1614517	Sulfide oxidation to sulfate
R-HSA-428643	Organic anion transport by SLC5/17/25 transporters

MSigDB gene sets: 228 (showing top): GCANCTGNY_MYOD_Q6, GNF2_HPN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_ORGANIC_ACID_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, MARTINEZ_RB1_TARGETS_UP, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, GOBP_MONOSACCHARIDE_BIOSYNTHETIC_PROCESS

GO Biological Process (14): gluconeogenesis (GO:0006094), monoatomic ion transport (GO:0006811), dicarboxylic acid transport (GO:0006835), lipid transport (GO:0006869), thiosulfate transport (GO:0015709), oxaloacetate transport (GO:0015729), phosphate ion transmembrane transport (GO:0035435), glyceraldehyde-3-phosphate biosynthetic process (GO:0046166), obsolete sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221), succinate transmembrane transport (GO:0071422), malate transmembrane transport (GO:0071423), sulfate transmembrane transport (GO:1902358), transmembrane transport (GO:0055085), oxaloacetate(2-) transmembrane transport (GO:1902356)

GO Molecular Function (9): dicarboxylic acid transmembrane transporter activity (GO:0005310), sulfate transmembrane transporter activity (GO:0015116), thiosulfate transmembrane transporter activity (GO:0015117), oxaloacetate transmembrane transporter activity (GO:0015131), malate transmembrane transporter activity (GO:0015140), succinate transmembrane transporter activity (GO:0015141), antiporter activity (GO:0015297), protein binding (GO:0005515), secondary active transmembrane transporter activity (GO:0015291)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Degradation of cysteine and homocysteine	1
SLC-mediated transport of organic anions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	3
carboxylic acid transmembrane transport	3
C4-dicarboxylate transmembrane transporter activity	3
inorganic anion transport	2
sulfur compound transport	2
transmembrane transport	2
sulfur compound transmembrane transporter activity	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
glucose metabolic process	1
hexose biosynthetic process	1
carboxylic acid transport	1
lipid localization	1
C4-dicarboxylate transport	1
phosphate ion transport	1
glyceraldehyde-3-phosphate metabolic process	1
aldehyde biosynthetic process	1
organophosphate biosynthetic process	1
carbohydrate derivative biosynthetic process	1
succinate transport	1
malate transport	1
cellular process	1
oxaloacetate transport	1
dicarboxylic acid transport	1
carboxylic acid transmembrane transporter activity	1
sulfate transmembrane transport	1
thiosulfate transport	1
oxaloacetate(2-) transmembrane transport	1
malate transmembrane transport	1
succinate transmembrane transport	1
secondary active transmembrane transporter activity	1
binding	1
active transmembrane transporter activity	1
nuclear lumen	1
cytoplasm	1
organelle inner membrane	1
mitochondrial membrane	1

Protein interactions and networks

STRING

1008 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC25A10	MTCH1	Q9NZJ7	872
SLC25A10	MTCH2	Q9Y6C9	799
SLC25A10	SLC25A3	Q00325	553
SLC25A10	SLC25A20	O43772	517
SLC25A10	SLC25A15	Q9Y619	468
SLC25A10	SLC25A4	P12235	461
SLC25A10	LHPP	Q9H008	439
SLC25A10	SLC25A21	Q9BQT8	435
SLC25A10	SLC25A2	Q9BXI2	405
SLC25A10	SOCS2	O14508	398
SLC25A10	BCS1L	Q9Y276	381
SLC25A10	SLC25A39	Q9BZJ4	380
SLC25A10	SLC13A3	Q8WWT9	379
SLC25A10	SLC25A1	P53007	378
SLC25A10	SLC25A43	Q8WUT9	377

IntAct

141 interactions, top by confidence:

A	B	Type	Score
MAP3K14	CHUK	psi-mi:“MI:0914”(association)	0.950
MDFI	SLC25A10	psi-mi:“MI:0915”(physical association)	0.820
SLC25A10	MDFI	psi-mi:“MI:0915”(physical association)	0.820
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
HSPD1	NUDT19	psi-mi:“MI:0914”(association)	0.710
SLC25A10	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.670
RAF1	CALU	psi-mi:“MI:0914”(association)	0.640
RUVBL1	POLR3A	psi-mi:“MI:0914”(association)	0.640
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
CANX	PGRMC1	psi-mi:“MI:0914”(association)	0.570
KRTAP5-9	SLC25A10	psi-mi:“MI:0915”(physical association)	0.560
SLC25A10	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (245): SLC25A10 (Affinity Capture-MS), KRTAP5-9 (Two-hybrid), MDFI (Two-hybrid), KRTAP4-2 (Two-hybrid), KRT40 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), SLC25A10 (Affinity Capture-RNA), SLC25A10 (Affinity Capture-RNA), SLC25A10 (Affinity Capture-MS), SLC25A10 (Affinity Capture-MS), SLC25A10 (Affinity Capture-MS), SLC25A10 (Affinity Capture-MS), SLC25A10 (Affinity Capture-MS)

ESM2 similar proteins: A0A324, B0BM39, B3VSC2, F6RQL9, O14817, O42602, O43688, O62772, O75954, O89035, P10063, P23576, P26048, P27681, P28473, P34998, P35347, P35353, P47869, P56880, Q05B83, Q06AA5, Q0VC00, Q13126, Q3SYV5, Q4L208, Q5R6I6, Q5RAP3, Q5RCC5, Q5ZJ75, Q6DCQ3, Q6GMK6, Q76LL8, Q86UF1, Q8BJU2, Q8BZH0, Q8JFQ2, Q8R3S2, Q8R4D1, Q8WU67

Diamond homologs: A0PC02, A6SL61, A6ZXL1, A7ER02, A7TIQ0, B0G143, B3LH09, F1RFX9, G3Y1Q5, G5EE96, K3VFR5, O74439, O77792, O81845, O89035, O95258, O95847, O97562, O97649, P04575, P04633, P10861, P12242, P14271, P22292, P25874, P32332, P55851, P55916, P56499, P56500, P56501, P70406, P90992, P97700, Q02978, Q06143, Q07534, Q08DK7, Q18P97

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 139 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of apoptotic process	14	4.0×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

98 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	3
Uncertain significance	54
Likely benign	12
Benign	4

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1708415	NM_012140.5(SLC25A10):c.762+1G>A	Likely pathogenic
3780613	NM_012140.5(SLC25A10):c.329-2A>T	Likely pathogenic
446175	NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter)	Likely pathogenic

SpliceAI

2161 predictions. Top by Δscore:

Variant	Effect	Δscore
17:81712515:TCAAG:T	donor_loss	1.0000
17:81712516:CAAGG:C	donor_loss	1.0000
17:81712518:AGG:A	donor_loss	1.0000
17:81712519:GGTGA:G	donor_loss	1.0000
17:81712520:G:GA	donor_loss	1.0000
17:81715068:GACAG:G	donor_gain	1.0000
17:81715073:G:A	donor_loss	1.0000
17:81715073:G:GG	donor_gain	1.0000
17:81715590:GCG:G	donor_gain	1.0000
17:81715591:CGGTG:C	donor_loss	1.0000
17:81715592:GGT:G	donor_loss	1.0000
17:81715593:G:GA	donor_loss	1.0000
17:81715593:G:GG	donor_gain	1.0000
17:81715594:T:A	donor_loss	1.0000
17:81715738:TCAG:T	donor_loss	1.0000
17:81715739:CAG:C	donor_loss	1.0000
17:81715739:CAGG:C	donor_loss	1.0000
17:81715741:GGT:G	donor_loss	1.0000
17:81715742:G:A	donor_loss	1.0000
17:81715742:G:GA	donor_loss	1.0000
17:81715743:T:A	donor_loss	1.0000
17:81716051:G:GG	donor_gain	1.0000
17:81716806:C:CA	acceptor_gain	1.0000
17:81716854:AG:A	donor_loss	1.0000
17:81716855:GG:G	donor_loss	1.0000
17:81716856:G:T	donor_loss	1.0000
17:81716857:T:A	donor_loss	1.0000
17:81717395:GCAG:G	acceptor_loss	1.0000
17:81717396:CAGCT:C	acceptor_loss	1.0000
17:81717397:A:AC	acceptor_loss	1.0000

AlphaMissense

1836 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:81712512:T:C	L29P	0.999
17:81715068:G:C	R70T	0.999
17:81717480:A:C	S206R	0.999
17:81717482:C:A	S206R	0.999
17:81717482:C:G	S206R	0.999
17:81717828:G:C	K224N	0.999
17:81717828:G:T	K224N	0.999
17:81719976:G:C	G255R	0.999
17:81712473:C:A	A16D	0.998
17:81712508:G:A	D28N	0.998
17:81712508:G:C	D28H	0.998
17:81714960:T:C	L34P	0.998
17:81715052:A:C	S65R	0.998
17:81715054:C:A	S65R	0.998
17:81715054:C:G	S65R	0.998
17:81715069:A:C	R70S	0.998
17:81715069:A:T	R70S	0.998
17:81715702:G:A	G113E	0.998
17:81715713:G:A	G117R	0.998
17:81715713:G:C	G117R	0.998
17:81715714:G:A	G117E	0.998
17:81715732:T:A	V123D	0.998
17:81716015:G:C	Q128H	0.998
17:81716015:G:T	Q128H	0.998
17:81717068:G:A	G177D	0.998
17:81717422:G:C	K186N	0.998
17:81717422:G:T	K186N	0.998
17:81717817:G:C	D221H	0.998
17:81717833:G:C	R226P	0.998
17:81720001:T:C	L263P	0.998

dbSNP variants (sampled 300 via entrez): RS1000397725 (17:81713532 C>T), RS1000407543 (17:81713192 G>GT), RS1001330049 (17:81713948 C>G), RS1001754184 (17:81720230 G>A), RS1002176868 (17:81716529 C>A,T), RS1002531542 (17:81712335 G>A,C,T), RS1002759706 (17:81710366 A>G), RS1002775241 (17:81718388 G>C), RS1002889246 (17:81710780 A>T), RS1003002224 (17:81719202 G>A), RS1003528399 (17:81718963 CAAAA>C,CAAA,CAAAAA,CAAAAAAAA), RS1003558740 (17:81719307 A>G), RS1003800853 (17:81711393 C>T), RS1004194479 (17:81711764 G>A), RS1004379958 (17:81714180 A>G,T)

Disease associations

OMIM: gene MIM:606794 | disease phenotypes: MIM:618972

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial DNA depletion syndrome 19	Moderate	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
mitochondrial disease	Limited	AR

Mondo (2): mitochondrial DNA depletion syndrome 19 (MONDO:0033545), mitochondrial complex I deficiency (MONDO:0100133)

Orphanet (1): Isolated complex I deficiency (Orphanet:2609)

HPO phenotypes

17 total (17 of 17 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000034	Hydrocele testis
HP:0000047	Hypospadias
HP:0000365	Hearing impairment
HP:0001257	Spasticity
HP:0001290	Generalized hypotonia
HP:0001336	Myoclonus
HP:0001935	Microcytic anemia
HP:0002079	Hypoplasia of the corpus callosum
HP:0002151	Increased circulating lactate concentration
HP:0002273	Tetraparesis
HP:0007359	Focal-onset seizure
HP:0009141	Depletion of mitochondrial DNA in muscle tissue
HP:0010841	Multifocal epileptiform discharges
HP:0011923	Decreased activity of mitochondrial complex I
HP:0012469	Infantile spasms
HP:0100660	Dyskinesia

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001786_6	Dental caries	5.000000e-06
GCST010002_133	Refractive error	2.000000e-50

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537475	Mitochondrial complex I deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — Mitochondrial di- and tri-carboxylic acid transporter subfamily

CTD chemical–gene interactions

49 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects binding, increases reaction, decreases expression, increases abundance, increases expression	5
Valproic Acid	affects cotreatment, increases expression, decreases expression, increases methylation	4
Aflatoxin B1	affects expression, decreases expression	3
Benzo(a)pyrene	decreases expression	2
Cadmium	increases expression, increases response to substance, increases abundance	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
afuresertib	decreases expression	1
bisphenol A	affects expression	1
tetrahydropalmatine	increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
obeticholic acid	decreases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)	decreases expression	1
NSC 689534	decreases expression, affects binding	1
Temozolomide	increases expression	1
Troglitazone	decreases expression	1
Acetaminophen	affects expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Cisplatin	decreases expression	1
Copper	affects binding, decreases expression	1

Cellosaurus cell lines

5 cell lines: 4 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3H3	Abcam HEK293T SLC25A10 KO	Transformed cell line	Female
CVCL_D4JB	HCT116-SLC25A10-KO-c2	Cancer cell line	Male
CVCL_D4JC	HCT116-SLC25A10-KO-c5	Cancer cell line	Male
CVCL_TM06	HAP1 SLC25A10 (-) 1	Cancer cell line	Male
CVCL_TM07	HAP1 SLC25A10 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

1 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05162768	PHASE3	COMPLETED	Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)