Gene Gene information from NCBI Gene database.
Entrez ID 1468
Gene name Solute carrier family 25 member 10
Gene symbol SLC25A10
Synonyms (NCBI Gene)
DICMTDPS19
Chromosome 17
Chromosome location 17q25.3
Summary 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
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs114621664 C>T Likely-pathogenic Coding sequence variant, synonymous variant, missense variant
rs200706742 G>A Likely-pathogenic Intron variant
rs1555703272 A>T Likely-pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
118
miRTarBase ID miRNA Experiments Reference
MIRT023781 hsa-miR-1-3p Proteomics 18668040
MIRT046668 hsa-miR-222-3p CLASH 23622248
MIRT041535 hsa-miR-193b-3p CLASH 23622248
MIRT443503 hsa-miR-4726-3p PAR-CLIP 22100165
MIRT443503 hsa-miR-4726-3p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0005310 Function Dicarboxylic acid transmembrane transporter activity EXP 29211846
GO:0005310 Function Dicarboxylic acid transmembrane transporter activity IEA
GO:0005310 Function Dicarboxylic acid transmembrane transporter activity TAS
GO:0005515 Function Protein binding IPI 19060904, 19447967, 21516116, 25416956, 26871637, 31515488, 32296183
GO:0005634 Component Nucleus HDA 21630459
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606794 10980 ENSG00000183048
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBX3
Protein name Mitochondrial dicarboxylate carrier (DIC) (Solute carrier family 25 member 10)
Protein function Catalyzes the electroneutral exchange or flux of physiologically important metabolites such as dicarboxylates (malonate, malate, succinate), inorganic sulfur-containing anions, and phosphate, across mitochondrial inner membrane (PubMed:29211846)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 5 93 Mitochondrial carrier protein Family
PF00153 Mito_carr 95 192 Mitochondrial carrier protein Family
PF00153 Mito_carr 196 284 Mitochondrial carrier protein Family
Tissue specificity TISSUE SPECIFICITY: Present in high amounts in liver and kidney, and at lower levels in all the other tissues analyzed. {ECO:0000269|PubMed:10585886}.
Sequence
Sequence length 287
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Proximal tubule bicarbonate reclamation   Sulfide oxidation to sulfate
Organic anion transporters
Gluconeogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Mitochondrial complex I deficiency Likely pathogenic rs1555703272 RCV000516166
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial DNA depletion syndrome 19 Likely pathogenic rs1555703272 RCV001251077
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEARING LOSS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE ClinGen, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 11779431, 8689611
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 12376462
★☆☆☆☆
Found in Text Mining only
Arthropathy Arthropathy BEFREE 30668429
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma CTD_human_DG 12376462
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma, Spindle-Cell Carcinoma CTD_human_DG 12376462
★☆☆☆☆
Found in Text Mining only
Congenital chromosomal disease Congenital Chromosomal Disease BEFREE 11114710
★☆☆☆☆
Found in Text Mining only
Congenital Thrombotic Thrombocytopenic Purpura Congenital Thrombotic Thrombocytopenic Purpura BEFREE 31003830
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 30668429
★☆☆☆☆
Found in Text Mining only
Disseminated Intravascular Coagulation Disseminated Intravascular Coagulation BEFREE 302683, 30430990, 30453810
★☆☆☆☆
Found in Text Mining only
Epileptic encephalopathy Epileptic encephalopathy BEFREE 29211846
★☆☆☆☆
Found in Text Mining only