Gene Gene information from NCBI Gene database.
Entrez ID 115286
Gene name Solute carrier family 25 member 26
Gene symbol SLC25A26
Synonyms (NCBI Gene)
COXPD28SAMC
Chromosome 3
Chromosome location 3p14.1
Summary This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This p
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs781798317 G>A Pathogenic Splice donor variant, intron variant
rs869025313 T>G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs869025314 C>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs869025315 C>T Pathogenic Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
111
miRTarBase ID miRNA Experiments Reference
MIRT722971 hsa-miR-329-3p HITS-CLIP 19536157
MIRT722970 hsa-miR-362-3p HITS-CLIP 19536157
MIRT722969 hsa-miR-342-3p HITS-CLIP 19536157
MIRT722968 hsa-miR-4660 HITS-CLIP 19536157
MIRT722967 hsa-miR-3160-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000095 Function S-adenosyl-L-methionine transmembrane transporter activity EXP 14674884, 26522469
GO:0000095 Function S-adenosyl-L-methionine transmembrane transporter activity IBA
GO:0000095 Function S-adenosyl-L-methionine transmembrane transporter activity IMP 14674884
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611037 20661 ENSG00000144741
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q70HW3
Protein name Mitochondrial S-adenosylmethionine carrier protein (SAM carrier) (Solute carrier family 25 member 26)
Protein function Mitochondrial S-adenosyl-L-methionine/S-adenosyl-L-homocysteine antiporter. Mediates the exchange of cytosolic S-adenosyl-L-methionine, the predominant methyl-group donor for macromolecule methylation processes, for mitochondrial S-adenosylhomoc
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 2 44 Mitochondrial carrier protein Family
PF00153 Mito_carr 84 173 Mitochondrial carrier protein Family
PF00153 Mito_carr 176 269 Mitochondrial carrier protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in testis, with moderate expression in brain, heart, kidney, lung, skeletal muscle, pancreas, small intestine and liver, and low expression in spleen. {ECO:0000269|PubMed:14674884}.
Sequence
Sequence length 274
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Transport of inorganic cations/anions and amino acids/oligopeptides
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Combined oxidative phosphorylation deficiency 28 Pathogenic; Likely pathogenic rs869025313, rs869025314, rs869025315, rs781798317, rs1316228094 RCV000207467
RCV000207457
RCV000207463
RCV000207470
RCV003405148
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs108941, rs36174201 RCV005914644
RCV005902379
Gastric cancer Benign rs332387, rs141974918 RCV005906878
RCV005907407
Hepatocellular carcinoma Benign rs332387 RCV005906876
Hypokalemic periodic paralysis, type 1 Uncertain significance rs2472133539 RCV002285097
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Edema Associate 26522469
Inflammation Inhibit 37002570
Mitochondrial Diseases Associate 26522469
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport Associate 26522469
Muscle Weakness Associate 26522469
Muscular Diseases Associate 35216315
Neoplasms Inhibit 37002570
Pulmonary Disease Chronic Obstructive Inhibit 37002570
Renal Insufficiency Associate 26522469
Respiratory Insufficiency Associate 26522469