SLC25A26 (solute carrier family 25 member 26)

Gene

• Entrez ID: 115286
• Gene name: Solute carrier family 25 member 26
• Gene symbol: SLC25A26
• Synonyms (NCBI Gene): COXPD28, SAMC
• 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 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

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
MIRT722966	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT722965	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT722964	hsa-miR-7156-3p	HITS-CLIP	19536157
MIRT722963	hsa-miR-1301-3p	HITS-CLIP	19536157
MIRT722962	hsa-miR-5047	HITS-CLIP	19536157
MIRT722961	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT722960	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT722959	hsa-miR-6809-3p	HITS-CLIP	19536157
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
MIRT722966	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT722965	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT722964	hsa-miR-7156-3p	HITS-CLIP	19536157
MIRT722963	hsa-miR-1301-3p	HITS-CLIP	19536157
MIRT722962	hsa-miR-5047	HITS-CLIP	19536157
MIRT722961	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT722960	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT722959	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT1356095	hsa-miR-1256	CLIP-seq
MIRT1356096	hsa-miR-3616-5p	CLIP-seq
MIRT1356097	hsa-miR-3647-5p	CLIP-seq
MIRT1356098	hsa-miR-4711-3p	CLIP-seq
MIRT1356099	hsa-miR-4795-5p	CLIP-seq
MIRT1356100	hsa-miR-495	CLIP-seq
MIRT1356101	hsa-miR-511	CLIP-seq
MIRT1356102	hsa-miR-573	CLIP-seq
MIRT2105394	hsa-miR-1324	CLIP-seq
MIRT2105395	hsa-miR-183	CLIP-seq
MIRT2329953	hsa-miR-1237	CLIP-seq
MIRT2329954	hsa-miR-141	CLIP-seq
MIRT2329955	hsa-miR-200a	CLIP-seq
MIRT2329956	hsa-miR-2467-5p	CLIP-seq
MIRT2329957	hsa-miR-3166	CLIP-seq
MIRT2329958	hsa-miR-3188	CLIP-seq
MIRT2329959	hsa-miR-3689d	CLIP-seq
MIRT2329960	hsa-miR-3975	CLIP-seq
MIRT2329961	hsa-miR-4316	CLIP-seq
MIRT2329962	hsa-miR-4710	CLIP-seq
MIRT1356099	hsa-miR-4795-5p	CLIP-seq
MIRT2329963	hsa-miR-485-5p	CLIP-seq
MIRT2329964	hsa-miR-642b	CLIP-seq
MIRT2624143	hsa-miR-1205	CLIP-seq
MIRT2105394	hsa-miR-1324	CLIP-seq
MIRT2624144	hsa-miR-136	CLIP-seq
MIRT2624145	hsa-miR-1972	CLIP-seq
MIRT2624146	hsa-miR-3065-3p	CLIP-seq
MIRT2624147	hsa-miR-3128	CLIP-seq
MIRT2624148	hsa-miR-3194-5p	CLIP-seq
MIRT2624149	hsa-miR-326	CLIP-seq
MIRT2624150	hsa-miR-330-5p	CLIP-seq
MIRT2624151	hsa-miR-3663-5p	CLIP-seq
MIRT2624152	hsa-miR-4291	CLIP-seq
MIRT2624153	hsa-miR-4325	CLIP-seq
MIRT2624154	hsa-miR-4418	CLIP-seq
MIRT2624155	hsa-miR-4438	CLIP-seq
MIRT2624156	hsa-miR-4659a-3p	CLIP-seq
MIRT2624157	hsa-miR-4659b-3p	CLIP-seq
MIRT2624158	hsa-miR-4720-5p	CLIP-seq
MIRT2624159	hsa-miR-4753-3p	CLIP-seq
MIRT1356099	hsa-miR-4795-5p	CLIP-seq
MIRT2624160	hsa-miR-4799-3p	CLIP-seq
MIRT2624161	hsa-miR-485-3p	CLIP-seq
MIRT2624162	hsa-miR-507	CLIP-seq
MIRT2624163	hsa-miR-509-3-5p	CLIP-seq
MIRT2624164	hsa-miR-5095	CLIP-seq
MIRT2624165	hsa-miR-509-5p	CLIP-seq
MIRT2624166	hsa-miR-557	CLIP-seq
MIRT2624167	hsa-miR-582-3p	CLIP-seq
MIRT2624168	hsa-miR-617	CLIP-seq
MIRT2624169	hsa-miR-634	CLIP-seq
MIRT2624170	hsa-miR-767-3p	CLIP-seq
MIRT2624171	hsa-miR-942	CLIP-seq
MIRT2624143	hsa-miR-1205	CLIP-seq
MIRT2691003	hsa-miR-1305	CLIP-seq
MIRT2105394	hsa-miR-1324	CLIP-seq
MIRT2624144	hsa-miR-136	CLIP-seq
MIRT2624146	hsa-miR-3065-3p	CLIP-seq
MIRT2691004	hsa-miR-320a	CLIP-seq
MIRT2691005	hsa-miR-320b	CLIP-seq
MIRT2691006	hsa-miR-320c	CLIP-seq
MIRT2691007	hsa-miR-320d	CLIP-seq
MIRT2691008	hsa-miR-320e	CLIP-seq
MIRT2624149	hsa-miR-326	CLIP-seq
MIRT2691009	hsa-miR-330-3p	CLIP-seq
MIRT2624150	hsa-miR-330-5p	CLIP-seq
MIRT2624151	hsa-miR-3663-5p	CLIP-seq
MIRT2624152	hsa-miR-4291	CLIP-seq
MIRT2624153	hsa-miR-4325	CLIP-seq
MIRT2624154	hsa-miR-4418	CLIP-seq
MIRT2691010	hsa-miR-4429	CLIP-seq
MIRT2624156	hsa-miR-4659a-3p	CLIP-seq
MIRT2624157	hsa-miR-4659b-3p	CLIP-seq
MIRT2691011	hsa-miR-4722-3p	CLIP-seq
MIRT2624159	hsa-miR-4753-3p	CLIP-seq
MIRT2691012	hsa-miR-4793-5p	CLIP-seq
MIRT2624162	hsa-miR-507	CLIP-seq
MIRT2624163	hsa-miR-509-3-5p	CLIP-seq
MIRT2624165	hsa-miR-509-5p	CLIP-seq
MIRT2624166	hsa-miR-557	CLIP-seq
MIRT2624167	hsa-miR-582-3p	CLIP-seq
MIRT2691013	hsa-miR-607	CLIP-seq
MIRT2624170	hsa-miR-767-3p	CLIP-seq
MIRT2624171	hsa-miR-942	CLIP-seq

Gene ontology (GO)

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
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IDA	14674884
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0015297	Function	Antiporter activity	IEA
GO:0015805	Process	S-adenosyl-L-methionine transport	IMP	14674884
GO:0015860	Process	Purine nucleoside transmembrane transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0043414	Process	Macromolecule methylation	IMP	26522469
GO:0180003	Function	S-adenosyl-L-methionine:S-adenosyl-L-homocysteine antiporter activity	IMP	26522469, 34375635
GO:1902475	Process	L-alpha-amino acid transmembrane transport	IEA
GO:1990543	Process	Mitochondrial S-adenosyl-L-methionine transmembrane transport	IMP	26522469, 34375635

Other IDs

• MIM: 611037
• HGNC: 20661
• e!Ensembl: ENSG00000144741

Protein

• UniProt ID: 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:

  MDRPGFVAALVAGGVAGVSVDLILFPLDTIKTRLQSPQGFSKAGGFHGIYAGVPSAAIGS
  FPNAAAFFITYEYVKWFLHADSSSYLTPMKHMLAASAGEVVACLIRVPSEVVKQRAQVSA
  STRTFQIFSNILYEEGIQGLYRGYKSTVLREIPFSLVQFPLWESLKALWSWRQDHVVDSW
  QSAVCGAFAGGFAAAVTTPLDVAKTRITLAKAGSSTADGNVLSVLHGVWRSQGLAGLFAG
  VFPRMAAISLGGFIFLGAYDRTHSLLLEVGRKSP

• Sequence length: 274

Pathways

Reactome:

Transport of inorganic cations/anions and amino acids/oligopeptides

Associated diseases

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Combined oxidative phosphorylation deficiency 28	Pathogenic; Likely pathogenic	rs869025313, rs869025314, rs869025315, rs781798317, rs1316228094	RCV000207467 RCV000207457 RCV000207463 RCV000207470 RCV003405148	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APPENDICITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BINGE EATING	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 28	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypokalemic periodic paralysis, type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOID LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC25A26-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	29391396		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bulimia	Bulimia	GWASCAT_DG	29391396		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	26522469		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28	Combined Oxidative Phosphorylation Deficiency	ORPHANET_DG	26522469		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	26522469		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28	Combined Oxidative Phosphorylation Deficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	26522469	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	GWASCAT_DG	29124443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	29124443		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26522469	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect	Cardiopulmonary Failure	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37002570	Inhibit	★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28118529	Inhibit	★☆☆☆☆ Found in Text Mining only