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Gene Gene information from NCBI Gene database.
Entrez ID 55972
Gene name Solute carrier family 25 member 40
Gene symbol SLC25A40
Synonyms (NCBI Gene)
MCFP
Chromosome 7
Chromosome location 7q21.12
Summary SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
315 Show/Hide all (315)
miRTarBase ID miRNA Experiments Reference
MIRT005248 hsa-miR-155-5p pSILAC 18668040
MIRT005248 hsa-miR-155-5p Proteomics;Other 18668040
MIRT024941 hsa-miR-215-5p Microarray 19074876
MIRT026648 hsa-miR-192-5p Microarray 19074876
MIRT043799 hsa-miR-328-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12 Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 33961781
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610821 29680 ENSG00000075303
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TBP6
Protein name Mitochondrial glutathione transporter SLC25A40 (Mitochondrial carrier family protein) (Solute carrier family 25 member 40)
Protein function Probable mitochondrial transporter required for glutathione import into mitochondria (PubMed:34707288). Glutathione, which plays key roles in oxidative metabolism, is produced exclusively in the cytosol and is imported in many organelles (PubMed
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 12 → 136 Mitochondrial carrier protein Family
PF00153 Mito_carr 231 → 332 Mitochondrial carrier protein Family
PF00153 Mito_carr 138 → 228 Mitochondrial carrier protein Family
Sequence
Sequence length 338
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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 Reference Evidence Score
SLC25A40-related disorder Likely benign ClinVar —
★★★★★
★★☆☆☆
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
Hypertriglyceridemia Hypertriglyceridemia Pubtator 24268658, 33407432 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 37407483 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Squamous cell carcinoma Carcinoma BEFREE 22447203
★★★★★
★☆☆☆☆
Found in Text Mining only