Gene Gene information from NCBI Gene database.
Entrez ID 81034
Gene name Solute carrier family 25 member 32
Gene symbol SLC25A32
Synonyms (NCBI Gene)
GLYBMFTMFTCRREI
Chromosome 8
Chromosome location 8q22.3
Summary This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs142329098 C>T Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs147014855 C>T Pathogenic Stop gained, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
863
miRTarBase ID miRNA Experiments Reference
MIRT001591 hsa-let-7b-5p pSILAC 18668040
MIRT027697 hsa-miR-98-5p Microarray 19088304
MIRT028341 hsa-miR-32-5p Sequencing 20371350
MIRT031961 hsa-miR-16-5p Proteomics 18668040
MIRT001591 hsa-let-7b-5p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 21956163, 29666258
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
138480 29683 ENSG00000164933
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H2D1
Protein name Solute carrier family 25 member 32 (Mitochondrial FAD transporter)
Protein function Facilitates flavin adenine dinucleotide (FAD) translocation across the mitochondrial inner membrane into the mitochondrial matrix where it acts as a redox cofactor to assist flavoenzyme activities in fundamental metabolic processes including fat
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 20 113 Mitochondrial carrier protein Family
PF00153 Mito_carr 116 213 Mitochondrial carrier protein Family
PF00153 Mito_carr 220 310 Mitochondrial carrier protein Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 315
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Metabolism of folate and pterines
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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 Evidence Score
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Exercise intolerance, riboflavin-responsive Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Glioblastoma Associate 37365560
★☆☆☆☆
Found in Text Mining only
Glioma Stimulate 37365560
★☆☆☆☆
Found in Text Mining only
Neuromuscular Diseases Associate 28443623
★☆☆☆☆
Found in Text Mining only
Riboflavin Deficiency Associate 28443623
★☆☆☆☆
Found in Text Mining only