Gene Gene information from NCBI Gene database.
Entrez ID 284439
Gene name Solute carrier family 25 member 42
Gene symbol SLC25A42
Synonyms (NCBI Gene)
MECREN
Chromosome 19
Chromosome location 19p13.11
Summary This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial tra
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs864321624 A>G Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs1247424432 T>A Pathogenic Splice donor variant
rs1568523935 C>G Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
156
miRTarBase ID miRNA Experiments Reference
MIRT019909 hsa-miR-375 Microarray 20215506
MIRT710880 hsa-miR-551b-5p HITS-CLIP 19536157
MIRT710879 hsa-miR-6750-3p HITS-CLIP 19536157
MIRT710878 hsa-miR-6511a-3p HITS-CLIP 19536157
MIRT710877 hsa-miR-6511b-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0005347 Function ATP transmembrane transporter activity IDA 19429682
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus HDA 21630459
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 19429682
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610823 28380 ENSG00000181035
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86VD7
Protein name Mitochondrial coenzyme A transporter SLC25A42 (Solute carrier family 25 member 42)
Protein function Mitochondrial carrier mediating the transport of coenzyme A (CoA) in mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3',5'-diphosphate.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 29 122 Mitochondrial carrier protein Family
PF00153 Mito_carr 127 219 Mitochondrial carrier protein Family
PF00153 Mito_carr 222 316 Mitochondrial carrier protein Family
Sequence
Sequence length 318
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
17
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Inborn mitochondrial myopathy Likely pathogenic; Pathogenic rs864321624 RCV000203566
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression Likely pathogenic; Pathogenic rs864321624, rs1247424432 RCV000412490
RCV000770933
SLC25A42-related mitochondrial disorder Likely pathogenic; Pathogenic rs864321624 RCV000984915
SLC25A42-related mitochondrial encephalomyopathy Likely pathogenic rs1568523935 RCV000735224
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Benign rs568414664 RCV005930661
Malignant tumor of esophagus Benign rs111249769 RCV005923386
Ovarian serous cystadenocarcinoma Benign; Uncertain significance rs111249769, rs749095738 RCV005923387
RCV005932048
SLC25A42-related disorder Benign; Likely benign rs56144126, rs760491432, rs532906962, rs746409487 RCV003980529
RCV003933685
RCV003898443
RCV003942256
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 37304236