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 transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 2012] See more...

Aliases for SLC25A42 Gene

Aliases for SLC25A42 Gene

  • Solute Carrier Family 25 Member 42 2 3 4 5
  • Mitochondrial Coenzyme A Transporter SLC25A42 3 4
  • Solute Carrier Family 25, Member 42 2
  • MECREN 3

External Ids for SLC25A42 Gene

Previous GeneCards Identifiers for SLC25A42 Gene

  • GC19P019036
  • GC19P019174
  • GC19P018738

Summaries for SLC25A42 Gene

Entrez Gene Summary for SLC25A42 Gene

  • 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 transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 2012]

GeneCards Summary for SLC25A42 Gene

SLC25A42 (Solute Carrier Family 25 Member 42) is a Protein Coding gene. Diseases associated with SLC25A42 include Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression and Mitochondrial Myopathy. Gene Ontology (GO) annotations related to this gene include ATP transmembrane transporter activity and coenzyme A transmembrane transporter activity. An important paralog of this gene is SLC25A16.

UniProtKB/Swiss-Prot Summary for SLC25A42 Gene

  • Mitochondrial carrier mediating the transport of coenzyme A (CoA) in mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3',5'-diphosphate.

Additional gene information for SLC25A42 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A42 Gene

Genomics for SLC25A42 Gene

GeneHancer (GH) Regulatory Elements for SLC25A42 Gene

Promoters and enhancers for SLC25A42 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A42 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC25A42 gene promoter:
  • CBF(2)
  • COMP1
  • CUTL1
  • IRF-7A
  • NF-E2
  • NF-E2 p45
  • Sox9
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for SLC25A42 Gene

Genomic Locations for SLC25A42 Gene
chr19:19,063,966-19,113,030
(GRCh38/hg38)
Size:
49,065 bases
Orientation:
Plus strand
chr19:19,174,803-19,223,704
(GRCh37/hg19)
Size:
48,902 bases
Orientation:
Plus strand

Genomic View for SLC25A42 Gene

Genes around SLC25A42 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A42 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A42 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A42 Gene

Proteins for SLC25A42 Gene

  • Protein details for SLC25A42 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VD7-S2542_HUMAN
    Recommended name:
    Mitochondrial coenzyme A transporter SLC25A42
    Protein Accession:
    Q86VD7
    Secondary Accessions:
    • D2T2J5
    • O14553
    • O43378

    Protein attributes for SLC25A42 Gene

    Size:
    318 amino acids
    Molecular mass:
    35409 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC02758.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for SLC25A42 Gene

Post-translational modifications for SLC25A42 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC25A42 Gene

No data available for DME Specific Peptides for SLC25A42 Gene

Domains & Families for SLC25A42 Gene

Gene Families for SLC25A42 Gene

Suggested Antigen Peptide Sequences for SLC25A42 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 25, member 42 (D2T2J5_HUMAN)
  • Solute carrier family 25 member 42 (S2542_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86VD7

UniProtKB/Swiss-Prot:

S2542_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with SLC25A42: view

Function for SLC25A42 Gene

Molecular function for SLC25A42 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial carrier mediating the transport of coenzyme A (CoA) in mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3',5'-diphosphate.

Phenotypes From GWAS Catalog for SLC25A42 Gene

Gene Ontology (GO) - Molecular Function for SLC25A42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005347 ATP transmembrane transporter activity IDA 19429682
GO:0015217 ADP transmembrane transporter activity IDA 19429682
GO:0015228 coenzyme A transmembrane transporter activity IDA 19429682
GO:0022857 transmembrane transporter activity IEA --
GO:0043262 adenosine-diphosphatase activity IDA 19429682
genes like me logo Genes that share ontologies with SLC25A42: view
genes like me logo Genes that share phenotypes with SLC25A42: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC25A42

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A42 Gene

Localization for SLC25A42 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A42 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC25A42 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC25A42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005739 mitochondrion IEA,IDA 19429682
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A42: view

Pathways & Interactions for SLC25A42 Gene

PathCards logo

SuperPathways for SLC25A42 Gene

No Data Available

Interacting Proteins for SLC25A42 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 13)
STRING Interaction Network
Selected Interacting proteins: ENSP00000326693 Q86VD7-S2542_HUMAN for SLC25A42 Gene via STRING IID

Gene Ontology (GO) - Biological Process for SLC25A42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015866 ADP transport IDA 19429682
GO:0015867 ATP transport IDA 19429682
GO:0035349 coenzyme A transmembrane transport IDA 19429682
GO:0055085 transmembrane transport IEA --
GO:0080121 AMP transport IDA 19429682
genes like me logo Genes that share ontologies with SLC25A42: view

No data available for Pathways by source and SIGNOR curated interactions for SLC25A42 Gene

Drugs & Compounds for SLC25A42 Gene

No Compound Related Data Available

Transcripts for SLC25A42 Gene

mRNA/cDNA for SLC25A42 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A42 Gene

No ASD Table

Relevant External Links for SLC25A42 Gene

GeneLoc Exon Structure for
SLC25A42
ECgene alternative splicing isoforms for
SLC25A42

Expression for SLC25A42 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC25A42 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC25A42 Gene

This gene is overexpressed in Liver (x5.2).

Protein differential expression in normal tissues from HIPED for SLC25A42 Gene

This gene is overexpressed in Brain (19.5), Liver (12.4), and Gallbladder (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC25A42 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC25A42 Gene:

SLC25A42

SOURCE GeneReport for Unigene cluster for SLC25A42 Gene:

Hs.303669

Evidence on tissue expression from TISSUES for SLC25A42 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with SLC25A42: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A42 Gene

Orthologs for SLC25A42 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC25A42 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC25A42 33 32
  • 99.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A42 33 32
  • 91.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A42 33 32
  • 89.94 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a42 17 33 32
  • 85.85 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a42 32
  • 85.12 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC25A42 33
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A42 33
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A42 33 32
  • 72.87 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a42 32
  • 68.87 (n)
zebrafish
(Danio rerio)
Actinopterygii slc25a42 33 32
  • 70.14 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta att-ORFA 33 32
  • 61.82 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000097 32
  • 60.37 (n)
worm
(Caenorhabditis elegans)
Secernentea F43G9.3 33 32
  • 52.16 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LEU5 33
  • 28 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G26180 32
  • 49.39 (n)
Species where no ortholog for SLC25A42 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC25A42 Gene

ENSEMBL:
Gene Tree for SLC25A42 (if available)
TreeFam:
Gene Tree for SLC25A42 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A42: view image

Paralogs for SLC25A42 Gene

Variants for SLC25A42 Gene

Sequence variations from dbSNP and Humsavar for SLC25A42 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1247424432 pathogenic, METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION 19,105,729(+) T/A splice_donor_variant
rs1568523935 likely-pathogenic, SLC25A42-related mitochondrial encephalomyopathy 19,105,656(+) C/G coding_sequence_variant, stop_gained
rs864321624 likely-pathogenic, pathogenic, Mitochondrial myopathy, METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION 19,110,790(+) A/G coding_sequence_variant, missense_variant
rs1000027315 -- 19,102,845(+) G/C intron_variant
rs1000108975 -- 19,110,410(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC25A42 Gene

Variant ID Type Subtype PubMed ID
esv28513 CNV loss 19812545
esv3556143 CNV deletion 23714750
nsv1059305 CNV loss 25217958
nsv1151217 CNV deletion 26484159
nsv472790 CNV novel sequence insertion 20440878
nsv833778 CNV loss 17160897
nsv833779 CNV loss 17160897
nsv952424 CNV deletion 24416366

Variation tolerance for SLC25A42 Gene

Residual Variation Intolerance Score: 55.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.80; 16.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A42 Gene

Human Gene Mutation Database (HGMD)
SLC25A42
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A42

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A42 Gene

Disorders for SLC25A42 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC25A42 Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC25A42

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC25A42: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC25A42 Gene

Publications for SLC25A42 Gene

  1. A novel member of solute carrier family 25 (SLC25A42) is a transporter of coenzyme A and adenosine 3',5'-diphosphate in human mitochondria. (PMID: 19429682) Fiermonte G … Palmieri F (The Journal of biological chemistry 2009) 2 3 4 56
  2. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. (PMID: 16949250) Haitina T … Fredriksson R (Genomics 2006) 2 3 4 56
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 56

Products for SLC25A42 Gene

Sources for SLC25A42 Gene