This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is currently classified as a protein-coding locus. [provided by RefSeq, Jul 2008] See more...

Aliases for SLC25A52 Gene

Aliases for SLC25A52 Gene

  • Solute Carrier Family 25 Member 52 2 3 4 5
  • Mitochondrial Nicotinamide Adenine Dinucleotide Transporter SLC25A52 3 4
  • Mitochondrial Carrier Triple Repeat Protein 2 3 4
  • Mitochondrial NAD(+) Transporter SLC25A52 3 4
  • Mitochondrial Carrier Triple Repeat 2 2 3
  • MCART2 3 4
  • Solute Carrier Family 25, Member 52 2
  • SLC25A52 5

External Ids for SLC25A52 Gene

Previous HGNC Symbols for SLC25A52 Gene

  • MCART2

Previous GeneCards Identifiers for SLC25A52 Gene

  • GC18M029340

Summaries for SLC25A52 Gene

Entrez Gene Summary for SLC25A52 Gene

  • This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is currently classified as a protein-coding locus. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC25A52 Gene

SLC25A52 (Solute Carrier Family 25 Member 52) is a Protein Coding gene. An important paralog of this gene is SLC25A51.

UniProtKB/Swiss-Prot Summary for SLC25A52 Gene

  • Mitochondrial membrane carrier protein that mediates the import of NAD(+) into mitochondria (PubMed:32906142). Compared to SLC25A51, SLC25A52-mediated transport is not essential for the import of NAD(+) in mitochondria (PubMed:32906142).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A52 Gene

Genomics for SLC25A52 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC25A52 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J031759 Enhancer 0.2 Ensembl 256.6 +1.6 1579 0.6 SLC25A52 piR-60542-001 HSALNG0120747 piR-32214-301 B4GALT6 RF00017-2648
GH18J031941 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 5.6 -181.9 -181921 4.8 TBP SP1 MXD4 FEZF1 SIX5 NR2C1 MNT IKZF1 SMAD5 ETS1 TRAPPC8 ENSG00000263823 RF00017-2651 lnc-RNF125-2 ENSG00000263393 HNRNPA1P7 ENSG00000263924 RNF138 SLC25A52 DSG2
GH18J031788 Enhancer 0.8 Ensembl 11.9 -30.9 -30921 5.6 SP1 BCL11A CEBPA MNT ZNF513 FOXA2 TRIM22 IRF4 RXRA EBF1 SLC25A52 TRAPPC8 RNU6-1050P TTR piR-50357-064 piR-35329-007 RF00017-2648
GH18J031565 Enhancer 0.8 ENCODE 10.4 +194.3 194280 1.8 MXD4 CEBPA HOMEZ KDM6A REST SMAD4 RXRA ETV4 RARA TEAD3 B4GALT6 SLC25A52 TRAPPC8 DSG2 RF00017-2648 TTR
GH18J031581 Enhancer 0.8 Ensembl ENCODE 9.5 +179.3 179266 1.2 CEBPA RXRA FOXA2 JUND HNF4A FOXA1 RAD21 REST CEBPG MAX B4GALT6 SLC25A52 RF00017-2648 HSALNG0120736 TTR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A52 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A52

Genomic Locations for SLC25A52 Gene

Latest Assembly
chr18:31,759,584-31,760,880
(GRCh38/hg38)
Size:
1,297 bases
Orientation:
Minus strand

Previous Assembly
chr18:29,339,547-29,340,843
(GRCh37/hg19 by Entrez Gene)
Size:
1,297 bases
Orientation:
Minus strand

chr18:29,339,525-29,340,843
(GRCh37/hg19 by Ensembl)
Size:
1,319 bases
Orientation:
Minus strand

Genomic View for SLC25A52 Gene

Genes around SLC25A52 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A52 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A52 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A52 Gene

Proteins for SLC25A52 Gene

  • Protein details for SLC25A52 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3SY17-S2552_HUMAN
    Recommended name:
    Mitochondrial nicotinamide adenine dinucleotide transporter SLC25A52
    Protein Accession:
    Q3SY17

    Protein attributes for SLC25A52 Gene

    Size:
    297 amino acids
    Molecular mass:
    33721 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC25A52 Gene

Post-translational modifications for SLC25A52 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC25A52 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC25A52 Gene

Domains & Families for SLC25A52 Gene

Gene Families for SLC25A52 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SLC25A52 Gene

Suggested Antigen Peptide Sequences for SLC25A52 Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial carrier triple repeat protein 2 (MCAR2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3SY17

UniProtKB/Swiss-Prot:

S2552_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 SLC25A52: view

Function for SLC25A52 Gene

Molecular function for SLC25A52 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial membrane carrier protein that mediates the import of NAD(+) into mitochondria (PubMed:32906142). Compared to SLC25A51, SLC25A52-mediated transport is not essential for the import of NAD(+) in mitochondria (PubMed:32906142).

Phenotypes From GWAS Catalog for SLC25A52 Gene

Gene Ontology (GO) - Molecular Function for SLC25A52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051724 NAD transmembrane transporter activity IDA 32906142
genes like me logo Genes that share ontologies with SLC25A52: view
genes like me logo Genes that share phenotypes with SLC25A52: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A52

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC25A52 Gene

Localization for SLC25A52 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A52 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 SLC25A52 gene
Compartment Confidence
mitochondrion 5
peroxisome 2
cytosol 1
nucleus 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC25A52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 32906142
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 SLC25A52: view

Pathways & Interactions for SLC25A52 Gene

PathCards logo

SuperPathways for SLC25A52 Gene

No Data Available

Interacting Proteins for SLC25A52 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000372612 Q3SY17-S2552_HUMAN for SLC25A52 Gene via STRING IID

Gene Ontology (GO) - Biological Process for SLC25A52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1990549 mitochondrial NAD transmembrane transport IDA 32906142
genes like me logo Genes that share ontologies with SLC25A52: view

No data available for Pathways by source and SIGNOR curated interactions for SLC25A52 Gene

Drugs & Compounds for SLC25A52 Gene

No Compound Related Data Available

Transcripts for SLC25A52 Gene

mRNA/cDNA for SLC25A52 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A52

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A52 Gene

No ASD Table

Relevant External Links for SLC25A52 Gene

GeneLoc Exon Structure for
SLC25A52

Expression for SLC25A52 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A52 Gene

mRNA differential expression in normal tissues according to GTEx for SLC25A52 Gene

This gene is overexpressed in Testis (x34.4).

Protein differential expression in normal tissues from HIPED for SLC25A52 Gene

This gene is overexpressed in Fetal Brain (17.0), Heart (12.7), Frontal cortex (11.6), Placenta (10.2), CD4 Tcells (9.5), and CD8 Tcells (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC25A52 Gene



Protein tissue co-expression partners for SLC25A52 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A52

SOURCE GeneReport for Unigene cluster for SLC25A52 Gene:

Hs.567708
genes like me logo Genes that share expression patterns with SLC25A52: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A52 Gene

Orthologs for SLC25A52 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC25A52 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC25A52 30 31
  • 98.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 93 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia MCART1 31
  • 91 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Slc25a51 31
  • 85 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 76 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 68 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 72 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii zgc:73228 30 31
  • 62.53 (n)
ManyToMany
CU638740.1 31
  • 54 (a)
ManyToMany
BX088718.1 31
  • 54 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG7943 31
  • 39 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea T20D3.5 31
  • 40 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToMany
Species where no ortholog for SLC25A52 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for SLC25A52 Gene

ENSEMBL:
Gene Tree for SLC25A52 (if available)
TreeFam:
Gene Tree for SLC25A52 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A52: view image

Paralogs for SLC25A52 Gene

Variants for SLC25A52 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A52 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs3859364 - p.Leu239Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC25A52 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC25A52 Gene

Variant ID Type Subtype PubMed ID
esv3893086 CNV gain 25118596
nsv1057229 CNV gain 25217958
nsv960273 CNV duplication 23825009

Variation tolerance for SLC25A52 Gene

Residual Variation Intolerance Score: 94.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.19; 52.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A52 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A52

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A52 Gene

Disorders for SLC25A52 Gene

Additional Disease Information for SLC25A52

No disorders were found for SLC25A52 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC25A52 Gene

Publications for SLC25A52 Gene

  1. SLC25A51 is a mammalian mitochondrial NAD+ transporter. (PMID: 32906142) Luongo TS … Baur JA (Nature 2020) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3
  5. The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PMID: 23266187) Palmieri F (Molecular aspects of medicine 2013) 3

Products for SLC25A52 Gene

  • Biorbyt antibodies for SLC25A52

Sources for SLC25A52 Gene