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Aliases for SLC25A48 Gene

Aliases for SLC25A48 Gene

  • Solute Carrier Family 25 Member 48 2 3 5
  • HCC-Down-Regulated Mitochondrial Carrier Protein 2
  • Solute Carrier Family 25, Member 48 2
  • CTC-321K16.1 3

External Ids for SLC25A48 Gene

Previous GeneCards Identifiers for SLC25A48 Gene

  • GC05P135170
  • GC05P130358

Summaries for SLC25A48 Gene

GeneCards Summary for SLC25A48 Gene

SLC25A48 (Solute Carrier Family 25 Member 48) is a Protein Coding gene. An important paralog of this gene is SLC25A45.

Additional gene information for SLC25A48 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A48 Gene

Genomics for SLC25A48 Gene

GeneHancer (GH) Regulatory Elements for SLC25A48 Gene

Promoters and enhancers for SLC25A48 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I135834 Promoter/Enhancer 1.4 EPDnew ENCODE 569.1 +0.3 334 0.9 KLF17 MZF1 ZNF76 SIN3A ZNF335 GLIS2 ZNF366 ZSCAN5C SCRT2 ZNF143 SLC25A48 GC05P135837
GH05I135835 Enhancer 0.4 FANTOM5 552.2 +1.1 1065 0.1 ZNF335 EZH2 SLC25A48 GC05P135837
GH05I135704 Enhancer 0.6 ENCODE 11.1 -129.0 -129001 1.7 ZBTB6 ZNF189 GFI1B INSM2 ZFP37 ZNF324 GATA3 ZNF366 ZNF629 ZNF600 LOC107986453 SLC25A48 GC05P135690 PIR36208
GH05I135992 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 4.2 +160.5 160506 5 JUN ATF2 SP1 JUND ATF3 POLR2A FOS FOSL2 ATF7 RCOR1 LECT2 SMAD5 ENSG00000254239 IL9 SMAD5-AS1 TGFBI SLC25A48 GC05P136002
GH05I135642 Enhancer 0.8 ENCODE 6.4 -191.7 -191723 1.7 NCOA3 PKNOX1 CLOCK NFIB DDX20 NEUROD1 FEZF1 BMI1 ZIC2 CTBP1 ENSG00000250167 CXCL14 SMAD5-AS1 DDX46 SLC25A48 PIR41323 GC05P135637 GC05P135631
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC25A48 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SLC25A48 Gene

Genomic Locations for SLC25A48 Gene
53,989 bases
Plus strand

Genomic View for SLC25A48 Gene

Genes around SLC25A48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A48 Gene

Proteins for SLC25A48 Gene

  • Protein details for SLC25A48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Solute carrier family 25 member 48
    Protein Accession:
    Secondary Accessions:
    • Q8TAV9

    Protein attributes for SLC25A48 Gene

    311 amino acids
    Molecular mass:
    33440 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC25A48 Gene


neXtProt entry for SLC25A48 Gene

Post-translational modifications for SLC25A48 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC25A48 Gene

Domains & Families for SLC25A48 Gene

Gene Families for SLC25A48 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC25A48 Gene

Suggested Antigen Peptide Sequences for SLC25A48 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



S2548_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with SLC25A48: view

Function for SLC25A48 Gene

Phenotypes From GWAS Catalog for SLC25A48 Gene

Gene Ontology (GO) - Molecular Function for SLC25A48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000064 NOT L-ornithine transmembrane transporter activity IBA --
GO:0005515 protein binding IPI 25416956
GO:0022857 transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with SLC25A48: view
genes like me logo Genes that share phenotypes with SLC25A48: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC25A48 Gene

Localization for SLC25A48 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A48 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

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 SLC25A48 gene
Compartment Confidence
mitochondrion 4
cytoskeleton 2
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC25A48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA --
genes like me logo Genes that share ontologies with SLC25A48: view

Pathways & Interactions for SLC25A48 Gene

SuperPathways for SLC25A48 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC25A48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000066 NOT mitochondrial ornithine transport IBA --
GO:0006810 transport IEA --
GO:0006839 mitochondrial transport IBA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC25A48: view

No data available for Pathways by source and SIGNOR curated interactions for SLC25A48 Gene

Drugs & Compounds for SLC25A48 Gene

No Compound Related Data Available

Transcripts for SLC25A48 Gene

Unigene Clusters for SLC25A48 Gene

Solute carrier family 25, member 48:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A48 Gene

No ASD Table

Relevant External Links for SLC25A48 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC25A48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC25A48 Gene

mRNA differential expression in normal tissues according to GTEx for SLC25A48 Gene

This gene is overexpressed in Nerve - Tibial (x12.3), Brain - Amygdala (x4.3), and Brain - Hippocampus (x4.3).

Protein differential expression in normal tissues from HIPED for SLC25A48 Gene

This gene is overexpressed in Blymphocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC25A48 Gene

Protein tissue co-expression partners for SLC25A48 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC25A48 Gene:


SOURCE GeneReport for Unigene cluster for SLC25A48 Gene:


Evidence on tissue expression from TISSUES for SLC25A48 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with SLC25A48: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A48 Gene

Orthologs for SLC25A48 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC25A48 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SLC25A48 34
  • 47 (a)
(Canis familiaris)
Mammalia SLC25A48 34
  • 44 (a)
(Bos Taurus)
Mammalia SLC25A48 34
  • 42 (a)
(Mus musculus)
Mammalia Slc25a48 34
  • 41 (a)
(Monodelphis domestica)
Mammalia SLC25A48 34
  • 39 (a)
(Ornithorhynchus anatinus)
Mammalia SLC25A48 34
  • 8 (a)
(Gallus gallus)
Aves SLC25A48 34
  • 29 (a)
(Anolis carolinensis)
Reptilia SLC25A48 34
  • 34 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8530 33
(Danio rerio)
Actinopterygii slc25a48 34
  • 31 (a)
Dr.28307 33
fruit fly
(Drosophila melanogaster)
Insecta CG5646 34
  • 16 (a)
(Caenorhabditis elegans)
Secernentea R07B7.10 34
  • 18 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMC2 34
  • 16 (a)
YMC1 34
  • 14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 21 (a)
Species where no ortholog for SLC25A48 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for SLC25A48 Gene

Gene Tree for SLC25A48 (if available)
Gene Tree for SLC25A48 (if available)

Paralogs for SLC25A48 Gene

Paralogs for SLC25A48 Gene

(8) SIMAP similar genes for SLC25A48 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SLC25A48: view

Variants for SLC25A48 Gene

Sequence variations from dbSNP and Humsavar for SLC25A48 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000011934 -- 135,651,077(+) G/C genic_upstream_transcript_variant, intron_variant
rs1000025653 -- 135,776,274(+) G/A/C genic_upstream_transcript_variant, intron_variant
rs1000030070 -- 135,858,918(+) G/C genic_downstream_transcript_variant, intron_variant
rs1000035649 -- 135,803,529(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000040909 -- 135,786,299(+) G/ genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC25A48 Gene

Variant ID Type Subtype PubMed ID
dgv5812n100 CNV gain 25217958
esv2759380 CNV loss 17122850
esv3425060 CNV insertion 20981092
esv3570424 CNV loss 25503493
nsv1028952 CNV gain 25217958
nsv1032841 CNV gain 25217958
nsv508380 CNV deletion 20534489

Variation tolerance for SLC25A48 Gene

Residual Variation Intolerance Score: 68.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 26.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A48 Gene

Disorders for SLC25A48 Gene

Additional Disease Information for SLC25A48

No disorders were found for SLC25A48 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC25A48 Gene

Publications for SLC25A48 Gene

  1. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  3. The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PMID: 23266187) Palmieri F (Molecular aspects of medicine 2013) 3 58
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 58

Products for SLC25A48 Gene

Sources for SLC25A48 Gene

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