SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] See more...

Aliases for SLC25A40 Gene

Aliases for SLC25A40 Gene

  • Solute Carrier Family 25 Member 40 2 3 4 5
  • MCFP 2 3 4
  • Mitochondrial Carrier Family Protein 3 4
  • Solute Carrier Family 25, Member 40 2
  • SLC25A40 5

External Ids for SLC25A40 Gene

Previous GeneCards Identifiers for SLC25A40 Gene

  • GC07M087304
  • GC07M087462
  • GC07M082073

Summaries for SLC25A40 Gene

Entrez Gene Summary for SLC25A40 Gene

  • SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SLC25A40 Gene

SLC25A40 (Solute Carrier Family 25 Member 40) is a Protein Coding gene. Diseases associated with SLC25A40 include Myasthenic Syndrome, Congenital, 5. An important paralog of this gene is SLC25A39.

Additional gene information for SLC25A40 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A40 Gene

Genomics for SLC25A40 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC25A40 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
GH07J087873 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 606.6 -0.5 -492 6.5 SP1 CREB1 GATAD2A HNRNPL PRDM10 ZNF629 REST ZNF512 RFX1 LEF1 DBF4 SLC25A40 lnc-ABCB1-3 piR-59233 RUNDC3B ABCB4 ADAM22
GH07J087925 Enhancer 1 Ensembl ENCODE 12 -50.3 -50331 2.2 SP1 CTCF POLR2A BACH1 ZNF143 RELA ZIC2 TCF12 IKZF2 TRIM22 SLC25A40 DBF4 ADAM22
GH07J087627 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 5.6 +248.0 247960 3.2 SP1 ZNF692 BACH1 TARDBP FOXA1 LARP7 ZNF143 ZSCAN4 RBFOX2 POLR2A RUNDC3B DMTF1 SLC25A40 ABCB1 RF00994-1013 lnc-ABCB1-2
GH07J087598 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 5.8 +276.5 276461 3.2 HNRNPL GATAD2A PRDM10 REST TFE3 NFKBIZ RCOR2 BACH1 PRDM1 RBFOX2 ABCB1 RUNDC3B SLC25A40 SNODB1111 piR-37663-055 lnc-ABCB1-2 ABCB4
GH07J087850 Enhancer 0.5 Ensembl 17.7 +22.7 22659 4.6 PKNOX1 NFE2 DPF2 FOS ZBTB33 MTA2 SMARCE1 ZNF652 SLC25A40 DBF4 lnc-ABCB1-1 piR-59233 ABCB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A40 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A40

Top Transcription factor binding sites by QIAGEN in the SLC25A40 gene promoter:
  • AP-1
  • CREB
  • deltaCREB
  • Evi-1
  • GATA-1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • POU3F1
  • YY1

Genomic Locations for SLC25A40 Gene

Genomic Locations for SLC25A40 Gene
chr7:87,833,568-87,876,360
(GRCh38/hg38)
Size:
42,793 bases
Orientation:
Minus strand
chr7:87,462,883-87,505,692
(GRCh37/hg19)
Size:
42,810 bases
Orientation:
Minus strand

Genomic View for SLC25A40 Gene

Genes around SLC25A40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A40 Gene

Proteins for SLC25A40 Gene

  • Protein details for SLC25A40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBP6-S2540_HUMAN
    Recommended name:
    Solute carrier family 25 member 40
    Protein Accession:
    Q8TBP6
    Secondary Accessions:
    • A8K483
    • D6W5P6
    • Q53GB1
    • Q9UHR1

    Protein attributes for SLC25A40 Gene

    Size:
    338 amino acids
    Molecular mass:
    38125 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC25A40 Gene

Post-translational modifications for SLC25A40 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC25A40 Gene

No data available for DME Specific Peptides for SLC25A40 Gene

Domains & Families for SLC25A40 Gene

Gene Families for SLC25A40 Gene

Protein Domains for SLC25A40 Gene

Suggested Antigen Peptide Sequences for SLC25A40 Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial carrier family protein (S2540_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TBP6

UniProtKB/Swiss-Prot:

S2540_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 SLC25A40: view

Function for SLC25A40 Gene

Phenotypes From GWAS Catalog for SLC25A40 Gene

Gene Ontology (GO) - Molecular Function for SLC25A40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005347 ATP transmembrane transporter activity IEA --
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC25A40: view
genes like me logo Genes that share phenotypes with SLC25A40: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC25A40

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A40

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A40 Gene

Localization for SLC25A40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A40 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 SLC25A40 gene
Compartment Confidence
mitochondrion 4
plasma membrane 3
extracellular 2
peroxisome 2
cytosol 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC25A40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
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 SLC25A40: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC25A40 Gene

Pathways & Interactions for SLC25A40 Gene

PathCards logo

SuperPathways for SLC25A40 Gene

No Data Available

Interacting Proteins for SLC25A40 Gene

Gene Ontology (GO) - Biological Process for SLC25A40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015867 ATP transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC25A40: view

No data available for Pathways by source and SIGNOR curated interactions for SLC25A40 Gene

Drugs & Compounds for SLC25A40 Gene

No Compound Related Data Available

Transcripts for SLC25A40 Gene

mRNA/cDNA for SLC25A40 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A40

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A40 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: - -
SP2: -
SP3: - -
SP4:

Relevant External Links for SLC25A40 Gene

GeneLoc Exon Structure for
SLC25A40

Expression for SLC25A40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A40 Gene

Protein differential expression in normal tissues from HIPED for SLC25A40 Gene

This gene is overexpressed in Breast (9.5), Bone (7.1), and Stomach (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC25A40 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A40

SOURCE GeneReport for Unigene cluster for SLC25A40 Gene:

Hs.208414

Evidence on tissue expression from TISSUES for SLC25A40 Gene

  • Intestine(4.3)
  • Adrenal gland(4.3)
  • Nervous system(3)
  • Skin(2.3)
  • Muscle(2.2)
  • Kidney(2.1)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with SLC25A40: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A40 Gene

Orthologs for SLC25A40 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC25A40 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC25A40 30 31
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC25A40 30 31
  • 91.81 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC25A40 30 31
  • 91.42 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc25a40 30 17 31
  • 86.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc25a40 30
  • 84.03 (n)
Oppossum
(Monodelphis domestica)
Mammalia SLC25A40 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A40 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC25A40 30 31
  • 68.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC25A40 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc25a40 30
  • 64.24 (n)
MGC76123 30
Zebrafish
(Danio rerio)
Actinopterygii slc25a40 30 31
  • 63.58 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001297 30
  • 51.24 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Shawn 30 31
  • 50.83 (n)
ManyToMany
CG2616 31
  • 33 (a)
ManyToMany
Tyler 31
  • 29 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea CELE_C16C10.1 30
  • 54.47 (n)
C16C10.1 31
  • 45 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MTM1 30 31
  • 49.56 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09383g 30
  • 49.46 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR131C 30
  • 48.24 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G46320 30
  • 44.69 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU07478 30
  • 47.33 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBP23A10.06 30
  • 45.8 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2166 30
Species where no ortholog for SLC25A40 was found in the sources mined by GeneCards:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 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 SLC25A40 Gene

ENSEMBL:
Gene Tree for SLC25A40 (if available)
TreeFam:
Gene Tree for SLC25A40 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A40: view image

Paralogs for SLC25A40 Gene

Variants for SLC25A40 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A40 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs200954020 - p.Ser105Asn
rs3213633 - p.Lys186Gln
rs724665 - p.Thr123Ile

Additional dbSNP identifiers (rs#s) for SLC25A40 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC25A40 Gene

Variant ID Type Subtype PubMed ID
esv2734777 CNV deletion 23290073
nsv464622 CNV gain 19166990
nsv607725 CNV gain 21841781

Variation tolerance for SLC25A40 Gene

Residual Variation Intolerance Score: 60% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A40 Gene

Human Gene Mutation Database (HGMD)
SLC25A40
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A40

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A40 Gene

Disorders for SLC25A40 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC25A40 Gene - From: DISEASES

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 5
  • cms5
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC25A40

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SLC25A40: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC25A40 Gene

Publications for SLC25A40 Gene

  1. 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
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4
  4. 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
  5. Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer. (PMID: 28294470) Tode N … Ichinose M (Cancer science 2017) 4

Products for SLC25A40 Gene

Sources for SLC25A40 Gene