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Aliases for SLC25A40 Gene

Aliases for SLC25A40 Gene

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

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. An important paralog of this gene is SLC25A39.

Additional gene information for SLC25A40 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A40 Gene

Genomics for SLC25A40 Gene

GeneHancer (GH) Regulatory Elements for SLC25A40 Gene

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
GH07I087873 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 556.7 -0.5 -511 6.4 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B CBX5 ZNF213 SLC25A40 DBF4 PIR53232 TMEM243 RUNDC3B ABCB4 ADAM22
GH07I087598 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 5.8 +276.5 276478 3.2 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B FEZF1 DMAP1 YBX1 ZNF2 ABCB1 RUNDC3B SLC25A40 GC07P087616 GC07P087522
GH07I087627 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 5.6 +247.7 247744 1.8 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 GLIS2 ZNF143 SP3 RXRA SP5 RUNDC3B DMTF1 SLC25A40 GC07P087616 GC07M087698 ABCB1
GH07I087925 Enhancer 0.8 ENCODE 12 -50.3 -50314 2.2 HDGF PKNOX1 SMAD1 RB1 NFIB FEZF1 YBX1 BATF IRF4 RAD21 DBF4 SLC25A40 ADAM22
GH07I087568 Enhancer 0.6 ENCODE 6.1 +307.2 307206 1.4 RXRA ZNF384 RARA YY1 JUND HNF1A HNF4A NR2F6 SMAD4 RUNDC3B SLC25A40 GC07P087522 GC07P087616 ABCB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC25A40 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC25A40 gene promoter:

Genomic Locations for SLC25A40 Gene

Genomic Locations for SLC25A40 Gene
chr7:87,833,568-87,876,377
(GRCh38/hg38)
Size:
42,810 bases
Orientation:
Minus strand
chr7:87,462,883-87,505,692
(GRCh37/hg19)

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

No Post-translational modifications

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

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

Protein Domains for SLC25A40 Gene

Suggested Antigen Peptide Sequences for SLC25A40 Gene

GenScript: Design optimal peptide antigens:

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:0022857 transmembrane transporter activity IBA --
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

Clone Products

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 2
peroxisome 2
extracellular 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC25A40 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 SLC25A40: view

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

Pathways & Interactions for SLC25A40 Gene

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:0006810 transport IEA --
GO:0006839 mitochondrial transport IBA --
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

Unigene Clusters for SLC25A40 Gene

Solute carrier family 25, member 40:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
SLC25A40

Expression for SLC25A40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SLC25A40 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC25A40 Gene:

SLC25A40

SOURCE GeneReport for Unigene cluster for SLC25A40 Gene:

Hs.208414

Evidence on tissue expression from TISSUES for SLC25A40 Gene

  • Adrenal gland(4.2)
  • Intestine(4.2)
  • Nervous system(2.5)
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 33 34
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia SLC25A40 33 34
  • 91.81 (n)
cow
(Bos Taurus)
Mammalia SLC25A40 33 34
  • 91.42 (n)
mouse
(Mus musculus)
Mammalia Slc25a40 33 16 34
  • 86.61 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a40 33
  • 84.03 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC25A40 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A40 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A40 33 34
  • 68.97 (n)
lizard
(Anolis carolinensis)
Reptilia SLC25A40 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a40 33
  • 64.24 (n)
MGC76123 33
zebrafish
(Danio rerio)
Actinopterygii slc25a40 33 34
  • 63.58 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001297 33
  • 51.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta Shawn 33 34
  • 50.83 (n)
CG2616 34
  • 33 (a)
ManyToMany
Tyler 34
  • 29 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_C16C10.1 33
  • 54.47 (n)
C16C10.1 34
  • 45 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MTM1 33 34
  • 49.56 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09383g 33
  • 49.46 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR131C 33
  • 48.24 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G46320 33
  • 44.69 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07478 33
  • 47.33 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBP23A10.06 33
  • 45.8 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2166 33
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)

Paralogs for SLC25A40 Gene

Paralogs for SLC25A40 Gene

(1) SIMAP similar genes for SLC25A40 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SLC25A40: view

Variants for SLC25A40 Gene

Sequence variations from dbSNP and Humsavar for SLC25A40 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000021832 -- 87,867,704(-) G/A intron_variant
rs1000090361 -- 87,856,550(-) G/A intron_variant
rs1000161306 -- 87,836,325(-) C/G coding_sequence_variant, missense_variant
rs1000161466 -- 87,862,369(-) G/A intron_variant
rs1000203144 -- 87,876,477(-) C/T upstream_transcript_variant

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

Additional Disease Information for SLC25A40

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SLC25A40 Gene.

No data available for MalaCards , 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 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58
  4. 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 58
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4 58

Products for SLC25A40 Gene

Sources for SLC25A40 Gene

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