Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC25A32 Gene

Aliases for SLC25A32 Gene

  • Solute Carrier Family 25 Member 32 2 3 4 5
  • Solute Carrier Family 25 (Mitochondrial Folate Carrier), Member 32 2 3
  • MFTC 3 4
  • MFT 3 4
  • Mitochondrial Folate Transporter/Carrier 3
  • Solute Carrier Family 25, Member 32 2
  • RREI 3

External Ids for SLC25A32 Gene

Previous GeneCards Identifiers for SLC25A32 Gene

  • GC08M104481
  • GC08M099611
  • GC08M104410

Summaries for SLC25A32 Gene

Entrez Gene Summary for SLC25A32 Gene

  • This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]

GeneCards Summary for SLC25A32 Gene

SLC25A32 (Solute Carrier Family 25 Member 32) is a Protein Coding gene. Diseases associated with SLC25A32 include Exercise Intolerance, Riboflavin-Responsive and Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include folic acid transmembrane transporter activity. An important paralog of this gene is SLC25A17.

UniProtKB/Swiss-Prot for SLC25A32 Gene

  • Transports folate across the inner membranes of mitochondria.

Additional gene information for SLC25A32 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A32 Gene

Genomics for SLC25A32 Gene

GeneHancer (GH) Regulatory Elements for SLC25A32 Gene

Promoters and enhancers for SLC25A32 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
GH08I103413 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.1 139 3.2 CLOCK MLX ZFP64 DMAP1 YY1 E2F8 ZNF143 SP3 MEF2D ZNF610 DCAF13 SLC25A32 FZD6
GH08I103020 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.2 +394.2 394179 2.2 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 ATP6V1C1 ENSG00000254236 UBR5 FZD6 KLF10 SLC25A32 AZIN1
GH08I103498 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.4 -85.0 -85045 4.2 PKNOX1 SIN3A FEZF1 GLI4 ZNF2 ZBTB7B IRF4 ZNF121 GLIS2 ELK1 RIMS2 LOC105375690 SLC25A32 ENSG00000271830
GH08I102803 Promoter/Enhancer 1.9 Ensembl ENCODE dbSUPER 12.1 +607.6 607573 7.6 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 UBR5 ENSG00000272037 KLF10 FZD6 SLC25A32 DCAF13 GASAL1 AZIN1 ENSG00000253385
GH08I102792 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.2 +621.0 621016 3.8 NFIB BATF IRF4 ZNF48 ZNF548 ETV6 IKZF2 RUNX3 SP5 JUNB GC08P102794 UBR5 SLC25A32 ENSG00000272037 AZIN1 GASAL1 ADI1P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC25A32 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC25A32 gene promoter:

Genomic Locations for SLC25A32 Gene

Genomic Locations for SLC25A32 Gene
chr8:103,398,635-103,415,335
(GRCh38/hg38)
Size:
16,701 bases
Orientation:
Minus strand
chr8:104,410,863-104,427,468
(GRCh37/hg19)

Genomic View for SLC25A32 Gene

Genes around SLC25A32 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A32 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A32 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A32 Gene

Proteins for SLC25A32 Gene

  • Protein details for SLC25A32 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2D1-MFTC_HUMAN
    Recommended name:
    Mitochondrial folate transporter/carrier
    Protein Accession:
    Q9H2D1
    Secondary Accessions:
    • Q96JZ6
    • Q96SU7

    Protein attributes for SLC25A32 Gene

    Size:
    315 amino acids
    Molecular mass:
    35407 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC25A32 Gene

Post-translational modifications for SLC25A32 Gene

No Post-translational modifications

Other Protein References for SLC25A32 Gene

No data available for DME Specific Peptides for SLC25A32 Gene

Domains & Families for SLC25A32 Gene

Gene Families for SLC25A32 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for SLC25A32 Gene

Suggested Antigen Peptide Sequences for SLC25A32 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H2D1

UniProtKB/Swiss-Prot:

MFTC_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 SLC25A32: view

Function for SLC25A32 Gene

Molecular function for SLC25A32 Gene

UniProtKB/Swiss-Prot Function:
Transports folate across the inner membranes of mitochondria.

Phenotypes From GWAS Catalog for SLC25A32 Gene

Gene Ontology (GO) - Molecular Function for SLC25A32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008517 folic acid transmembrane transporter activity TAS --
GO:0015230 FAD transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with SLC25A32: view
genes like me logo Genes that share phenotypes with SLC25A32: view

Human Phenotype Ontology for SLC25A32 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for SLC25A32 Gene

miRTarBase miRNAs that target SLC25A32

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A32 Gene

Localization for SLC25A32 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A32 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 SLC25A32 gene
Compartment Confidence
mitochondrion 5
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC25A32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 21956163
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA,IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with SLC25A32: view

Pathways & Interactions for SLC25A32 Gene

genes like me logo Genes that share pathways with SLC25A32: view

Gene Ontology (GO) - Biological Process for SLC25A32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006544 glycine metabolic process ISS --
GO:0006810 transport IEA --
GO:0006839 mitochondrial transport IBA --
GO:0015884 folic acid transport NAS 10978331
GO:0035350 FAD transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC25A32: view

No data available for SIGNOR curated interactions for SLC25A32 Gene

Drugs & Compounds for SLC25A32 Gene

(1) Drugs for SLC25A32 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Folic Acid Approved, Vet_approved Nutra Transporter, substrate 4610
genes like me logo Genes that share compounds with SLC25A32: view

Transcripts for SLC25A32 Gene

Unigene Clusters for SLC25A32 Gene

Solute carrier family 25 (mitochondrial folate carrier), member 32:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A32 Gene

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

Relevant External Links for SLC25A32 Gene

GeneLoc Exon Structure for
SLC25A32
ECgene alternative splicing isoforms for
SLC25A32

Expression for SLC25A32 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC25A32 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC25A32 Gene

This gene is overexpressed in Breast (51.2) and Lung (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC25A32 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC25A32 Gene:

SLC25A32

SOURCE GeneReport for Unigene cluster for SLC25A32 Gene:

Hs.607819

mRNA Expression by UniProt/SwissProt for SLC25A32 Gene:

Q9H2D1-MFTC_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for SLC25A32 Gene

  • Nervous system(3.8)
genes like me logo Genes that share expression patterns with SLC25A32: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A32 Gene

Orthologs for SLC25A32 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC25A32 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC25A32 33 34
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia SLC25A32 33 34
  • 92.64 (n)
cow
(Bos Taurus)
Mammalia SLC25A32 33 34
  • 91.35 (n)
mouse
(Mus musculus)
Mammalia Slc25a32 33 16 34
  • 88.96 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a32 33
  • 88.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A32 34
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 84 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves SLC25A32 33 34
  • 74.92 (n)
lizard
(Anolis carolinensis)
Reptilia SLC25A32 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a32 33
  • 68.51 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15550 33
zebrafish
(Danio rerio)
Actinopterygii slc25a32b 33 34
  • 66.01 (n)
slc25a32a 34
  • 61 (a)
OneToMany
zgc55610 33
fruit fly
(Drosophila melanogaster)
Insecta CG8026 33 34
  • 57.4 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007653 33
  • 55.09 (n)
worm
(Caenorhabditis elegans)
Secernentea K01C8.7 33 34
  • 50.83 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F04697g 33
  • 49.45 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FLX1 33
  • 47.53 (n)
YEA6 34
  • 30 (a)
ManyToMany
YIA6 34 36
  • 27 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER366W 33
  • 47.52 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons FOLT1 33
  • 51 (n)
rice
(Oryza sativa)
Liliopsida Os03g0734700 33
  • 52.7 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC27B12.09c 33
  • 48.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04180 33
  • 46.81 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.124 33
Species where no ortholog for SLC25A32 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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 SLC25A32 Gene

ENSEMBL:
Gene Tree for SLC25A32 (if available)
TreeFam:
Gene Tree for SLC25A32 (if available)

Paralogs for SLC25A32 Gene

Paralogs for SLC25A32 Gene

(6) SIMAP similar genes for SLC25A32 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SLC25A32: view

Variants for SLC25A32 Gene

Sequence variations from dbSNP and Humsavar for SLC25A32 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs142329098 pathogenic, Exercise intolerance, riboflavin-responsive, Exercise intolerance, riboflavin-responsive (RREI) [MIM:616839] 103,403,276(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs147014855 pathogenic, Exercise intolerance, riboflavin-responsive 103,403,291(-) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs864622028 uncertain-significance, Malignant tumor of prostate 103,403,168(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000408848 -- 103,406,248(-) T/C intron_variant
rs1000422463 -- 103,413,689(-) TTTTTT/TTTTT/TTTTTTT intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC25A32 Gene

Variant ID Type Subtype PubMed ID
nsv611832 CNV loss 21841781
esv3618251 CNV loss 21293372
esv3618250 CNV loss 21293372
esv2672690 CNV deletion 23128226
esv2663185 CNV deletion 23128226
dgv7279n100 CNV gain 25217958

Variation tolerance for SLC25A32 Gene

Residual Variation Intolerance Score: 42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.00; 60.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A32 Gene

Human Gene Mutation Database (HGMD)
SLC25A32
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A32

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A32 Gene

Disorders for SLC25A32 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC25A32 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MFTC_HUMAN
  • Exercise intolerance, riboflavin-responsive (RREI) [MIM:616839]: A riboflavin-responsive form of exercise intolerance, a condition characterized by failure to maintain an expected level of force during sustained or repeated muscle contraction, resulting in an overwhelming sense of tiredness, lack of energy and feeling of exhaustion. RREI transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:26933868}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC25A32

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 SLC25A32: view

No data available for Genatlas for SLC25A32 Gene

Publications for SLC25A32 Gene

  1. Retrovirally mediated complementation of the glyB phenotype. Cloning of a human gene encoding the carrier for entry of folates into mitochondria. (PMID: 10978331) Titus SA … Moran RG (The Journal of biological chemistry 2000) 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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 58
  5. A mutation inactivating the mitochondrial inner membrane folate transporter creates a glycine requirement for survival of chinese hamster cells. (PMID: 15140890) McCarthy EA … Moran RG (The Journal of biological chemistry 2004) 3 22 58

Products for SLC25A32 Gene

Sources for SLC25A32 Gene

Content
Loading form....