SLC25A32
gene geneOn this page
Also known as MFTC
Summary
SLC25A32 (solute carrier family 25 member 32, HGNC:29683) is a protein-coding gene on chromosome 8q22.3, encoding Solute carrier family 25 member 32 (Q9H2D1). Facilitates flavin adenine dinucleotide (FAD) translocation across the mitochondrial inner membrane into the mitochondrial matrix where it acts as a redox cofactor to assist flavoenzyme activities in fundamental metabolic processes including fatty acid beta-oxidation, amino acid….
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.
Source: NCBI Gene 81034 — RefSeq curated summary.
At a glance
- Gene–disease (curated): exercise intolerance, riboflavin-responsive (Strong, GenCC)
- Clinical variants (ClinVar): 260 total
- Phenotypes (HPO): 3
- MANE Select transcript:
NM_030780
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29683 |
| Approved symbol | SLC25A32 |
| Name | solute carrier family 25 member 32 |
| Location | 8q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MFTC |
| Ensembl gene | ENSG00000164933 |
| Ensembl biotype | protein_coding |
| OMIM | 138480 |
| Entrez | 81034 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 nonsense_mediated_decay, 2 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000297578, ENST00000521645, ENST00000523256, ENST00000523701, ENST00000523866, ENST00000707124
RefSeq mRNA: 1 — MANE Select: NM_030780
NM_030780
CCDS: CCDS6300
Canonical transcript exons
ENST00000297578 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001088754 | 103404776 | 103404861 |
| ENSE00002094549 | 103414784 | 103415107 |
| ENSE00003472032 | 103401941 | 103402054 |
| ENSE00003477724 | 103403164 | 103403324 |
| ENSE00003496913 | 103407634 | 103407784 |
| ENSE00003618359 | 103401516 | 103401661 |
| ENSE00003637630 | 103398638 | 103400546 |
Expression profiles
Bgee: expression breadth ubiquitous, 135 present calls, max score 90.19.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.2012 / max 224.4358, expressed in 1822 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 94334 | 36.6500 | 1820 |
| 94333 | 2.5770 | 1349 |
| 94335 | 0.4970 | 255 |
| 94336 | 0.4771 | 247 |
Top tissues by expression
135 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 90.19 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.95 | gold quality |
| lymph node | UBERON:0000029 | 87.89 | gold quality |
| stromal cell of endometrium | CL:0002255 | 87.60 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.54 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 87.49 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 87.04 | gold quality |
| adipose tissue | UBERON:0001013 | 86.99 | gold quality |
| omental fat pad | UBERON:0010414 | 86.92 | gold quality |
| popliteal artery | UBERON:0002250 | 86.66 | gold quality |
| tibial artery | UBERON:0007610 | 86.66 | gold quality |
| vermiform appendix | UBERON:0001154 | 86.59 | gold quality |
| left uterine tube | UBERON:0001303 | 86.21 | gold quality |
| ascending aorta | UBERON:0001496 | 85.92 | gold quality |
| thoracic aorta | UBERON:0001515 | 85.92 | gold quality |
| left coronary artery | UBERON:0001626 | 85.88 | gold quality |
| endometrium | UBERON:0001295 | 85.51 | gold quality |
| left ovary | UBERON:0002119 | 85.24 | gold quality |
| right ovary | UBERON:0002118 | 85.17 | gold quality |
| mammary gland | UBERON:0001911 | 85.16 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 85.16 | gold quality |
| ovary | UBERON:0000992 | 85.01 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 85.01 | gold quality |
| endocervix | UBERON:0000458 | 85.00 | gold quality |
| body of uterus | UBERON:0009853 | 84.89 | gold quality |
| corpus callosum | UBERON:0002336 | 84.66 | gold quality |
| right coronary artery | UBERON:0001625 | 84.61 | gold quality |
| gall bladder | UBERON:0002110 | 84.31 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 84.29 | gold quality |
| ectocervix | UBERON:0012249 | 84.19 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.09 |
| E-CURD-10 | no | 231.79 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
117 targeting SLC25A32, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
Literature-anchored findings (GeneRIF, showing 8)
- Patient with SLC25A32 deficiency was able to have a successful pregnancy after fertilization in vitro. (PMID:19362304)
- identified residues in the walls and at the base of the transport cavity that are involved in substrate recognition by the MFT (PMID:21768094)
- Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
- SLC25A32 gene polymorphism could be a risk factor for lower folate concentration and future fracture. (PMID:24354357)
- A novel SLC25A32 homozygous variant is associated with severe neuromuscular phenotype. (PMID:28443623)
- These data demonstrate that the loss of functional Slc25a32 results in cranial neural tube defects (NTDs) in mice and has also been observed in a human NTD patient. (PMID:29666258)
- Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency. (PMID:34764427)
- SLC25A32 promotes malignant progression of glioblastoma by activating PI3K-AKT signaling pathway. (PMID:37365560)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc25a32b | ENSDARG00000026835 |
| danio_rerio | slc25a32a | ENSDARG00000089791 |
| mus_musculus | Slc25a32 | ENSMUSG00000022299 |
| rattus_norvegicus | Slc25a32 | ENSRNOG00000004403 |
| drosophila_melanogaster | CG8026 | FBGN0033391 |
| caenorhabditis_elegans | WBGENE00010459 |
Paralogs (49): SLC25A13 (ENSG00000004864), SLC25A5 (ENSG00000005022), SLC25A39 (ENSG00000013306), SLC25A40 (ENSG00000075303), SLC25A3 (ENSG00000075415), SLC25A43 (ENSG00000077713), SLC25A24 (ENSG00000085491), SLC25A1 (ENSG00000100075), SLC25A17 (ENSG00000100372), SLC25A14 (ENSG00000102078), SLC25A15 (ENSG00000102743), SLC25A11 (ENSG00000108528), UCP1 (ENSG00000109424), SLC25A36 (ENSG00000114120), SLC25A12 (ENSG00000115840), SLC25A2 (ENSG00000120329), SLC25A51 (ENSG00000122696), SLC25A16 (ENSG00000122912), SLC25A35 (ENSG00000125434), SLC25A19 (ENSG00000125454), SLC25A23 (ENSG00000125648), SLC25A47 (ENSG00000140107), SLC25A52 (ENSG00000141437), SLC25A38 (ENSG00000144659), SLC25A26 (ENSG00000144741), SLC25A48 (ENSG00000145832), SLC25A37 (ENSG00000147454), SLC25A25 (ENSG00000148339), SLC25A31 (ENSG00000151475), SLC25A4 (ENSG00000151729), SLC25A27 (ENSG00000153291), SLC25A28 (ENSG00000155287), SLC25A44 (ENSG00000160785), SLC25A45 (ENSG00000162241), SLC25A34 (ENSG00000162461), SLC25A6 (ENSG00000169100), SLC25A33 (ENSG00000171612), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564), UCP2 (ENSG00000175567)
Protein
Protein identifiers
Solute carrier family 25 member 32 — Q9H2D1 (reviewed: Q9H2D1)
Alternative names: Mitochondrial FAD transporter
All UniProt accessions (5): A0A9L9PY70, E5RFL3, E5RGK5, E5RGT9, Q9H2D1
UniProt curated annotations — full annotation on UniProt →
Function. Facilitates flavin adenine dinucleotide (FAD) translocation across the mitochondrial inner membrane into the mitochondrial matrix where it acts as a redox cofactor to assist flavoenzyme activities in fundamental metabolic processes including fatty acid beta-oxidation, amino acid and choline metabolism as well as mitochondrial electron transportation. In particular, provides FAD to DLD dehydrogenase of the glycine cleavage system, part of mitochondrial one-carbon metabolic pathway involved in neural tube closure in early embryogenesis.
Subcellular location. Mitochondrion inner membrane.
Tissue specificity. Ubiquitous.
Disease relevance. 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. The disease is caused by variants affecting the gene represented in this entry. Neural tube defects (NTD) [MIM:182940] Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. Disease susceptibility is associated with variants affecting the gene represented in this entry.
Similarity. Belongs to the mitochondrial carrier (TC 2.A.29) family.
RefSeq proteins (1): NP_110407* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002067 | MCP | Family |
| IPR018108 | MCP_transmembrane | Repeat |
| IPR023395 | MCP_dom_sf | Homologous_superfamily |
| IPR044712 | SLC25A32-like | Family |
Pfam: PF00153
Catalyzed reactions (Rhea), 1 shown:
- FAD(in) = FAD(out) (RHEA:76535)
UniProt features (20 total): sequence variant 9, transmembrane region 6, repeat 3, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H2D1-F1 | 85.58 | 0.54 |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-196757 | Metabolism of folate and pterines |
| R-HSA-1430728 | Metabolism |
| R-HSA-196849 | Metabolism of water-soluble vitamins and cofactors |
| R-HSA-196854 | Metabolism of vitamins and cofactors |
MSigDB gene sets: 183 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE45365_NK_CELL_VS_BCELL_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_MODIFIED_AMINO_ACID_TRANSPORT, GOBP_NUCLEOTIDE_TRANSPORT, GOBP_DICARBOXYLIC_ACID_METABOLIC_PROCESS, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, ONKEN_UVEAL_MELANOMA_UP, MODULE_239, GOBP_PTERIDINE_CONTAINING_COMPOUND_METABOLIC_PROCESS, MYCMAX_01
GO Biological Process (8): folic acid metabolic process (GO:0046655), transmembrane transport (GO:0055085), mitochondrial FAD transmembrane transport (GO:1990548), nucleotide transport (GO:0006862), obsolete organic anion transport (GO:0015711), folic acid transport (GO:0015884), nucleotide transmembrane transport (GO:1901679), mitochondrial transmembrane transport (GO:1990542)
GO Molecular Function (3): folic acid transmembrane transporter activity (GO:0008517), FAD transmembrane transporter activity (GO:0015230), nucleotide transmembrane transporter activity (GO:0015215)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Metabolism of water-soluble vitamins and cofactors | 1 |
| Metabolism of vitamins and cofactors | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| FAD transmembrane transport | 2 |
| transmembrane transport | 2 |
| folic acid-containing compound metabolic process | 1 |
| dicarboxylic acid metabolic process | 1 |
| transport | 1 |
| cellular process | 1 |
| organophosphate ester transport | 1 |
| nucleobase-containing compound transport | 1 |
| dicarboxylic acid transport | 1 |
| vitamin transport | 1 |
| modified amino acid transport | 1 |
| nucleotide transport | 1 |
| mitochondrial transport | 1 |
| dicarboxylic acid transmembrane transporter activity | 1 |
| folic acid transport | 1 |
| modified amino acid transmembrane transporter activity | 1 |
| vitamin transmembrane transporter activity | 1 |
| nucleotide transmembrane transporter activity | 1 |
| organophosphate ester transmembrane transporter activity | 1 |
| nucleobase-containing compound transmembrane transporter activity | 1 |
| nucleotide transmembrane transport | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
810 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC25A32 | MTCH1 | Q9NZJ7 | 772 |
| SLC25A32 | FLAD1 | Q8NFF5 | 761 |
| SLC25A32 | MTHFD1L | Q6UB35 | 676 |
| SLC25A32 | ETFDH | Q16134 | 643 |
| SLC25A32 | SLC25A51 | Q9H1U9 | 637 |
| SLC25A32 | SLC52A1 | Q9NWF4 | 637 |
| SLC25A32 | SLC25A52 | Q3SY17 | 632 |
| SLC25A32 | SLC25A53 | Q5H9E4 | 605 |
| SLC25A32 | GLDC | P23378 | 595 |
| SLC25A32 | SLC52A2 | Q9HAB3 | 595 |
| SLC25A32 | SLC52A3 | Q9NQ40 | 592 |
| SLC25A32 | RFK | Q969G6 | 575 |
| SLC25A32 | MTHFD2L | Q9H903 | 570 |
| SLC25A32 | MTHFD1 | P11586 | 550 |
| SLC25A32 | SLC46A1 | Q96NT5 | 530 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IMPDH1 | BCAT2 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC25A32 | NEDD8-MDP1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC25A32 | AKR1A1 | psi-mi:“MI:0914”(association) | 0.350 |
| IMPDH1 | MGST3 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC25A32 | CRYAB | psi-mi:“MI:0914”(association) | 0.350 |
| AURKB | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJB2 | psi-mi:“MI:0914”(association) | 0.350 | |
| GSDME | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| PIM1 | IDH3B | psi-mi:“MI:0914”(association) | 0.350 |
| SLC18A2 | MGST3 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC25A32 | CS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (90): PLS1 (Affinity Capture-MS), NEDD8-MDP1 (Affinity Capture-MS), PMVK (Affinity Capture-MS), LASP1 (Affinity Capture-MS), CCDC25 (Affinity Capture-MS), UBE2T (Affinity Capture-MS), PICALM (Affinity Capture-MS), NIPSNAP3A (Affinity Capture-MS), CTH (Affinity Capture-MS), TCEA1 (Affinity Capture-MS), DENR (Affinity Capture-MS), PROSC (Affinity Capture-MS), CBFB (Affinity Capture-MS), SLC25A32 (Co-fractionation), SLC25A32 (Co-fractionation)
ESM2 similar proteins: A0A0G2K5L2, A0JN87, G3XP90, G3YAF3, O22261, O77792, O95847, O97562, P55851, P55916, P56500, P70406, Q08DK4, Q1LZB3, Q29RM1, Q3SZI5, Q3TZX3, Q4V9P0, Q505J6, Q5IS35, Q5NVC1, Q5R5A8, Q5RD81, Q5RFB7, Q5ZKP7, Q641C8, Q6DG32, Q6IZB5, Q6P036, Q7K566, Q8BMG8, Q8BZ09, Q922G0, Q95J75, Q96CQ1, Q99JD3, Q9BQT8, Q9BSK2, Q9C5M0, Q9D6D0
Diamond homologs: A0A1D6N272, A1DI57, A2A3V2, A2ASZ8, A2CEQ0, A5PJZ1, B0G159, B4F8I5, B4FIJ0, B8ZHC9, F1LX07, F4HW79, F4JU70, K7VYZ9, O04619, O18757, O65023, O75746, O81845, O94502, O97649, P04710, P05141, P0C546, P0CI40, P12235, P12857, P16260, P16261, P25083, P29518, P31167, P31691, P40941, P48962, P55916, Q01888, Q05AQ3, Q0II44, Q0P483
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
260 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 127 |
| Likely benign | 81 |
| Benign | 33 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
940 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:103401934:ATCTT:A | donor_loss | 1.0000 |
| 8:103401937:TTACC:T | donor_loss | 1.0000 |
| 8:103401939:A:AC | donor_gain | 1.0000 |
| 8:103401939:A:C | donor_loss | 1.0000 |
| 8:103401940:C:CC | donor_gain | 1.0000 |
| 8:103401940:CCAA:C | donor_gain | 1.0000 |
| 8:103401943:A:AC | donor_gain | 1.0000 |
| 8:103401944:C:CC | donor_gain | 1.0000 |
| 8:103402050:AATCC:A | acceptor_gain | 1.0000 |
| 8:103402052:TCC:T | acceptor_gain | 1.0000 |
| 8:103402053:CC:C | acceptor_gain | 1.0000 |
| 8:103402053:CCC:C | acceptor_gain | 1.0000 |
| 8:103402054:CC:C | acceptor_gain | 1.0000 |
| 8:103403221:T:A | donor_gain | 1.0000 |
| 8:103404770:CCTTA:C | donor_loss | 1.0000 |
| 8:103404771:CTT:C | donor_loss | 1.0000 |
| 8:103404772:TTA:T | donor_loss | 1.0000 |
| 8:103404773:TA:T | donor_loss | 1.0000 |
| 8:103404774:ACCA:A | donor_loss | 1.0000 |
| 8:103404775:CCAG:C | donor_gain | 1.0000 |
| 8:103404857:TGTAA:T | acceptor_gain | 1.0000 |
| 8:103404859:TAA:T | acceptor_gain | 1.0000 |
| 8:103404862:C:CC | acceptor_gain | 1.0000 |
| 8:103407632:A:AC | donor_gain | 1.0000 |
| 8:103407633:C:CC | donor_gain | 1.0000 |
| 8:103407688:C:CA | donor_gain | 1.0000 |
| 8:103407781:CTCA:C | acceptor_gain | 1.0000 |
| 8:103407782:TCA:T | acceptor_gain | 1.0000 |
| 8:103407783:CA:C | acceptor_gain | 1.0000 |
| 8:103407783:CAC:C | acceptor_gain | 1.0000 |
AlphaMissense
2017 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:103400518:C:G | G281R | 0.999 |
| 8:103400518:C:T | G281R | 0.999 |
| 8:103401573:A:G | L252P | 0.999 |
| 8:103402053:C:T | G185E | 0.999 |
| 8:103402054:C:G | G185R | 0.999 |
| 8:103402054:C:T | G185R | 0.999 |
| 8:103403281:T:A | K145N | 0.999 |
| 8:103403281:T:G | K145N | 0.999 |
| 8:103403282:T:A | K145I | 0.999 |
| 8:103403299:G:C | N139K | 0.999 |
| 8:103403299:G:T | N139K | 0.999 |
| 8:103400479:A:G | C294R | 0.998 |
| 8:103400517:C:T | G281E | 0.998 |
| 8:103401576:C:G | R251P | 0.998 |
| 8:103401615:G:T | A238D | 0.998 |
| 8:103402008:A:G | F200S | 0.998 |
| 8:103403276:C:G | R147P | 0.998 |
| 8:103404779:C:G | A130P | 0.998 |
| 8:103404787:G:T | A127D | 0.998 |
| 8:103407688:C:T | G84E | 0.998 |
| 8:103407689:C:G | G84R | 0.998 |
| 8:103407689:C:T | G84R | 0.998 |
| 8:103401569:C:A | Q253H | 0.997 |
| 8:103401569:C:G | Q253H | 0.997 |
| 8:103401577:G:T | R251S | 0.997 |
| 8:103401597:G:T | P244Q | 0.997 |
| 8:103403273:A:G | L148P | 0.997 |
| 8:103403292:A:G | W142R | 0.997 |
| 8:103403292:A:T | W142R | 0.997 |
| 8:103404778:G:T | A130D | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000408848 (8:103406248 T>C), RS1000422463 (8:103413688 GT>G,GTT), RS1000526592 (8:103399467 A>T), RS1000782927 (8:103412465 T>C), RS1000802655 (8:103402965 T>C), RS1001287819 (8:103412224 T>C), RS1001474206 (8:103400115 A>G), RS1001526432 (8:103400314 G>A,T), RS1002090170 (8:103412335 G>A), RS1002130053 (8:103406739 T>A), RS1002291817 (8:103400132 T>C), RS1002438128 (8:103406291 C>T), RS1002733936 (8:103407974 A>G,T), RS1002755886 (8:103409594 C>T), RS1002811824 (8:103409852 G>A)
Disease associations
OMIM: gene MIM:138480 | disease phenotypes: MIM:616839
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| exercise intolerance, riboflavin-responsive | Strong | Autosomal recessive |
Mondo (2): prostate cancer (MONDO:0008315), exercise intolerance, riboflavin-responsive (MONDO:0014795)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
3 total (3 of 3 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003200 | Ragged-red muscle fibers |
| HP:0003546 | Exercise intolerance |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC25 mitochondrial vitamin and co-factor carriers subfamily
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects expression, decreases methylation | 3 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance | 2 |
| Estradiol | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| alpha-pinene | decreases expression, increases abundance, affects cotreatment | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Valsartan | decreases reaction, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Dexamethasone | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Ozone | decreases expression, increases abundance, affects cotreatment | 1 |
| Plant Extracts | increases expression, affects cotreatment | 1 |
| Smoke | decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Dronabinol | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 3 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3H7 | Abcam HEK293T SLC25A32 KO | Transformed cell line | Female |
| CVCL_D4JV | HCT116-SLC25A32-KO-c1 | Cancer cell line | Male |
| CVCL_D4JW | HCT116-SLC25A32-KO-c5 | Cancer cell line | Male |
| CVCL_TM33 | HAP1 SLC25A32 (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Associated diseases: exercise intolerance, riboflavin-responsive
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): exercise intolerance, riboflavin-responsive