SLC25A40
gene geneOn this page
Also known as MCFP
Summary
SLC25A40 (solute carrier family 25 member 40, HGNC:29680) is a protein-coding gene on chromosome 7q21.12, encoding Mitochondrial glutathione transporter SLC25A40 (Q8TBP6). Probable mitochondrial transporter required for glutathione import into mitochondria.
SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).
Source: NCBI Gene 55972 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 48 total
- MANE Select transcript:
NM_018843
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29680 |
| Approved symbol | SLC25A40 |
| Name | solute carrier family 25 member 40 |
| Location | 7q21.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MCFP |
| Ensembl gene | ENSG00000075303 |
| Ensembl biotype | protein_coding |
| OMIM | 610821 |
| Entrez | 55972 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 17 protein_coding, 4 retained_intron, 3 nonsense_mediated_decay
ENST00000341119, ENST00000429674, ENST00000444363, ENST00000446236, ENST00000470328, ENST00000483810, ENST00000491499, ENST00000496348, ENST00000853625, ENST00000853626, ENST00000853627, ENST00000853628, ENST00000853629, ENST00000853630, ENST00000853631, ENST00000853632, ENST00000853633, ENST00000853634, ENST00000938988, ENST00000967380, ENST00000967381, ENST00000967382, ENST00000967383, ENST00000967384
RefSeq mRNA: 1 — MANE Select: NM_018843
NM_018843
CCDS: CCDS5610
Canonical transcript exons
ENST00000341119 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000701791 | 87856292 | 87856351 |
| ENSE00000701918 | 87843754 | 87843863 |
| ENSE00001016693 | 87876096 | 87876360 |
| ENSE00001384244 | 87860572 | 87860640 |
| ENSE00001929135 | 87833568 | 87836361 |
| ENSE00003514743 | 87854204 | 87854310 |
| ENSE00003527916 | 87847853 | 87847977 |
| ENSE00003564795 | 87836730 | 87836810 |
| ENSE00003571730 | 87849881 | 87849948 |
| ENSE00003605972 | 87841633 | 87841714 |
| ENSE00003662235 | 87846949 | 87847122 |
| ENSE00003679989 | 87858631 | 87858751 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 92.71.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.6343 / max 140.3126, expressed in 1811 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 84736 | 9.5364 | 1778 |
| 84735 | 8.9573 | 1720 |
| 84731 | 2.1405 | 941 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 92.71 | gold quality |
| monocyte | CL:0000576 | 92.36 | gold quality |
| mononuclear cell | CL:0000842 | 91.77 | gold quality |
| leukocyte | CL:0000738 | 91.43 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 89.90 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 89.30 | gold quality |
| endothelial cell | CL:0000115 | 87.82 | gold quality |
| rectum | UBERON:0001052 | 87.70 | gold quality |
| secondary oocyte | CL:0000655 | 87.09 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 86.68 | gold quality |
| ventricular zone | UBERON:0003053 | 86.24 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 86.24 | gold quality |
| prefrontal cortex | UBERON:0000451 | 85.44 | gold quality |
| skin of hip | UBERON:0001554 | 85.43 | gold quality |
| bone marrow | UBERON:0002371 | 85.32 | gold quality |
| postcentral gyrus | UBERON:0002581 | 85.30 | gold quality |
| colonic mucosa | UBERON:0000317 | 85.10 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.83 | gold quality |
| left ovary | UBERON:0002119 | 84.55 | gold quality |
| heart right ventricle | UBERON:0002080 | 84.45 | silver quality |
| right ovary | UBERON:0002118 | 84.27 | gold quality |
| ganglionic eminence | UBERON:0004023 | 84.15 | gold quality |
| endometrium | UBERON:0001295 | 84.13 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 83.86 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 83.75 | gold quality |
| blood | UBERON:0000178 | 83.62 | gold quality |
| lymph node | UBERON:0000029 | 83.49 | gold quality |
| tibial nerve | UBERON:0001323 | 83.47 | gold quality |
| right adrenal gland | UBERON:0001233 | 83.43 | gold quality |
| cortical plate | UBERON:0005343 | 83.43 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6142 | no | 65.77 |
| E-ANND-3 | no | 4.72 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
114 targeting SLC25A40, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
Literature-anchored findings (GeneRIF, showing 3)
- Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
- Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. (PMID:24268658)
- SLC25A40 Facilitates Anticancer Drug Resistance in Human Leukemia K562 Cells. (PMID:37407483)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Slc25a40 | ENSMUSG00000054099 |
| rattus_norvegicus | Slc25a40 | ENSRNOG00000022837 |
Paralogs (49): SLC25A13 (ENSG00000004864), SLC25A5 (ENSG00000005022), SLC25A39 (ENSG00000013306), 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), SLC25A32 (ENSG00000164933), SLC25A6 (ENSG00000169100), SLC25A33 (ENSG00000171612), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564), UCP2 (ENSG00000175567)
Protein
Protein identifiers
Mitochondrial glutathione transporter SLC25A40 — Q8TBP6 (reviewed: Q8TBP6)
Alternative names: Mitochondrial carrier family protein, Solute carrier family 25 member 40
All UniProt accessions (3): Q8TBP6, F2Z3Q4, F8WEL8
UniProt curated annotations — full annotation on UniProt →
Function. Probable mitochondrial transporter required for glutathione import into mitochondria. Glutathione, which plays key roles in oxidative metabolism, is produced exclusively in the cytosol and is imported in many organelles. Mitochondrial glutathione is required for the activity and stability of proteins containing iron-sulfur clusters, as well as erythropoiesis.
Subcellular location. Mitochondrion inner membrane.
Similarity. Belongs to the mitochondrial carrier (TC 2.A.29) family.
RefSeq proteins (1): NP_061331* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002067 | MCP | Family |
| IPR018108 | MCP_transmembrane | Repeat |
| IPR023395 | MCP_dom_sf | Homologous_superfamily |
| IPR045315 | Mtm1-like | Family |
Pfam: PF00153
Catalyzed reactions (Rhea), 1 shown:
- glutathione(in) = glutathione(out) (RHEA:74819)
UniProt features (15 total): transmembrane region 6, sequence variant 3, repeat 3, sequence conflict 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TBP6-F1 | 78.21 | 0.33 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 146 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, WANG_CLIM2_TARGETS_UP, GOBP_MYELOID_CELL_HOMEOSTASIS, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_MYELOID_CELL_DEVELOPMENT, GOBP_MODIFIED_AMINO_ACID_TRANSPORT, GOBP_ERYTHROCYTE_HOMEOSTASIS, GOBP_MITOCHONDRIAL_TRANSPORT, GOBP_MITOCHONDRIAL_TRANSMEMBRANE_TRANSPORT, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_SULFUR_COMPOUND_TRANSPORT, GOCC_MITOCHONDRIAL_ENVELOPE, DODD_NASOPHARYNGEAL_CARCINOMA_UP, HNF1_C
GO Biological Process (5): erythrocyte development (GO:0048821), import into the mitochondrion (GO:0170036), glutathione transmembrane transport (GO:0034775), transmembrane transport (GO:0055085), mitochondrial transmembrane transport (GO:1990542)
GO Molecular Function (2): glutathione transmembrane transporter activity (GO:0034634), protein binding (GO:0005515)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| erythrocyte differentiation | 1 |
| myeloid cell development | 1 |
| intercellular transport | 1 |
| mitochondrial transmembrane transport | 1 |
| glutathione transport | 1 |
| tripeptide transmembrane transport | 1 |
| transport | 1 |
| cellular process | 1 |
| mitochondrial transport | 1 |
| transmembrane transport | 1 |
| glutathione transmembrane transport | 1 |
| tripeptide transmembrane transporter activity | 1 |
| modified amino acid transmembrane transporter activity | 1 |
| sulfur compound transmembrane transporter activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
766 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC25A40 | RUNDC3B | Q96NL0 | 662 |
| SLC25A40 | WDR44 | Q5JSH3 | 541 |
| SLC25A40 | TMEM243 | Q9BU79 | 500 |
| SLC25A40 | A0A087WVV2 | A0A087WVV2 | 456 |
| SLC25A40 | SLC6A6 | P31641 | 445 |
| SLC25A40 | CROT | Q9UKG9 | 443 |
| SLC25A40 | SEC61G | P38384 | 424 |
| SLC25A40 | DLGAP3 | O95886 | 405 |
| SLC25A40 | FABP5 | Q01469 | 392 |
| SLC25A40 | ADAM22 | Q9P0K1 | 379 |
| SLC25A40 | ABCB1 | P08183 | 366 |
| SLC25A40 | DMTF1 | Q9Y222 | 358 |
| SLC25A40 | CNOT4 | O95628 | 334 |
| SLC25A40 | SLC25A53 | Q5H9E4 | 332 |
| SLC25A40 | FXYD3 | Q14802 | 329 |
IntAct
49 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| NME3 | NME4 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM174A | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| TNFSF8 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| APLNR | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM184A | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC25A40 | COL1A1 | psi-mi:“MI:0915”(physical association) | 0.500 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SH2D3C | TMEM14DP | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | psi-mi:“MI:0914”(association) | 0.350 | |
| MGARP | BTAF1 | psi-mi:“MI:0914”(association) | 0.350 |
| RAMP2 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC25A40 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A4 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| FFAR1 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR182 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| GP9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR45 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| ASPH | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| OPALIN | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD4A | UBXN8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC1A1 | UBXN8 | psi-mi:“MI:0914”(association) | 0.350 |
| AQP3 | UBXN8 | psi-mi:“MI:0914”(association) | 0.350 |
| NAAA | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| VIPR1 | SLC33A1 | psi-mi:“MI:0914”(association) | 0.350 |
| GPBAR1 | SLC33A1 | psi-mi:“MI:0914”(association) | 0.350 |
| BSG | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (53): SLC25A40 (Affinity Capture-MS), SLC25A40 (Affinity Capture-MS), SLC25A40 (Affinity Capture-MS), SLC25A40 (Affinity Capture-MS), SLC25A40 (Proximity Label-MS), SLC25A40 (Proximity Label-MS), SLC25A40 (Proximity Label-MS), SLC25A40 (Proximity Label-MS), SLC25A40 (Proximity Label-MS), CHDH (Affinity Capture-MS), SLC25A40 (Affinity Capture-MS), SLC25A40 (Affinity Capture-MS), COL1A1 (Affinity Capture-MS), IST1 (Affinity Capture-MS), POTEF (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2K309, A0A1D6N272, A3KPP4, G3XP90, G3YD89, O13844, P04575, P04633, P12234, P12242, P16036, P33303, Q08DK7, Q0VCH6, Q1LZB3, Q27257, Q29RM1, Q3KQZ1, Q3TZX3, Q505J6, Q58DS3, Q5HZE0, Q5IS35, Q5NVC1, Q5R7W2, Q5SWT3, Q6AYL0, Q6DFK2, Q6P036, Q6P316, Q7K566, Q8BGP6, Q8BL03, Q8BZ09, Q8N8R3, Q8TBP6, Q8VEM8, Q93XM7, Q99JD3, Q9BSK2
Diamond homologs: A0A1D6N272, A1DI57, A2A3V2, A2ASZ8, A2R5A0, A3LVX1, A4RF23, A5DIS9, A5DX39, A6RF73, A6SL61, A6ZV78, A7ER02, A7TDX5, B4FIJ0, K7VYZ9, O04619, O22261, O65023, O94370, P10861, P14271, P25874, P29518, P53257, P56500, P70406, Q05AQ3, Q08DK7, Q0CEN9, Q0UUH1, Q0V7M4, Q12251, Q1E7P0, Q1ECW7, Q29RM1, Q2HFL6, Q2UCW8, Q3SZK0, Q3ZBJ8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 31 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2603 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:87846943:TCCTA:T | donor_loss | 1.0000 |
| 7:87846944:CCTA:C | donor_loss | 1.0000 |
| 7:87846945:CTA:C | donor_loss | 1.0000 |
| 7:87846946:TACCT:T | donor_loss | 1.0000 |
| 7:87846947:A:T | donor_loss | 1.0000 |
| 7:87846948:CCT:C | donor_loss | 1.0000 |
| 7:87847024:T:A | donor_gain | 1.0000 |
| 7:87847119:CCAA:C | acceptor_gain | 1.0000 |
| 7:87847120:CAA:C | acceptor_gain | 1.0000 |
| 7:87847120:CAAC:C | acceptor_gain | 1.0000 |
| 7:87847123:C:CC | acceptor_gain | 1.0000 |
| 7:87847126:A:AC | acceptor_gain | 1.0000 |
| 7:87847133:CAAG:C | acceptor_gain | 1.0000 |
| 7:87847134:A:T | acceptor_gain | 1.0000 |
| 7:87847137:T:C | acceptor_gain | 1.0000 |
| 7:87847137:T:TC | acceptor_gain | 1.0000 |
| 7:87847846:TAC:T | donor_loss | 1.0000 |
| 7:87847847:A:AC | donor_gain | 1.0000 |
| 7:87847847:ACT:A | donor_loss | 1.0000 |
| 7:87847848:C:CC | donor_gain | 1.0000 |
| 7:87847848:C:G | donor_loss | 1.0000 |
| 7:87847849:TCA:T | donor_loss | 1.0000 |
| 7:87847851:A:AC | donor_gain | 1.0000 |
| 7:87847851:ACAT:A | donor_gain | 1.0000 |
| 7:87847852:C:CG | donor_gain | 1.0000 |
| 7:87847852:CA:C | donor_gain | 1.0000 |
| 7:87847852:CAT:C | donor_gain | 1.0000 |
| 7:87847852:CATC:C | donor_gain | 1.0000 |
| 7:87847852:CATCT:C | donor_gain | 1.0000 |
| 7:87847973:TCACT:T | acceptor_gain | 1.0000 |
AlphaMissense
2204 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:87836309:A:C | S319R | 0.997 |
| 7:87836309:A:T | S319R | 0.997 |
| 7:87836311:T:G | S319R | 0.997 |
| 7:87836322:G:T | A315D | 0.996 |
| 7:87847100:A:C | S160R | 0.996 |
| 7:87847100:A:T | S160R | 0.996 |
| 7:87847102:T:G | S160R | 0.996 |
| 7:87841710:G:T | A249D | 0.995 |
| 7:87847858:G:T | A151D | 0.995 |
| 7:87846953:G:C | F209L | 0.994 |
| 7:87846953:G:T | F209L | 0.994 |
| 7:87846955:A:G | F209L | 0.994 |
| 7:87843758:C:T | G246D | 0.993 |
| 7:87846964:C:G | D206H | 0.993 |
| 7:87849893:A:G | L107P | 0.993 |
| 7:87849903:A:G | W104R | 0.993 |
| 7:87849903:A:T | W104R | 0.993 |
| 7:87841676:T:A | K260N | 0.992 |
| 7:87841676:T:G | K260N | 0.992 |
| 7:87841708:C:G | A250P | 0.992 |
| 7:87849881:A:G | L111P | 0.992 |
| 7:87858654:C:T | G25E | 0.992 |
| 7:87836339:T:A | K309N | 0.991 |
| 7:87836339:T:G | K309N | 0.991 |
| 7:87846966:C:A | R205I | 0.991 |
| 7:87856329:T:A | K40N | 0.991 |
| 7:87856329:T:G | K40N | 0.991 |
| 7:87858655:C:G | G25R | 0.991 |
| 7:87858655:C:T | G25R | 0.991 |
| 7:87836323:C:G | A315P | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000021832 (7:87867704 G>A), RS1000090361 (7:87856550 G>A), RS1000161306 (7:87836325 C>G), RS1000161466 (7:87862369 G>A,T), RS1000203144 (7:87876477 C>T), RS1000219830 (7:87867972 C>G,T), RS1000324195 (7:87842910 T>C,G), RS1000377523 (7:87850047 T>G), RS1000395005 (7:87855716 T>C), RS1000425727 (7:87855407 C>A), RS1000438632 (7:87843330 T>TA), RS1000616551 (7:87836033 G>A,C), RS1000723832 (7:87865914 T>C), RS1000896219 (7:87850637 G>A), RS1000898149 (7:87863649 G>A,C)
Disease associations
OMIM: gene MIM:610821 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
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
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| glycidyl methacrylate | decreases expression | 1 |
| quercitrin | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| abrine | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Rifampin | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | decreases methylation, increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Sodium Selenite | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
7 cell lines: 6 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2FR | Abcam HeLa SLC25A40 KO | Cancer cell line | Female |
| CVCL_B3HA | Abcam HEK293T SLC25A40 KO | Transformed cell line | Female |
| CVCL_D4K9 | HCT116-SLC25A40-KO-c3 | Cancer cell line | Male |
| CVCL_D4KA | HCT116-SLC25A40-KO-c8 | Cancer cell line | Male |
| CVCL_TM46 | HAP1 SLC25A40 (-) 1 | Cancer cell line | Male |
| CVCL_TM47 | HAP1 SLC25A40 (-) 2 | Cancer cell line | Male |
| CVCL_TM48 | HAP1 SLC25A40 (-) 3 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.