SLC25A39
gene geneOn this page
Also known as FLJ22407CGI-69
Summary
SLC25A39 (solute carrier family 25 member 39, HGNC:24279) is a protein-coding gene on chromosome 17q21.31, encoding Mitochondrial glutathione transporter SLC25A39 (Q9BZJ4). Mitochondrial transporter required for glutathione import into mitochondria.
This gene encodes a member of the SLC25 transporter or mitochondrial carrier family of proteins. Members of this family are encoded by the nuclear genome while their protein products are usually embedded in the inner mitochondrial membrane and exhibit wide-ranging substrate specificity. Although the encoded protein is currently considered an orphan transporter, this protein is related to other carriers known to transport amino acids. This protein may play a role in iron homeostasis.
Source: NCBI Gene 51629 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 104 total
- MANE Select transcript:
NM_001143780
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24279 |
| Approved symbol | SLC25A39 |
| Name | solute carrier family 25 member 39 |
| Location | 17q21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ22407, CGI-69 |
| Ensembl gene | ENSG00000013306 |
| Ensembl biotype | protein_coding |
| OMIM | 610820 |
| Entrez | 51629 |
Gene structure
Transcript identifiers
Ensembl transcripts: 53 — 47 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay
ENST00000225308, ENST00000377095, ENST00000537904, ENST00000585523, ENST00000585636, ENST00000585695, ENST00000586016, ENST00000586633, ENST00000588049, ENST00000588315, ENST00000588767, ENST00000590194, ENST00000591006, ENST00000591151, ENST00000592372, ENST00000592857, ENST00000593166, ENST00000903240, ENST00000903241, ENST00000903242, ENST00000903243, ENST00000903244, ENST00000903245, ENST00000903246, ENST00000903247, ENST00000903248, ENST00000903249, ENST00000903250, ENST00000903251, ENST00000903252, ENST00000903253, ENST00000903254, ENST00000903255, ENST00000903256, ENST00000903257, ENST00000903258, ENST00000903259, ENST00000903260, ENST00000903261, ENST00000903262, ENST00000903263, ENST00000903264, ENST00000903265, ENST00000903266, ENST00000903267, ENST00000903268, ENST00000926094, ENST00000926095, ENST00000926096, ENST00000926097, ENST00000926098, ENST00000955435, ENST00000955436
RefSeq mRNA: 5 — MANE Select: NM_001143780
NM_001143780, NM_001321240, NM_001321241, NM_001366726, NM_016016
CCDS: CCDS11482, CCDS45700, CCDS82138
Canonical transcript exons
ENST00000377095 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000390664 | 44321058 | 44321231 |
| ENSE00002885746 | 44324711 | 44324823 |
| ENSE00002889229 | 44319628 | 44320116 |
| ENSE00003497492 | 44320196 | 44320276 |
| ENSE00003536000 | 44320622 | 44320731 |
| ENSE00003544244 | 44323284 | 44323343 |
| ENSE00003556557 | 44321700 | 44321767 |
| ENSE00003601221 | 44323478 | 44323577 |
| ENSE00003606629 | 44322419 | 44322552 |
| ENSE00003617176 | 44320355 | 44320436 |
| ENSE00003681580 | 44322808 | 44322852 |
| ENSE00003784772 | 44321434 | 44321558 |
Expression profiles
Bgee: expression breadth ubiquitous, 246 present calls, max score 98.79.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 153.1663 / max 8318.9075, expressed in 1825 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 166362 | 150.9984 | 1825 |
| 166360 | 1.5927 | 784 |
| 166361 | 0.5751 | 270 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 98.79 | gold quality |
| blood | UBERON:0000178 | 98.73 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.52 | gold quality |
| metanephros cortex | UBERON:0010533 | 98.45 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.94 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.93 | gold quality |
| right testis | UBERON:0004534 | 97.89 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.81 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.80 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.79 | gold quality |
| body of pancreas | UBERON:0001150 | 97.78 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.76 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.73 | gold quality |
| left testis | UBERON:0004533 | 97.67 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.51 | gold quality |
| cortex of kidney | UBERON:0001225 | 97.50 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.34 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.32 | gold quality |
| body of stomach | UBERON:0001161 | 97.21 | gold quality |
| transverse colon | UBERON:0001157 | 97.19 | gold quality |
| bone marrow | UBERON:0002371 | 97.17 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.15 | gold quality |
| skin of leg | UBERON:0001511 | 97.11 | gold quality |
| bone marrow cell | CL:0002092 | 97.04 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.97 | gold quality |
| adrenal cortex | UBERON:0001235 | 96.93 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 96.84 | gold quality |
| adrenal gland | UBERON:0002369 | 96.71 | gold quality |
| esophagus | UBERON:0001043 | 96.68 | gold quality |
| thyroid gland | UBERON:0002046 | 96.65 | gold quality |
Single-cell (SCXA)
Detected in 20 experiment(s), a significant marker in 19.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-122 | yes | 1282.14 |
| E-CURD-120 | yes | 1123.09 |
| E-MTAB-9221 | yes | 838.14 |
| E-MTAB-6653 | yes | 694.13 |
| E-GEOD-139324 | yes | 486.69 |
| E-MTAB-8207 | yes | 436.42 |
| E-HCAD-8 | yes | 405.31 |
| E-HCAD-36 | yes | 360.86 |
| E-MTAB-10553 | yes | 301.57 |
| E-MTAB-10287 | yes | 277.51 |
| E-HCAD-4 | yes | 147.57 |
| E-CURD-112 | yes | 65.96 |
| E-MTAB-10042 | yes | 43.65 |
| E-HCAD-9 | yes | 13.55 |
| E-MTAB-9467 | yes | 10.21 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
21 targeting SLC25A39, 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-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-133A-3P | 99.27 | 71.53 | 1270 |
| HSA-MIR-133B | 99.27 | 71.53 | 1270 |
| HSA-MIR-7160-5P | 99.11 | 67.17 | 2207 |
| HSA-MIR-4254 | 99.11 | 65.15 | 1315 |
| HSA-MIR-7702 | 99.06 | 65.95 | 698 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-761 | 98.71 | 68.07 | 2051 |
| HSA-MIR-555 | 95.92 | 65.25 | 564 |
Literature-anchored findings (GeneRIF, showing 7)
- Required for functional heme biosynthesis in erythroid cells. Possibly regulate ALAS2 through iron-sulfur cluster biogenesis. (PMID:19656490)
- Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
- Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period. (PMID:33963205)
- SLC25A39 is necessary for mitochondrial glutathione import in mammalian cells. (PMID:34707288)
- Autoregulatory control of mitochondrial glutathione homeostasis. (PMID:37917749)
- Dual regulation of SLC25A39 by AFG3L2 and iron controls mitochondrial glutathione homeostasis. (PMID:38157846)
- SLC25A39 links mitochondrial GSH sensing with iron metabolism. (PMID:38364779)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Slc25a39 | ENSMUSG00000018677 |
| rattus_norvegicus | Slc25a39 | ENSRNOG00000020994 |
Paralogs (49): SLC25A13 (ENSG00000004864), SLC25A5 (ENSG00000005022), 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), SLC25A32 (ENSG00000164933), SLC25A6 (ENSG00000169100), SLC25A33 (ENSG00000171612), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564), UCP2 (ENSG00000175567)
Protein
Protein identifiers
Mitochondrial glutathione transporter SLC25A39 — Q9BZJ4 (reviewed: Q9BZJ4)
Alternative names: Solute carrier family 25 member 39
All UniProt accessions (10): Q9BZJ4, B4DFG5, K7EJI2, K7EKC2, K7EKF4, K7ELM7, K7EMR4, K7EMW3, K7EQS4, K7EQS8
UniProt curated annotations — full annotation on UniProt →
Function. 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.
Tissue specificity. Expressed in many tissues. Abundant in testis and kidney.
Post-translational modifications. Cleaved and degraded by AFG3L2; degradation by AFG3L2 is regulated by the ability of SLC25A39 to bind iron-sulfur. In absence of mitochondrial glutathione, SLC25A39 binds iron-sulfur, preventing cleavage and degradation by AFG3L2. The presence of mitochondrial glutathione prevents iron-sulfur-binding to SLC25A39, promoting cleavage and degradation by AFG3L2.
Activity regulation. The activity of SLC25A39 is regulated by levels of mitochondrial glutathione via its ability to bind [2Fe-2S] iron-sulfur cluster. Upon physiological levels of mitochondrial glutathione, glutathione prevents iron-sulfur-binding to SLC25A39 promoting cleavage and degradation by AFG3L2. Upon depletion of mitochondrial glutathione, SLC25A39 binds iron-sulfur, preventing cleavage and degradation by AFG3L2.
Similarity. Belongs to the mitochondrial carrier (TC 2.A.29) family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BZJ4-1 | 1, CGI-69L | yes |
| Q9BZJ4-2 | 2 |
RefSeq proteins (5): NP_001137252, NP_001308169, NP_001308170, NP_001353655, NP_057100 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| 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 (27 total): topological domain 7, transmembrane region 6, binding site 4, repeat 3, mutagenesis site 3, chain 1, splice variant 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BZJ4-F1 | 73.84 | 0.25 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 74; 78; 88; 94
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 74–94 | abolished binding to [2fe-2s] cluster, promoting degradation by afg3l2. |
| 226 | abolished glutathione import into mitochondria without affecting the levels of nad. |
| 329 | abolished glutathione import into mitochondria without affecting the levels of nad. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 172 (showing top):
RNGTGGGC_UNKNOWN, GOBP_MODIFIED_AMINO_ACID_TRANSPORT, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_TETRAPYRROLE_BIOSYNTHETIC_PROCESS, GOBP_MITOCHONDRIAL_TRANSPORT, GOBP_MITOCHONDRIAL_TRANSMEMBRANE_TRANSPORT, GOBP_RESPONSE_TO_METAL_ION, GOBP_PORPHYRIN_CONTAINING_COMPOUND_METABOLIC_PROCESS, GTGCCTT_MIR506, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_TETRAPYRROLE_METABOLIC_PROCESS, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_SULFUR_COMPOUND_TRANSPORT, GOBP_PIGMENT_METABOLIC_PROCESS, GOCC_MITOCHONDRIAL_ENVELOPE
GO Biological Process (7): heme biosynthetic process (GO:0006783), cellular response to iron ion (GO:0071281), glutathione import into mitochondrion (GO:0160007), import into the mitochondrion (GO:0170036), transmembrane transport (GO:0055085), cellular response to glutathione (GO:0072753), mitochondrial transmembrane transport (GO:1990542)
GO Molecular Function (4): glutathione transmembrane transporter activity (GO:0034634), metal ion binding (GO:0046872), 2 iron, 2 sulfur cluster binding (GO:0051537), iron-sulfur cluster binding (GO:0051536)
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 |
|---|---|
| intercellular transport | 2 |
| glutathione transmembrane transport | 2 |
| porphyrin-containing compound biosynthetic process | 1 |
| heme metabolic process | 1 |
| pigment biosynthetic process | 1 |
| response to iron ion | 1 |
| cellular response to metal ion | 1 |
| mitochondrial transmembrane transport | 1 |
| transport | 1 |
| cellular process | 1 |
| response to glutathione | 1 |
| cellular response to nitrogen compound | 1 |
| cellular response to oxygen-containing compound | 1 |
| mitochondrial transport | 1 |
| transmembrane transport | 1 |
| tripeptide transmembrane transporter activity | 1 |
| modified amino acid transmembrane transporter activity | 1 |
| sulfur compound transmembrane transporter activity | 1 |
| cation binding | 1 |
| iron-sulfur cluster binding | 1 |
| metal cluster 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
942 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC25A39 | RUNDC3A | Q59EK9 | 892 |
| SLC25A39 | GRN | P23781 | 672 |
| SLC25A39 | TMEM14C | Q9P0S9 | 636 |
| SLC25A39 | ISCA1 | Q9BUE6 | 591 |
| SLC25A39 | ALAS2 | P22557 | 573 |
| SLC25A39 | SLC25A35 | Q3KQZ1 | 571 |
| SLC25A39 | TARDBP | Q13148 | 549 |
| SLC25A39 | IBA57 | Q5T440 | 548 |
| SLC25A39 | ABCB7 | O75027 | 525 |
| SLC25A39 | GATA1 | P15976 | 491 |
| SLC25A39 | FECH | P22830 | 490 |
| SLC25A39 | UBB | P02248 | 470 |
| SLC25A39 | SIGMAR1 | Q99720 | 446 |
| SLC25A39 | ABCB6 | Q9NP58 | 428 |
| SLC25A39 | SFXN1 | Q9H9B4 | 415 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HSPD1 | NUDT19 | psi-mi:“MI:0914”(association) | 0.710 |
| IMPDH1 | BCAT2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC25A39 | ADORA2A | psi-mi:“MI:0915”(physical association) | 0.370 |
| IMPDH1 | MGST3 | psi-mi:“MI:0914”(association) | 0.350 |
| lipA | SLC25A39 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (12): SLC25A39 (Affinity Capture-RNA), SLC25A39 (Affinity Capture-RNA), SLC25A39 (Affinity Capture-RNA), SLC25A39 (Affinity Capture-MS), SLC25A39 (Two-hybrid), SLC25A39 (Negative Genetic), SLC25A39 (Affinity Capture-RNA), SLC25A39 (Affinity Capture-MS), SLC25A39 (Affinity Capture-MS), SLC25A39 (Affinity Capture-RNA), SLC25A39 (Protein-peptide), SLC25A39 (Affinity Capture-RNA)
ESM2 similar proteins: A0PC02, A1DI57, A2ADF7, A2R5A0, A3KPP4, G3XP90, O95847, P04633, P10861, P12242, P16260, P56500, Q01888, Q08DK7, Q0CEN9, Q17QI7, Q23125, Q29RM1, Q2UCW8, Q3KQZ1, Q3SZK0, Q4V8K4, Q505J6, Q58DS3, Q5HZE0, Q5IS35, Q5NVC1, Q5SWT3, Q5XIF9, Q6AYL0, Q6IS41, Q6J329, Q6PH61, Q6PIV7, Q6Q0C1, Q7SXW0, Q8BL03, Q8C0K5, Q8N8R3, Q9BV35
Diamond homologs: A0A0G2K5L2, A0JN87, A2ADF7, A4QNX2, F1LX07, F1LZW6, F4HT41, G3YFS7, K3VFR5, O18757, O22261, O43772, O75746, O95258, O97562, O97649, P0C546, P0CI40, P23500, P55851, P55916, P56500, P70406, P97521, Q03028, Q08CI8, Q08DK4, Q08DK7, Q12482, Q17QI7, Q19529, Q1ECW7, Q21153, Q27257, Q3SZI5, Q3SZK0, Q505J6, Q54PY7, Q54QN2, Q54RB9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
104 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 81 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1452 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:44320112:GAAGC:G | acceptor_gain | 1.0000 |
| 17:44320113:AAGC:A | acceptor_gain | 1.0000 |
| 17:44320114:AGC:A | acceptor_gain | 1.0000 |
| 17:44320115:GC:G | acceptor_gain | 1.0000 |
| 17:44320116:CC:C | acceptor_gain | 1.0000 |
| 17:44320117:C:CC | acceptor_gain | 1.0000 |
| 17:44320117:CTGCA:C | acceptor_loss | 1.0000 |
| 17:44320120:CAG:C | acceptor_gain | 1.0000 |
| 17:44320121:A:T | acceptor_gain | 1.0000 |
| 17:44320122:G:C | acceptor_gain | 1.0000 |
| 17:44320122:G:GC | acceptor_gain | 1.0000 |
| 17:44320192:TGA:T | donor_loss | 1.0000 |
| 17:44320193:GAC:G | donor_loss | 1.0000 |
| 17:44320194:A:C | donor_loss | 1.0000 |
| 17:44320195:CCT:C | donor_loss | 1.0000 |
| 17:44320207:C:A | donor_gain | 1.0000 |
| 17:44320272:GTTCA:G | acceptor_gain | 1.0000 |
| 17:44320273:TTCA:T | acceptor_gain | 1.0000 |
| 17:44320273:TTCAC:T | acceptor_loss | 1.0000 |
| 17:44320274:TCA:T | acceptor_gain | 1.0000 |
| 17:44320275:CA:C | acceptor_gain | 1.0000 |
| 17:44320275:CAC:C | acceptor_gain | 1.0000 |
| 17:44320276:ACTGC:A | acceptor_loss | 1.0000 |
| 17:44320277:C:CC | acceptor_gain | 1.0000 |
| 17:44320277:CTGC:C | acceptor_loss | 1.0000 |
| 17:44320278:T:A | acceptor_loss | 1.0000 |
| 17:44320284:C:CT | acceptor_gain | 1.0000 |
| 17:44320349:CCTCA:C | donor_loss | 1.0000 |
| 17:44320350:CTCAC:C | donor_loss | 1.0000 |
| 17:44320352:CACCT:C | donor_loss | 1.0000 |
AlphaMissense
2286 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:44320064:G:C | S339R | 0.998 |
| 17:44320064:G:T | S339R | 0.998 |
| 17:44320066:T:G | S339R | 0.998 |
| 17:44320077:G:T | A335D | 0.997 |
| 17:44320094:C:A | K329N | 0.997 |
| 17:44320094:C:G | K329N | 0.997 |
| 17:44321062:G:C | F229L | 0.997 |
| 17:44321062:G:T | F229L | 0.997 |
| 17:44321064:A:G | F229L | 0.997 |
| 17:44320070:C:A | M337I | 0.995 |
| 17:44320070:C:G | M337I | 0.995 |
| 17:44320070:C:T | M337I | 0.995 |
| 17:44320089:G:T | A331D | 0.995 |
| 17:44320398:C:A | K280N | 0.995 |
| 17:44320398:C:G | K280N | 0.995 |
| 17:44323321:C:A | K36N | 0.995 |
| 17:44323321:C:G | K36N | 0.995 |
| 17:44323501:C:T | G21E | 0.995 |
| 17:44323513:G:T | A17D | 0.995 |
| 17:44320074:A:T | I336N | 0.994 |
| 17:44320432:G:T | A269D | 0.994 |
| 17:44323337:G:T | P31H | 0.994 |
| 17:44323502:C:G | G21R | 0.994 |
| 17:44323502:C:T | G21R | 0.994 |
| 17:44320196:C:G | G322R | 0.993 |
| 17:44320408:T:A | D277V | 0.993 |
| 17:44320638:C:T | G262D | 0.993 |
| 17:44321075:C:G | R225P | 0.993 |
| 17:44321722:A:G | W124R | 0.993 |
| 17:44321722:A:T | W124R | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000425732 (17:44321930 C>A,T), RS1000457072 (17:44322117 T>G), RS1000509295 (17:44322232 G>A), RS1000657851 (17:44326694 A>G), RS1001584367 (17:44324147 T>A,C), RS1002154031 (17:44323075 A>G), RS1002188577 (17:44323155 T>A), RS1002752839 (17:44324833 C>T), RS1002829945 (17:44324965 C>G,T), RS1002845031 (17:44325073 T>G), RS1002878881 (17:44323402 C>A,G,T), RS1002967668 (17:44320570 GC>G,GCC), RS1003345954 (17:44320369 A>G), RS1003974412 (17:44320706 C>G), RS1004762385 (17:44323856 G>A,T)
Disease associations
OMIM: gene MIM:610820 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003991_24 | Childhood ear infection | 9.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007904 | susceptibility to childhood ear infection measurement |
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
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 4 |
| sodium arsenite | increases expression, affects cotreatment, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| bisphenol A | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation | 1 |
| N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| MT19c compound | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Ozone | affects cotreatment, increases oxidation | 1 |
| Quercetin | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tunicamycin | decreases expression | 1 |
| Thapsigargin | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
Cellosaurus cell lines
6 cell lines: 5 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3H9 | Abcam HEK293T SLC25A39 KO | Transformed cell line | Female |
| CVCL_D4K5 | HCT116-SLC25A39-KO-c7 | Cancer cell line | Male |
| CVCL_D4K6 | HCT116-SLC25A39-KO-c8 | Cancer cell line | Male |
| CVCL_TM41 | HAP1 SLC25A39 (-) 1 | Cancer cell line | Male |
| CVCL_TM42 | HAP1 SLC25A39 (-) 2 | Cancer cell line | Male |
| CVCL_TM43 | HAP1 SLC25A39 (-) 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.