SLC25A18
gene geneOn this page
Summary
SLC25A18 (solute carrier family 25 member 18, HGNC:10988) is a protein-coding gene on chromosome 22q11.21, encoding Mitochondrial glutamate carrier 2 (Q9H1K4). Responsible for the transport of glutamate from the cytosol into the mitochondrial matrix with the concomitant import of a proton (symport system).
Enables amino acid:proton symporter activity. Involved in L-glutamate transmembrane transport. Located in mitochondrion.
Source: NCBI Gene 83733 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 16 total
- MANE Select transcript:
NM_031481
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10988 |
| Approved symbol | SLC25A18 |
| Name | solute carrier family 25 member 18 |
| Location | 22q11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000182902 |
| Ensembl biotype | protein_coding |
| OMIM | 609303 |
| Entrez | 83733 |
Gene structure
Transcript identifiers
Ensembl transcripts: 35 — 31 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000327451, ENST00000399813, ENST00000467228, ENST00000469889, ENST00000496051, ENST00000497401, ENST00000907596, ENST00000907597, ENST00000907598, ENST00000907599, ENST00000907600, ENST00000907601, ENST00000907602, ENST00000907603, ENST00000907604, ENST00000907605, ENST00000907606, ENST00000907607, ENST00000907608, ENST00000907609, ENST00000907610, ENST00000907611, ENST00000907612, ENST00000907613, ENST00000907614, ENST00000907615, ENST00000907616, ENST00000907617, ENST00000907618, ENST00000907619, ENST00000925887, ENST00000943247, ENST00000943248, ENST00000943249, ENST00000943250
RefSeq mRNA: 2 — MANE Select: NM_031481
NM_001303484, NM_031481
CCDS: CCDS13744
Canonical transcript exons
ENST00000327451 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001298916 | 17587136 | 17587301 |
| ENSE00001311106 | 17587925 | 17588079 |
| ENSE00001312572 | 17583416 | 17583534 |
| ENSE00001321506 | 17589590 | 17589665 |
| ENSE00001433126 | 17569924 | 17569986 |
| ENSE00001955974 | 17563498 | 17563713 |
| ENSE00003475345 | 17581358 | 17581413 |
| ENSE00003532916 | 17581037 | 17581159 |
| ENSE00003558498 | 17582563 | 17582653 |
| ENSE00003663381 | 17579745 | 17579964 |
| ENSE00003708716 | 17590095 | 17590995 |
Expression profiles
Bgee: expression breadth ubiquitous, 186 present calls, max score 97.61.
FANTOM5 (CAGE): breadth broad, TPM avg 3.9110 / max 213.2844, expressed in 210 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 190981 | 1.8839 | 126 |
| 190978 | 0.9005 | 138 |
| 190979 | 0.4277 | 99 |
| 190983 | 0.4100 | 102 |
| 190980 | 0.1533 | 75 |
| 190982 | 0.1356 | 61 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| medial globus pallidus | UBERON:0002477 | 97.61 | gold quality |
| amygdala | UBERON:0001876 | 97.36 | gold quality |
| putamen | UBERON:0001874 | 96.89 | gold quality |
| globus pallidus | UBERON:0001875 | 96.86 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.68 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.67 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.37 | gold quality |
| temporal lobe | UBERON:0001871 | 96.16 | gold quality |
| substantia nigra | UBERON:0002038 | 95.91 | gold quality |
| entorhinal cortex | UBERON:0002728 | 95.60 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.56 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 95.41 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 95.27 | gold quality |
| Ammon’s horn | UBERON:0001954 | 95.24 | gold quality |
| midbrain | UBERON:0001891 | 95.16 | gold quality |
| hypothalamus | UBERON:0001898 | 95.06 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.36 | gold quality |
| endothelial cell | CL:0000115 | 94.20 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 93.71 | gold quality |
| liver | UBERON:0002107 | 93.69 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 93.63 | gold quality |
| postcentral gyrus | UBERON:0002581 | 93.50 | gold quality |
| primary visual cortex | UBERON:0002436 | 93.09 | gold quality |
| frontal cortex | UBERON:0001870 | 92.91 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 92.82 | gold quality |
| cerebral cortex | UBERON:0000956 | 92.75 | gold quality |
| neocortex | UBERON:0001950 | 92.46 | gold quality |
| parietal lobe | UBERON:0001872 | 92.32 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.31 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.97 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-25 | yes | 23.56 |
| E-GEOD-84465 | yes | 12.64 |
| E-ANND-3 | no | 2.78 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting SLC25A18, 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-4500 | 99.99 | 72.72 | 2367 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-6848-3P | 99.64 | 66.49 | 885 |
| HSA-MIR-653-5P | 99.46 | 67.35 | 1300 |
| HSA-MIR-6843-3P | 99.26 | 66.42 | 915 |
| HSA-MIR-371A-5P | 99.08 | 66.51 | 1914 |
| HSA-MIR-670-3P | 99.03 | 68.88 | 2404 |
| HSA-MIR-5088-3P | 98.29 | 66.63 | 1310 |
| HSA-MIR-637 | 97.91 | 64.05 | 1517 |
| HSA-MIR-4446-3P | 97.91 | 64.29 | 991 |
| HSA-MIR-7113-5P | 97.88 | 67.33 | 1735 |
| HSA-MIR-4294 | 97.86 | 65.72 | 1110 |
| HSA-MIR-943 | 97.81 | 64.42 | 694 |
Literature-anchored findings (GeneRIF, showing 3)
- The genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for cat eye syndrome (CES), may be responsible for anorectal, renal and preauricular anomalies in patients with CES. (PMID:22395867)
- Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
- Increased expression of SLC25A18 is associated with Alzheimer’s disease and is involved in Abeta42-induced mitochondrial dysfunction and apoptosis in neuronal cells. (PMID:38871013)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Slc25a18 | ENSMUSG00000004902 |
| rattus_norvegicus | Slc25a18 | ENSRNOG00000042731 |
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), SLC25A32 (ENSG00000164933), SLC25A6 (ENSG00000169100), SLC25A33 (ENSG00000171612), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564)
Protein
Protein identifiers
Mitochondrial glutamate carrier 2 — Q9H1K4 (reviewed: Q9H1K4)
Alternative names: Glutamate/H(+) symporter 2, Solute carrier family 25 member 18
All UniProt accessions (1): Q9H1K4
UniProt curated annotations — full annotation on UniProt →
Function. Responsible for the transport of glutamate from the cytosol into the mitochondrial matrix with the concomitant import of a proton (symport system).
Subcellular location. Mitochondrion inner membrane.
Tissue specificity. Expressed in brain, to a lesser extent in testis, and poorly in all the other tissues.
Similarity. Belongs to the mitochondrial carrier (TC 2.A.29) family.
RefSeq proteins (2): NP_001290413, NP_113669* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002067 | MCP | Family |
| IPR018108 | MCP_transmembrane | Repeat |
| IPR023395 | MCP_dom_sf | Homologous_superfamily |
| IPR051028 | Mito_Solute_Carrier | Family |
Pfam: PF00153
Catalyzed reactions (Rhea), 1 shown:
- L-glutamate(in) + H(+)(in) = L-glutamate(out) + H(+)(out) (RHEA:70955)
UniProt features (13 total): transmembrane region 6, repeat 3, chain 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H1K4-F1 | 73.24 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 145
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-442660 | SLC-mediated transport of neurotransmitters |
| R-HSA-9856872 | Malate-aspartate shuttle |
| R-HSA-428643 | Organic anion transport by SLC5/17/25 transporters |
MSigDB gene sets: 108 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_NADPLUS_METABOLIC_PROCESS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_AMINO_ACID_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GGGNNTTTCC_NFKB_Q6_01, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_DICARBOXYLIC_ACID_TRANSPORT, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOBP_ACIDIC_AMINO_ACID_TRANSPORT, GFI1_01
GO Biological Process (7): monoatomic ion transport (GO:0006811), aspartate transmembrane transport (GO:0015810), L-glutamate transmembrane transport (GO:0015813), malate-aspartate shuttle (GO:0043490), transmembrane transport (GO:0055085), L-aspartate transmembrane transport (GO:0070778), proton transmembrane transport (GO:1902600)
GO Molecular Function (5): amino acid:proton symporter activity (GO:0005280), L-glutamate transmembrane transporter activity (GO:0005313), L-aspartate transmembrane transporter activity (GO:0015183), protein binding (GO:0005515), symporter activity (GO:0015293)
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 |
|---|---|
| SLC-mediated transmembrane transport | 1 |
| Respiratory electron transport | 1 |
| SLC-mediated transport of organic anions | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 2 |
| L-alpha-amino acid transmembrane transport | 2 |
| acidic amino acid transmembrane transporter activity | 2 |
| L-amino acid transmembrane transporter activity | 2 |
| amino acid transmembrane transport | 1 |
| C4-dicarboxylate transport | 1 |
| acidic amino acid transport | 1 |
| nitrogen compound transport | 1 |
| carboxylic acid transmembrane transport | 1 |
| L-glutamate import | 1 |
| L-aspartate:2-oxoglutarate transaminase activity | 1 |
| NAD+ metabolic process | 1 |
| L-malate dehydrogenase (NAD+) activity | 1 |
| mitochondrial transmembrane transport | 1 |
| cellular process | 1 |
| aspartate transmembrane transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| amino acid:monoatomic cation symporter activity | 1 |
| solute:proton symporter activity | 1 |
| dicarboxylic acid transmembrane transporter activity | 1 |
| L-glutamate transmembrane transport | 1 |
| C4-dicarboxylate transmembrane transporter activity | 1 |
| L-aspartate transmembrane transport | 1 |
| binding | 1 |
| secondary active transmembrane transporter activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
872 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC25A18 | GC | P02774 | 907 |
| SLC25A18 | ST6GALNAC1 | Q9NSC7 | 795 |
| SLC25A18 | GUCA1C | O95843 | 760 |
| SLC25A18 | GUCA1B | Q9UMX6 | 696 |
| SLC25A18 | NDRG1 | Q92597 | 646 |
| SLC25A18 | MTCH1 | Q9NZJ7 | 571 |
| SLC25A18 | C3 | P01024 | 551 |
| SLC25A18 | SCIN | Q9Y6U3 | 548 |
| SLC25A18 | MTCH2 | Q9Y6C9 | 530 |
| SLC25A18 | GSN | P06396 | 506 |
| SLC25A18 | ALB | P02768 | 500 |
| SLC25A18 | A6NFB4 | A6NFB4 | 485 |
| SLC25A18 | AFP | P02771 | 475 |
| SLC25A18 | CECR2 | Q9BXF3 | 462 |
| SLC25A18 | CYP2R1 | Q6VVX0 | 447 |
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HSPD1 | NUDT19 | psi-mi:“MI:0914”(association) | 0.710 |
| SLC25A18 | GOPC | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOPC | SLC25A18 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP9-3 | SLC25A18 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | SLC25A18 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP13-2 | SLC25A18 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP19-6 | SLC25A18 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC25A22 | DNLZ | psi-mi:“MI:0914”(association) | 0.530 |
| PJA1 | SMC5 | psi-mi:“MI:0914”(association) | 0.530 |
| FLT4 | ILVBL | psi-mi:“MI:0914”(association) | 0.420 |
| SLC25A18 | GAPDHS | psi-mi:“MI:0915”(physical association) | 0.400 |
| FGR | HNRNPCL1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAP2K5 | DNAJA2 | psi-mi:“MI:0914”(association) | 0.350 |
| LCK | CDK1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAP2K5 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.350 |
| LCK | UQCRQ | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC16A11 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC25A18 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC25A18 | FAM83B | psi-mi:“MI:0914”(association) | 0.350 |
| P/V | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL58 | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC25A18 | KRTAP9-3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC25A18 | CYSRT1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC25A18 | KRTAP13-2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (46): SLC25A18 (Two-hybrid), SLC25A18 (Affinity Capture-MS), SLC25A18 (Affinity Capture-MS), SLC25A18 (Affinity Capture-MS), SLC25A18 (Affinity Capture-MS), SLC25A18 (Two-hybrid), KRTAP19-6 (Two-hybrid), CYSRT1 (Two-hybrid), KRTAP9-3 (Two-hybrid), SLC25A18 (Affinity Capture-MS), SLC25A18 (Affinity Capture-MS), SLC25A18 (Affinity Capture-MS), SLC25A18 (Affinity Capture-MS), SLC25A18 (Affinity Capture-MS), SLC25A18 (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: A0A0G2K5L2, A2ADF7, A4QNX2, B0G143, F1LX07, F1LZW6, F1RFX9, O13844, O43772, O75746, P16261, P39953, Q02978, Q08DK4, Q0II44, Q12482, Q1DRJ3, Q21153, Q26365, Q3KQZ1, Q3TZX3, Q4V8K4, Q505J6, Q54QN2, Q54RB9, Q552L9, Q58DS3, Q5B717, Q5RBC8, Q5RD81, Q5SWT3, Q5XIF9, Q5ZKP7, Q66L49, Q68F18, Q6ZT89, Q75AH6, Q7PQV7, Q86AV5, Q8BH59
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
16 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 11 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2173 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:17563714:G:GG | donor_gain | 1.0000 |
| 22:17581035:A:AG | acceptor_gain | 1.0000 |
| 22:17581036:G:GA | acceptor_gain | 1.0000 |
| 22:17581036:GC:G | acceptor_gain | 1.0000 |
| 22:17581140:A:T | donor_gain | 1.0000 |
| 22:17581155:GGAAT:G | donor_gain | 1.0000 |
| 22:17581156:GAAT:G | donor_gain | 1.0000 |
| 22:17581156:GAATG:G | donor_gain | 1.0000 |
| 22:17581157:A:T | donor_gain | 1.0000 |
| 22:17581158:AT:A | donor_gain | 1.0000 |
| 22:17581160:G:GG | donor_gain | 1.0000 |
| 22:17582556:C:G | acceptor_gain | 1.0000 |
| 22:17582559:CCA:C | acceptor_loss | 1.0000 |
| 22:17582561:A:AG | acceptor_gain | 1.0000 |
| 22:17582561:A:C | acceptor_loss | 1.0000 |
| 22:17582561:AG:A | acceptor_gain | 1.0000 |
| 22:17582561:AGG:A | acceptor_gain | 1.0000 |
| 22:17582561:AGGG:A | acceptor_gain | 1.0000 |
| 22:17582562:G:A | acceptor_gain | 1.0000 |
| 22:17582562:G:GA | acceptor_gain | 1.0000 |
| 22:17582562:GGG:G | acceptor_gain | 1.0000 |
| 22:17582562:GGGG:G | acceptor_gain | 1.0000 |
| 22:17582562:GGGGC:G | acceptor_gain | 1.0000 |
| 22:17582646:G:T | donor_gain | 1.0000 |
| 22:17582646:GAAGA:G | donor_gain | 1.0000 |
| 22:17582649:GATGG:G | donor_gain | 1.0000 |
| 22:17582650:A:G | donor_gain | 1.0000 |
| 22:17582650:ATGG:A | donor_loss | 1.0000 |
| 22:17582652:GG:G | donor_gain | 1.0000 |
| 22:17582652:GGGTA:G | donor_loss | 1.0000 |
AlphaMissense
2042 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:17590171:T:C | F295L | 0.996 |
| 22:17590173:T:A | F295L | 0.996 |
| 22:17590173:T:G | F295L | 0.996 |
| 22:17581089:T:C | C25R | 0.995 |
| 22:17581095:T:C | F27L | 0.994 |
| 22:17581097:C:A | F27L | 0.994 |
| 22:17581097:C:G | F27L | 0.994 |
| 22:17581115:G:C | K33N | 0.994 |
| 22:17581115:G:T | K33N | 0.994 |
| 22:17587935:T:C | F196L | 0.994 |
| 22:17587937:C:A | F196L | 0.994 |
| 22:17587937:C:G | F196L | 0.994 |
| 22:17590163:C:A | A292E | 0.994 |
| 22:17587950:T:C | F201L | 0.993 |
| 22:17587952:C:A | F201L | 0.993 |
| 22:17587952:C:G | F201L | 0.993 |
| 22:17587951:T:G | F201C | 0.992 |
| 22:17589597:A:C | K246N | 0.992 |
| 22:17589597:A:T | K246N | 0.992 |
| 22:17590166:C:A | P293H | 0.992 |
| 22:17590175:G:A | G296E | 0.992 |
| 22:17581080:G:A | G22R | 0.991 |
| 22:17581080:G:C | G22R | 0.991 |
| 22:17583506:G:C | K127N | 0.991 |
| 22:17583506:G:T | K127N | 0.991 |
| 22:17588032:G:A | G228D | 0.991 |
| 22:17588053:C:A | A235D | 0.991 |
| 22:17588076:G:C | D243H | 0.991 |
| 22:17589602:G:C | R248P | 0.991 |
| 22:17581069:C:A | A18E | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000136944 (22:17574974 T>C), RS1000187943 (22:17567423 T>C,G), RS1000208610 (22:17584178 G>C), RS1000222450 (22:17589484 A>C,G), RS1000307803 (22:17589207 G>A), RS1000308988 (22:17565089 GTTTTGTTTTT>G), RS1000333019 (22:17565360 C>T), RS1000437762 (22:17564977 G>A,C), RS1000558609 (22:17590744 G>A), RS1000668007 (22:17568405 G>C), RS1000809240 (22:17580033 A>C), RS1000861491 (22:17580389 A>G,T), RS1000891834 (22:17565205 C>T), RS1000893323 (22:17584403 G>A,T), RS1001131960 (22:17590949 T>C)
Disease associations
OMIM: gene MIM:609303 | 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 — Mitochondrial amino acid transporter subfamily
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases methylation, affects cotreatment, increases expression | 2 |
| Acetaminophen | increases expression, decreases expression | 2 |
| Nickel | decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| bisphenol S | decreases expression, affects cotreatment | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Amiodarone | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression, decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Indomethacin | increases expression, decreases expression, affects cotreatment | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression, decreases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Palmitic Acid | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Acrylamide | increases expression | 1 |
Cellosaurus cell lines
5 cell lines: 5 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4SI | HuH7-SLC25A18-KO-c10 | Cancer cell line | Male |
| CVCL_D4SJ | HuH7-SLC25A18-KO-c3 | Cancer cell line | Male |
| CVCL_D4SK | HuH7-SLC25A18-KO-c9 | Cancer cell line | Male |
| CVCL_TM19 | HAP1 SLC25A18 (-) 1 | Cancer cell line | Male |
| CVCL_TM20 | HAP1 SLC25A18 (-) 2 | 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.