SLC25A30
gene geneOn this page
Summary
SLC25A30 (solute carrier family 25 member 30, HGNC:27371) is a protein-coding gene on chromosome 13q14.13, encoding Kidney mitochondrial carrier protein 1 (Q5SVS4). Antiporter that transports inorganic anions (sulfate, sulfite, thiosulfate and phosphate) and, to a lesser extent, a variety of dicarboxylates (e.g. malonate, malate and citramalate) and, even more so, aspartate.
Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).
Source: NCBI Gene 253512 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 47 total
- MANE Select transcript:
NM_001010875
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27371 |
| Approved symbol | SLC25A30 |
| Name | solute carrier family 25 member 30 |
| Location | 13q14.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000174032 |
| Ensembl biotype | protein_coding |
| OMIM | 610793 |
| Entrez | 253512 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 13 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000310862, ENST00000463262, ENST00000519547, ENST00000519676, ENST00000522438, ENST00000523988, ENST00000539591, ENST00000618165, ENST00000857529, ENST00000857530, ENST00000857531, ENST00000857532, ENST00000857533, ENST00000857534, ENST00000857535, ENST00000954031
RefSeq mRNA: 3 — MANE Select: NM_001010875
NM_001010875, NM_001286806, NM_001286807
CCDS: CCDS31967, CCDS66539
Canonical transcript exons
ENST00000519676 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002096074 | 45393316 | 45396015 |
| ENSE00002692420 | 45411362 | 45411480 |
| ENSE00003460024 | 45401083 | 45401207 |
| ENSE00003468564 | 45402275 | 45402370 |
| ENSE00003471425 | 45398940 | 45399078 |
| ENSE00003498427 | 45408927 | 45409074 |
| ENSE00003520583 | 45404327 | 45404412 |
| ENSE00003611955 | 45397258 | 45397338 |
| ENSE00003631537 | 45405883 | 45405977 |
| ENSE00003845739 | 45418300 | 45418373 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 96.21.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.7344 / max 88.6392, expressed in 1692 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 137093 | 6.7344 | 1692 |
Top tissues by expression
276 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| biceps brachii | UBERON:0001507 | 96.21 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 95.23 | gold quality |
| heart right ventricle | UBERON:0002080 | 93.07 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.01 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 92.90 | gold quality |
| renal medulla | UBERON:0000362 | 92.33 | gold quality |
| cardiac ventricle | UBERON:0002082 | 91.70 | gold quality |
| heart left ventricle | UBERON:0002084 | 91.63 | gold quality |
| apex of heart | UBERON:0002098 | 90.70 | gold quality |
| muscle of leg | UBERON:0001383 | 89.05 | gold quality |
| heart | UBERON:0000948 | 88.63 | gold quality |
| gastrocnemius | UBERON:0001388 | 88.48 | gold quality |
| right lobe of liver | UBERON:0001114 | 87.37 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.09 | gold quality |
| secondary oocyte | CL:0000655 | 87.05 | gold quality |
| right atrium auricular region | UBERON:0006631 | 86.83 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 86.36 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.35 | gold quality |
| muscle organ | UBERON:0001630 | 86.34 | gold quality |
| metanephros cortex | UBERON:0010533 | 86.32 | gold quality |
| liver | UBERON:0002107 | 86.27 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.95 | gold quality |
| cardiac atrium | UBERON:0002081 | 85.22 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 84.79 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 84.48 | gold quality |
| colonic epithelium | UBERON:0000397 | 84.02 | gold quality |
| cortex of kidney | UBERON:0001225 | 83.40 | gold quality |
| right coronary artery | UBERON:0001625 | 83.01 | gold quality |
| oocyte | CL:0000023 | 83.00 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 82.96 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6386 | no | 28.97 |
| E-ANND-3 | no | 5.30 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
140 targeting SLC25A30, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
Literature-anchored findings (GeneRIF, showing 1)
- Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Slc25a30 | ENSMUSG00000022003 |
| rattus_norvegicus | Slc25a30 | ENSRNOG00000001052 |
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), UCP3 (ENSG00000175564), UCP2 (ENSG00000175567)
Protein
Protein identifiers
Kidney mitochondrial carrier protein 1 — Q5SVS4 (reviewed: Q5SVS4)
Alternative names: Solute carrier family 25 member 30, Uncoupling protein 6
All UniProt accessions (5): Q5SVS4, A0A087WWR9, D6RJI0, E5RIS9, E5RIW6
UniProt curated annotations — full annotation on UniProt →
Function. Antiporter that transports inorganic anions (sulfate, sulfite, thiosulfate and phosphate) and, to a lesser extent, a variety of dicarboxylates (e.g. malonate, malate and citramalate) and, even more so, aspartate. The sulfate/sulfate exchange is much higher than the phosphate/phosphate and malate/malate exchanges. The transport affinities is higher for sulfate and thiosulfate than for any other substrate. May catalyze the export of sulfite and thiosulfate (the hydrogen sulfide degradation products) from the mitochondria, thereby modulating the level of the hydrogen sulfide. Also may mediate a very low unidirectional transport of sulfate, phosphate and (S)-malate.
Subunit / interactions. Interacts with VDAC1.
Subcellular location. Mitochondrion inner membrane.
Activity regulation. Increased activity at pH 6.0. sulfate/sulfate exchange activity is inhibited strongly by pyridoxal 5’-phosphate, bathophenanthroline and the organic mercurials mersalyl, p-chloromercuribenzoate and HgCl2.
Similarity. Belongs to the mitochondrial carrier (TC 2.A.29) family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5SVS4-1 | 1 | yes |
| Q5SVS4-2 | 2 |
RefSeq proteins (3): NP_001010875, NP_001273735, NP_001273736 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002067 | MCP | Family |
| IPR018108 | MCP_transmembrane | Repeat |
| IPR023395 | MCP_dom_sf | Homologous_superfamily |
| IPR050391 | Mito_Metabolite_Transporter | Family |
Pfam: PF00153
Catalyzed reactions (Rhea), 12 shown:
- phosphate(in) = phosphate(out) (RHEA:32823)
- sulfate(in) = sulfate(out) (RHEA:34983)
- (S)-malate(in) + sulfate(out) = (S)-malate(out) + sulfate(in) (RHEA:71615)
- sulfate(out) + phosphate(in) = sulfate(in) + phosphate(out) (RHEA:71631)
- oxalate(in) + sulfate(out) = oxalate(out) + sulfate(in) (RHEA:72275)
- malonate(in) + sulfate(out) = malonate(out) + sulfate(in) (RHEA:73195)
- maleate(in) + sulfate(out) = maleate(out) + sulfate(in) (RHEA:73199)
- sulfite(in) + sulfate(out) = sulfite(out) + sulfate(in) (RHEA:73207)
- thiosulfate(in) + sulfate(out) = thiosulfate(out) + sulfate(in) (RHEA:73215)
- (3S)-citramalate(in) + sulfate(out) = (3S)-citramalate(out) + sulfate(in) (RHEA:73223)
- (3R)-citramalate(in) + sulfate(out) = (3R)-citramalate(out) + sulfate(in) (RHEA:73227)
- L-aspartate(in) + sulfate(out) = L-aspartate(out) + sulfate(in) (RHEA:73395)
UniProt features (14 total): transmembrane region 6, repeat 3, initiator methionine 1, chain 1, modified residue 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5SVS4-F1 | 80.38 | 0.07 |
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): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 113 (showing top):
GOZGIT_ESR1_TARGETS_DN, GOBP_INORGANIC_ANION_TRANSPORT, MARTINEZ_RB1_TARGETS_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOCC_MITOCHONDRIAL_ENVELOPE, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, MARTINEZ_RB1_AND_TP53_TARGETS_UP, GOBP_TRANSMEMBRANE_TRANSPORT, CHIANG_LIVER_CANCER_SUBCLASS_CTNNB1_UP, chr13q14, GOCC_ORGANELLE_INNER_MEMBRANE, ZHENG_IL22_SIGNALING_UP, GEORGES_TARGETS_OF_MIR192_AND_MIR215, GOMF_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY
GO Biological Process (2): inorganic anion transport (GO:0015698), transmembrane transport (GO:0055085)
GO Molecular Function (3): solute:inorganic anion antiporter activity (GO:0005452), transmembrane transporter activity (GO:0022857), 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 |
|---|---|
| transport | 2 |
| cellular process | 1 |
| antiporter activity | 1 |
| transporter activity | 1 |
| transmembrane transport | 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
626 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC25A30 | MTCH1 | Q9NZJ7 | 662 |
| SLC25A30 | MTCH2 | Q9Y6C9 | 599 |
| SLC25A30 | SLC25A53 | Q5H9E4 | 451 |
| SLC25A30 | LGALS2 | P05162 | 423 |
| SLC25A30 | TMEM217 | Q8N7C4 | 406 |
| SLC25A30 | C2CD2L | O14523 | 396 |
| SLC25A30 | CRELD2 | Q6UXH1 | 381 |
| SLC25A30 | ERICH6B | Q5W0A0 | 372 |
| SLC25A30 | ZNF836 | Q6ZNA1 | 367 |
| SLC25A30 | TIMM8B | Q9Y5J9 | 349 |
| SLC25A30 | SLC25A51 | Q9H1U9 | 348 |
| SLC25A30 | SLC12A4 | Q9UP95 | 342 |
| SLC25A30 | CARD19 | Q96LW7 | 339 |
| SLC25A30 | ZNF285 | Q96NJ3 | 336 |
| SLC25A30 | SLC16A13 | Q7RTY0 | 329 |
IntAct
49 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DNAJB11 | HSPA5 | psi-mi:“MI:0914”(association) | 0.830 |
| TOR1AIP2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| BTN2A1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| CD79A | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| LRP1 | NME4 | psi-mi:“MI:0914”(association) | 0.530 |
| SDF4 | GTPBP6 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC22A15 | ZFPL1 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC22A16 | APBA3 | psi-mi:“MI:0914”(association) | 0.530 |
| ECE1 | SLC25A30 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CD79B | GOLIM4 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A16 | AGPAT2 | psi-mi:“MI:0914”(association) | 0.350 |
| NAXD | KDELR3 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC37A3 | CYB5R3 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-DRA | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| RAMP2 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| OSTM1 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| SV2A | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJA2 | DENND11 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC25 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CD80 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| MAGEA8 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| OPRL1 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| MGARP | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (56): SLC25A30 (Affinity Capture-MS), SLC25A30 (Affinity Capture-MS), SLC25A30 (Affinity Capture-MS), SLC25A30 (Affinity Capture-MS), SLC25A30 (Affinity Capture-MS), SLC25A30 (Affinity Capture-MS), SLC25A30 (Affinity Capture-MS), SLC25A30 (Affinity Capture-MS), SLC25A30 (Affinity Capture-MS), SLC25A30 (Affinity Capture-MS), SLC25A30 (Affinity Capture-MS), SLC25A30 (Affinity Capture-MS), SLC25A30 (Affinity Capture-MS), SLC25A30 (Affinity Capture-MS), SLC25A30 (Affinity Capture-MS)
ESM2 similar proteins: A6QR09, F1R4U0, F1RFX9, O43772, O46373, O77792, O95258, O97562, O97649, P02722, P05141, P12235, P12236, P22292, P32007, P32089, P48962, P51881, P53007, P55851, P70406, P79110, P97700, Q000K2, Q02978, Q05962, Q08DK4, Q09073, Q3SZI5, Q5PQM9, Q5R5A1, Q5R5A8, Q5SVS4, Q5U680, Q5XGI1, Q6GQ22, Q6QRN9, Q70HW3, Q8HXE3, Q8HXY2
Diamond homologs: A0PC02, A6SL61, A6ZXL1, A7ER02, A7TIQ0, B0G143, B3LH09, F1RFX9, G3Y1Q5, G5EE96, K3VFR5, O74439, O77792, O81845, O89035, O95258, O95847, O97562, O97649, P04575, P04633, P10861, P12242, P14271, P22292, P25874, P32332, P55851, P55916, P56499, P56500, P56501, P70406, P90992, P97700, Q02978, Q06143, Q07534, Q08DK7, Q18P97
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 66 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Adaptive Immune System | 9 | 6.0× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| adaptive immune response | 7 | 9.8× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1604 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:45397917:CGGT:C | donor_gain | 1.0000 |
| 13:45398934:TCTTA:T | donor_loss | 1.0000 |
| 13:45398935:CTTAC:C | donor_loss | 1.0000 |
| 13:45398936:TTAC:T | donor_loss | 1.0000 |
| 13:45398937:TAC:T | donor_loss | 1.0000 |
| 13:45398938:ACCTG:A | donor_loss | 1.0000 |
| 13:45398939:C:CA | donor_loss | 1.0000 |
| 13:45399074:TTGAG:T | acceptor_gain | 1.0000 |
| 13:45399075:TGAG:T | acceptor_gain | 1.0000 |
| 13:45399076:GAG:G | acceptor_gain | 1.0000 |
| 13:45399077:AG:A | acceptor_gain | 1.0000 |
| 13:45399078:GC:G | acceptor_loss | 1.0000 |
| 13:45399079:C:CA | acceptor_loss | 1.0000 |
| 13:45399079:C:CC | acceptor_gain | 1.0000 |
| 13:45399081:A:C | acceptor_gain | 1.0000 |
| 13:45399090:CCAT:C | acceptor_gain | 1.0000 |
| 13:45399091:C:T | acceptor_gain | 1.0000 |
| 13:45399091:CA:C | acceptor_gain | 1.0000 |
| 13:45399092:A:C | acceptor_gain | 1.0000 |
| 13:45399092:A:T | acceptor_gain | 1.0000 |
| 13:45399093:T:C | acceptor_gain | 1.0000 |
| 13:45399093:T:TC | acceptor_gain | 1.0000 |
| 13:45401081:A:AC | donor_gain | 1.0000 |
| 13:45401082:C:CC | donor_gain | 1.0000 |
| 13:45402269:GCTTA:G | donor_loss | 1.0000 |
| 13:45402270:CTTA:C | donor_loss | 1.0000 |
| 13:45402271:TTACC:T | donor_loss | 1.0000 |
| 13:45402272:TA:T | donor_loss | 1.0000 |
| 13:45402273:A:C | donor_loss | 1.0000 |
| 13:45402274:C:CG | donor_loss | 1.0000 |
AlphaMissense
1879 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:45397280:C:G | R271T | 0.999 |
| 13:45399072:G:C | S207R | 0.999 |
| 13:45399072:G:T | S207R | 0.999 |
| 13:45399074:T:G | S207R | 0.999 |
| 13:45401136:C:A | K187N | 0.999 |
| 13:45401136:C:G | K187N | 0.999 |
| 13:45409041:A:G | L33P | 0.999 |
| 13:45409049:C:A | K30N | 0.999 |
| 13:45409049:C:G | K30N | 0.999 |
| 13:45411370:G:T | A19D | 0.999 |
| 13:45411382:G:T | A15D | 0.999 |
| 13:45397302:C:G | G264R | 0.998 |
| 13:45399013:C:G | R227P | 0.998 |
| 13:45399029:C:G | D222H | 0.998 |
| 13:45401179:G:T | A173D | 0.998 |
| 13:45402366:C:G | R133P | 0.998 |
| 13:45404338:C:G | D128H | 0.998 |
| 13:45404349:G:T | A124D | 0.998 |
| 13:45404370:C:T | G117E | 0.998 |
| 13:45404382:C:T | G113E | 0.998 |
| 13:45405958:G:T | R78S | 0.998 |
| 13:45408927:C:T | G71E | 0.998 |
| 13:45408928:C:A | G71W | 0.998 |
| 13:45409044:C:G | R32P | 0.998 |
| 13:45409051:T:C | K30E | 0.998 |
| 13:45411371:C:G | A19P | 0.998 |
| 13:45397269:A:G | W275R | 0.997 |
| 13:45397269:A:T | W275R | 0.997 |
| 13:45397274:C:T | G273D | 0.997 |
| 13:45397279:T:A | R271S | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000000806 (13:45421104 C>T), RS1000006353 (13:45398110 C>A,T), RS1000032064 (13:45421360 C>A,G,T), RS1000062164 (13:45412613 G>T), RS1000123052 (13:45419958 G>A), RS1000206421 (13:45393562 AC>A), RS1000259672 (13:45427931 G>A,C), RS1000319582 (13:45393132 G>A,C,T), RS1000343687 (13:45434841 C>A), RS1000419132 (13:45435215 C>T), RS1000465884 (13:45416109 A>C), RS1000496876 (13:45416301 G>A), RS1000765027 (13:45432721 AC>A), RS1000788686 (13:45401933 G>A), RS1000837091 (13:45405432 C>T)
Disease associations
OMIM: gene MIM:610793 | 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 uncoupling proteins
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 8 |
| methylmercuric chloride | decreases expression | 2 |
| trichostatin A | affects expression, increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression, affects cotreatment, increases abundance | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| nickel sulfate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Rosiglitazone | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Amiodarone | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Estradiol | decreases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Quercetin | increases expression | 1 |
| Vanadates | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4JT | HCT116-SLC25A30-KO-c10 | Cancer cell line | Male |
| CVCL_D4JU | HCT116-SLC25A30-KO-c9 | Cancer cell line | Male |
| CVCL_TM32 | HAP1 SLC25A30 (-) | 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.