SLC25A14
gene geneOn this page
Also known as BMCP1UCP5
Summary
SLC25A14 (solute carrier family 25 member 14, HGNC:10984) is a protein-coding gene on chromosome Xq26.1, encoding Brain mitochondrial carrier protein 1 (O95258). 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 and glutamate and tricarboxylates.
Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). Uncoupling proteins separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. Uncoupling proteins facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 4.
Source: NCBI Gene 9016 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 101 total
- MANE Select transcript:
NM_001282195
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10984 |
| Approved symbol | SLC25A14 |
| Name | solute carrier family 25 member 14 |
| Location | Xq26.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BMCP1, UCP5 |
| Ensembl gene | ENSG00000102078 |
| Ensembl biotype | protein_coding |
| OMIM | 300242 |
| Entrez | 9016 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 8 protein_coding_CDS_not_defined, 7 protein_coding
ENST00000218197, ENST00000339231, ENST00000361980, ENST00000424447, ENST00000464184, ENST00000464342, ENST00000465988, ENST00000467346, ENST00000467496, ENST00000471795, ENST00000478474, ENST00000495156, ENST00000543953, ENST00000545805, ENST00000612248
RefSeq mRNA: 4 — MANE Select: NM_001282195
NM_001282195, NM_001282196, NM_001282197, NM_001282198
CCDS: CCDS14623, CCDS14624, CCDS76020, CCDS76021
Canonical transcript exons
ENST00000545805 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003484613 | 130371564 | 130371644 |
| ENSE00003533313 | 130349251 | 130349345 |
| ENSE00003554954 | 130358640 | 130358735 |
| ENSE00003577591 | 130350646 | 130350731 |
| ENSE00003592341 | 130364628 | 130364752 |
| ENSE00003619948 | 130346544 | 130346691 |
| ENSE00003651437 | 130365541 | 130365676 |
| ENSE00003658911 | 130345182 | 130345275 |
| ENSE00003846602 | 130339919 | 130339976 |
| ENSE00003849862 | 130372909 | 130373357 |
| ENSE00003891622 | 130340107 | 130340353 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 97.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.6473 / max 132.9588, expressed in 1730 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 197550 | 4.3399 | 1630 |
| 197551 | 2.3074 | 1180 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.99 | gold quality |
| oocyte | CL:0000023 | 95.91 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.63 | gold quality |
| endothelial cell | CL:0000115 | 94.41 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 94.35 | gold quality |
| sperm | CL:0000019 | 93.90 | gold quality |
| male germ cell | CL:0000015 | 93.67 | gold quality |
| right uterine tube | UBERON:0001302 | 93.23 | gold quality |
| pituitary gland | UBERON:0000007 | 92.91 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.69 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 91.03 | silver quality |
| epithelium of nasopharynx | UBERON:0001951 | 90.72 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 90.71 | gold quality |
| nasopharynx | UBERON:0001728 | 90.70 | gold quality |
| nucleus accumbens | UBERON:0001882 | 90.44 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.27 | gold quality |
| bronchial epithelial cell | CL:0002328 | 90.23 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.22 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 90.01 | gold quality |
| primary visual cortex | UBERON:0002436 | 90.01 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 89.97 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 89.88 | gold quality |
| type B pancreatic cell | CL:0000169 | 89.82 | gold quality |
| bronchus | UBERON:0002185 | 89.60 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.51 | gold quality |
| gingival epithelium | UBERON:0001949 | 89.37 | silver quality |
| hair follicle | UBERON:0002073 | 89.36 | gold quality |
| olfactory bulb | UBERON:0002264 | 89.21 | gold quality |
| cerebellum | UBERON:0002037 | 89.01 | gold quality |
| occipital lobe | UBERON:0002021 | 88.88 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6379 | no | 299.29 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F4
Literature-anchored findings (GeneRIF, showing 9)
- expressed in skeletal muscle as three different isoforms; expression level of UCP5SI positively correlated with resting metabolic rate and lipid oxidation rate during a euglycemic clamp with infusion of insulin at a physiologic concentration (PMID:12051969)
- UCP5 might be physiologically important in the pathology of oxidative stress-induced neurodegeneration (PMID:16941493)
- These findings suggest that UCP2 and UCP4 have a modest but important involvement in the genetic etiology of schizophrenia. (PMID:17066476)
- The brain may respond to neuroprotection through the increased expression of UCP5 under ischemic conditions. (PMID:18018477)
- The enhanced level of UCP5 is associated to mitochondrial dysfunction in colonic cells. (PMID:19910678)
- observed significant associations between genetic variants in the SIRT6 and UCP5 genes and atherosclerotic plaque (PMID:22087257)
- Neuronal UCP5 exhibits transmembrane chloride transport activity. (PMID:22524567)
- Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
- Increased expression of cerebral UCP5 and UCP4 is observed in a model of high altitude hypoxia and mitochondrial oxidative phosphorylation deficiency. (PMID:23266757)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Slc25a14 | ENSMUSG00000031105 |
| rattus_norvegicus | Slc25a14 | ENSRNOG00000006871 |
Paralogs (49): SLC25A13 (ENSG00000004864), SLC25A5 (ENSG00000005022), SLC25A39 (ENSG00000013306), SLC25A40 (ENSG00000075303), SLC25A3 (ENSG00000075415), SLC25A43 (ENSG00000077713), SLC25A24 (ENSG00000085491), SLC25A1 (ENSG00000100075), SLC25A17 (ENSG00000100372), 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
Brain mitochondrial carrier protein 1 — O95258 (reviewed: O95258)
Alternative names: Mitochondrial uncoupling protein 5, Solute carrier family 25 member 14
All UniProt accessions (3): O95258, F6SL11, Q5JY88
UniProt curated annotations — full annotation on UniProt →
Function. 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 and glutamate and tricarboxylates. 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 can mediate a very low unidirectional transport of anions including sulfate, phosphate, (S)-malate, citrate, L-aspartate and L-glutamate. Maintains oxidative balance (through uncoupling activities) and ATP production (by modifying mitochondrial membrane potential). Is able to transport protons across lipid membranes. Also exhibits transmembrane chloride transport activity to a lesser extent. May modify mitochondrial respiratory efficiency and mitochondrial oxidant production.
Subunit / interactions. Homotetramer.
Subcellular location. Mitochondrion inner membrane.
Tissue specificity. Mainly expressed in brain. Some expression in testis and pituitary.
Activity regulation. Increased activity at pH lower than 8.0. sulfate/sulfate exchange activity is inhibited strongly by pyridoxal 5’-phosphate, bathophenanthroline and the organic mercurials mersalyl, p-chloromercuribenzoate and HgCl2. Proton conductance is activated by cardiolipin and long-chain free fatty acids and inhibited by purine nucleotides ATP and ADP. Chloride ion transporter activity is inhibited by long-chain free fatty acids.
Similarity. Belongs to the mitochondrial carrier (TC 2.A.29) family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95258-1 | 1, UCP5L | yes |
| O95258-2 | 2, UCP5S | |
| O95258-3 | 3, UCP5SI |
RefSeq proteins (4): NP_001269124, NP_001269125, NP_001269126, NP_001269127 (=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:
- chloride(in) = chloride(out) (RHEA:29823)
- phosphate(in) = phosphate(out) (RHEA:32823)
- citrate(in) = citrate(out) (RHEA:33183)
- H(+)(in) = H(+)(out) (RHEA:34979)
- sulfate(in) = sulfate(out) (RHEA:34983)
- L-aspartate(out) = L-aspartate(in) (RHEA:66332)
- L-glutamate(out) = L-glutamate(in) (RHEA:66336)
- (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)
UniProt features (13 total): transmembrane region 6, repeat 3, splice variant 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95258-F1 | 78.82 | 0.25 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-167826 | The fatty acid cycling model |
MSigDB gene sets: 155 (showing top):
E2F4DP1_01, ENK_UV_RESPONSE_KERATINOCYTE_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, MODULE_493, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, E2F_Q3, GOBP_CHLORIDE_TRANSPORT, DOANE_RESPONSE_TO_ANDROGEN_DN, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOCC_MITOCHONDRIAL_ENVELOPE, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GATA1_03, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P
GO Biological Process (6): aerobic respiration (GO:0009060), inorganic anion transport (GO:0015698), regulation of cellular response to oxidative stress (GO:1900407), transmembrane transport (GO:0055085), chloride transmembrane transport (GO:1902476), proton transmembrane transport (GO:1902600)
GO Molecular Function (5): solute:inorganic anion antiporter activity (GO:0005452), proton transmembrane transporter activity (GO:0015078), chloride transmembrane transporter activity (GO:0015108), transmembrane transporter activity (GO:0022857), protein homodimerization activity (GO:0042803)
GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial Uncoupling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 2 |
| cellular respiration | 1 |
| cellular response to oxidative stress | 1 |
| regulation of cellular response to stress | 1 |
| regulation of response to oxidative stress | 1 |
| cellular process | 1 |
| chloride transport | 1 |
| monoatomic anion transmembrane transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| antiporter activity | 1 |
| monoatomic cation transmembrane transporter activity | 1 |
| proton transmembrane transport | 1 |
| monoatomic anion transmembrane transporter activity | 1 |
| chloride transmembrane transport | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
740 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC25A14 | OPN1LW | P04000 | 668 |
| SLC25A14 | PARK7 | Q99497 | 648 |
| SLC25A14 | NYX | Q9GZU5 | 636 |
| SLC25A14 | GPX7 | Q96SL4 | 569 |
| SLC25A14 | GPX8 | Q8TED1 | 569 |
| SLC25A14 | GPX6 | P59796 | 567 |
| SLC25A14 | GPX5 | O75715 | 567 |
| SLC25A14 | GPX2 | P18283 | 566 |
| SLC25A14 | GPX3 | P22352 | 561 |
| SLC25A14 | ACO2 | Q99798 | 539 |
| SLC25A14 | PPIF | P30405 | 500 |
| SLC25A14 | PXDNL | A1KZ92 | 475 |
| SLC25A14 | PXDN | Q92626 | 474 |
| SLC25A14 | FRMD7 | Q6ZUT3 | 468 |
| SLC25A14 | SOX3 | P35714 | 468 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| POLR3E | POLR3A | psi-mi:“MI:0914”(association) | 0.730 |
| TOR1AIP2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| BTN2A1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| VSIG4 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| LAMP3 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| PDCD1 | RTL8C | psi-mi:“MI:0914”(association) | 0.530 |
| IMPDH1 | BCAT2 | psi-mi:“MI:0914”(association) | 0.530 |
| SDF4 | GTPBP6 | psi-mi:“MI:0914”(association) | 0.530 |
| SPACA1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SV2A | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC25 | 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 |
| GLMP | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| EDEM2 | HACD1 | psi-mi:“MI:0914”(association) | 0.350 |
| CD79B | GOLIM4 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR12 | TLCD2 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM131B | UQCRQ | psi-mi:“MI:0914”(association) | 0.350 |
| CD3D | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| MUC20 | RAD51B | psi-mi:“MI:0914”(association) | 0.350 |
| UPK2 | NRP2 | psi-mi:“MI:0914”(association) | 0.350 |
| PMEL | MAN1A2 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNG6 | TSPAN3 | psi-mi:“MI:0914”(association) | 0.350 |
| WFDC11 | PLXNA2 | psi-mi:“MI:0914”(association) | 0.350 |
| SPOCK2 | VPS4B | psi-mi:“MI:0914”(association) | 0.350 |
| HS3ST4 | IPO13 | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS5 | SLC25A14 | psi-mi:“MI:0914”(association) | 0.350 |
| TOR1AIP2 | XPO1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (74): SLC25A14 (Affinity Capture-MS), SLC25A14 (Affinity Capture-MS), SLC25A14 (Affinity Capture-MS), SLC25A14 (Affinity Capture-MS), SLC25A14 (Affinity Capture-MS), SLC25A14 (Affinity Capture-MS), SLC25A14 (Affinity Capture-MS), SLC25A14 (Affinity Capture-MS), SLC25A14 (Affinity Capture-MS), SLC25A14 (Affinity Capture-MS), SLC25A14 (Affinity Capture-MS), SLC25A14 (Affinity Capture-MS), SLC25A14 (Affinity Capture-MS), SLC25A14 (Affinity Capture-MS), SLC25A14 (Affinity Capture-MS)
ESM2 similar proteins: A0JN87, A6QR09, F1R4U0, F1RFX9, O22261, O43772, O43808, O70579, O77792, O95258, O97562, O97649, P55851, P55916, P56499, P56501, P70406, P97521, Q08DK4, Q287T7, Q3SZI5, Q4V9P0, Q5R5A8, Q5RD81, Q5RFB7, Q5U680, Q5ZKP7, Q641C8, Q66H23, Q6DG32, Q6GLA2, Q6IZB5, Q70HW3, Q8BMG8, Q8HXY2, Q8R0Z5, Q920G8, Q922G0, Q95J75, Q96A46
Diamond homologs: A0JN87, A2A3V2, A4RPU0, F1LZW6, G3YAF3, G3YFS7, O04200, O43772, O77792, O95258, O97649, P16260, P33303, P39953, P97521, Q03028, Q08DK7, Q12482, Q3ZBJ8, Q54FE6, Q54RB9, Q54S10, Q55GE2, Q5HZE0, Q5RFB7, Q68F18, Q6GLJ0, Q6PGY3, Q75AH6, Q7DNC3, Q86AV5, Q86I81, Q8BL03, Q8BZ09, Q8HXW2, Q8HXY2, Q8WUT9, Q93XM7, Q99297, Q99JD3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
101 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1515 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:130346538:TTATA:T | acceptor_loss | 1.0000 |
| X:130346539:TATA:T | acceptor_loss | 1.0000 |
| X:130346541:TA:T | acceptor_loss | 1.0000 |
| X:130346542:A:AC | acceptor_loss | 1.0000 |
| X:130346542:A:AG | acceptor_gain | 1.0000 |
| X:130346542:AG:A | acceptor_gain | 1.0000 |
| X:130346543:G:C | acceptor_loss | 1.0000 |
| X:130346543:G:GG | acceptor_gain | 1.0000 |
| X:130346543:GG:G | acceptor_gain | 1.0000 |
| X:130346632:G:T | donor_gain | 1.0000 |
| X:130346666:G:GT | donor_gain | 1.0000 |
| X:130346667:A:T | donor_gain | 1.0000 |
| X:130346690:GG:G | donor_gain | 1.0000 |
| X:130346691:GG:G | donor_gain | 1.0000 |
| X:130349248:CAG:C | acceptor_loss | 1.0000 |
| X:130349249:A:AG | acceptor_gain | 1.0000 |
| X:130349249:AG:A | acceptor_loss | 1.0000 |
| X:130349250:G:GA | acceptor_gain | 1.0000 |
| X:130349250:GA:G | acceptor_gain | 1.0000 |
| X:130349250:GAA:G | acceptor_gain | 1.0000 |
| X:130349250:GAAT:G | acceptor_gain | 1.0000 |
| X:130349250:GAATT:G | acceptor_gain | 1.0000 |
| X:130349342:GAAG:G | donor_gain | 1.0000 |
| X:130349347:T:G | donor_loss | 1.0000 |
| X:130358633:A:AG | acceptor_gain | 1.0000 |
| X:130358638:A:AG | acceptor_gain | 1.0000 |
| X:130358639:G:GA | acceptor_gain | 1.0000 |
| X:130358639:GA:G | acceptor_gain | 1.0000 |
| X:130358639:GATT:G | acceptor_gain | 1.0000 |
| X:130358639:GATTC:G | acceptor_gain | 1.0000 |
AlphaMissense
2125 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:130346569:A:C | K65N | 1.000 |
| X:130346569:A:T | K65N | 1.000 |
| X:130346577:T:C | L68P | 1.000 |
| X:130364628:G:C | G199R | 1.000 |
| X:130364644:C:A | A204D | 1.000 |
| X:130364649:C:A | R206S | 1.000 |
| X:130364650:G:C | R206P | 1.000 |
| X:130364656:C:A | A208D | 1.000 |
| X:130364699:G:C | K222N | 1.000 |
| X:130364699:G:T | K222N | 1.000 |
| X:130345248:G:C | G48R | 0.999 |
| X:130345255:C:A | A50D | 0.999 |
| X:130345267:C:A | A54D | 0.999 |
| X:130346558:G:C | D62H | 0.999 |
| X:130346559:A:G | D62G | 0.999 |
| X:130346562:T:C | L63P | 0.999 |
| X:130346567:A:G | K65E | 0.999 |
| X:130346568:A:T | K65I | 0.999 |
| X:130346574:G:C | R67P | 0.999 |
| X:130346691:G:A | G106E | 0.999 |
| X:130349271:G:C | R113T | 0.999 |
| X:130349271:G:T | R113I | 0.999 |
| X:130349272:A:C | R113S | 0.999 |
| X:130349272:A:T | R113S | 0.999 |
| X:130349285:G:C | G118R | 0.999 |
| X:130350675:G:A | G148R | 0.999 |
| X:130350675:G:C | G148R | 0.999 |
| X:130350675:G:T | G148W | 0.999 |
| X:130350676:G:A | G148E | 0.999 |
| X:130350687:G:A | G152R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000082474 (X:130359528 T>C), RS1000198001 (X:130354654 A>G), RS1000220450 (X:130360989 A>G), RS1000275855 (X:130343481 A>C,G), RS1000352631 (X:130365443 G>T), RS1000700043 (X:130373569 A>C), RS1000812304 (X:130373391 C>T), RS1000821118 (X:130363279 A>G,T), RS1000873456 (X:130347648 G>A), RS1000891638 (X:130366119 T>C), RS1000979601 (X:130349212 A>G), RS1001015283 (X:130340988 T>C), RS1001017785 (X:130362217 A>C,G), RS1001208225 (X:130357928 AAC>A), RS1001220194 (X:130356824 A>C)
Disease associations
OMIM: gene MIM:300242 | 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)
PharmGKB variants
4 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs1010978 | SLC25A14 | 0.00 | 0 | ||
| rs2235800 | SLC25A14 | 0.00 | 0 | ||
| rs2239483 | SLC25A14 | 0.00 | 0 | ||
| rs5977250 | SLC25A14 | 0.00 | 0 |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — Mitochondrial uncoupling proteins
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| 1-Methyl-4-phenylpyridinium | increases expression, decreases reaction, increases reaction, increases abundance, decreases response to substance | 3 |
| Leflunomide | decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate | affects expression, affects response to substance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| Acetaminophen | increases expression | 1 |
| Adenosine Triphosphate | decreases chemical synthesis | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Cisplatin | increases expression | 1 |
| Dactinomycin | decreases reaction, increases expression | 1 |
| Dopamine | decreases reaction, increases expression, increases abundance, decreases response to substance | 1 |
| Doxorubicin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Smoke | increases expression, increases abundance | 1 |
| Superoxides | increases abundance, decreases reaction | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Fenretinide | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4CL | HCT116-SLC25A14-KO-c10 | Cancer cell line | Male |
| CVCL_D4CM | HCT116-SLC25A14-KO-c11 | Cancer cell line | Male |
| CVCL_TM13 | HAP1 SLC25A14 (-) 1 | Cancer cell line | Male |
| CVCL_TM14 | HAP1 SLC25A14 (-) 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.