SLC25A27

Summary

SLC25A27 (solute carrier family 25 member 27, HGNC:21065) is a protein-coding gene on chromosome 6p12.3, encoding Mitochondrial uncoupling protein 4 (O95847). Facilitates proton transport across the inner mitochondrial membrane and may dissipate excessive proton gradient associated with oxidative and metabolic stress at neuronal synapses.

Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs 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. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 9481 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 42 total
• MANE Select transcript: NM_004277

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21065
Approved symbol	SLC25A27
Name	solute carrier family 25 member 27
Location	6p12.3
Locus type	gene with protein product
Status	Approved
Aliases	UCP4, FLJ33552
Ensembl gene	ENSG00000153291
Ensembl biotype	protein_coding
OMIM	613725
Entrez	9481

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000371347, ENST00000411689, ENST00000603486, ENST00000603501, ENST00000604127, ENST00000604217, ENST00000604616, ENST00000604908

RefSeq mRNA: 3 — MANE Select: NM_004277 NM_001204051, NM_001204052, NM_004277

CCDS: CCDS43470, CCDS56431

Canonical transcript exons

ENST00000371347 — 9 exons

Exon	Start	End
ENSE00001010018	46670135	46670227
ENSE00001879308	46676383	46678190
ENSE00002209004	46664774	46664886
ENSE00002491435	46658962	46659046
ENSE00002501976	46655843	46656034
ENSE00003615839	46662376	46662498
ENSE00003665910	46652975	46653298
ENSE00003687801	46668709	46668793
ENSE00003790801	46671126	46671228

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 99.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2829 / max 349.5925, expressed in 987 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
68132	3.5050	763
68133	3.4877	654
68131	1.0373	426
68130	0.2529	131

Top tissues by expression

253 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of stomach	UBERON:0001199	99.00	gold quality
adenohypophysis	UBERON:0002196	98.15	gold quality
left ovary	UBERON:0002119	97.85	gold quality
right uterine tube	UBERON:0001302	97.54	gold quality
right ovary	UBERON:0002118	97.16	gold quality
pituitary gland	UBERON:0000007	97.08	gold quality
cerebellar hemisphere	UBERON:0002245	97.05	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.04	gold quality
cerebellar cortex	UBERON:0002129	97.03	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.00	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.68	gold quality
lower esophagus	UBERON:0013473	96.65	gold quality
left lobe of thyroid gland	UBERON:0001120	96.54	gold quality
cerebellum	UBERON:0002037	96.39	gold quality
body of uterus	UBERON:0009853	95.96	gold quality
thyroid gland	UBERON:0002046	95.67	gold quality
right lobe of thyroid gland	UBERON:0001119	95.47	gold quality
endocervix	UBERON:0000458	95.45	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.41	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.38	gold quality
tibial nerve	UBERON:0001323	95.31	gold quality
calcaneal tendon	UBERON:0003701	94.82	gold quality
body of pancreas	UBERON:0001150	94.71	gold quality
right frontal lobe	UBERON:0002810	94.69	gold quality
left uterine tube	UBERON:0001303	94.41	gold quality
ovary	UBERON:0000992	94.35	gold quality
caudate nucleus	UBERON:0001873	94.20	gold quality
skin of abdomen	UBERON:0001416	93.93	gold quality
anterior cingulate cortex	UBERON:0009835	93.86	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.68	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-7	yes	96.08
E-ENAD-21	yes	92.14
E-ANND-3	yes	4.82

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFKB1, NFKB, NFKBIA, RELA

miRNA regulators (miRDB)

98 targeting SLC25A27, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4775	99.98	75.00	6394
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-MIR-4803	99.98	71.99	3117
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-335-3P	99.93	73.36	4958

Literature-anchored findings (GeneRIF, showing 16)

• Results suggest that mitochondrial UCP4 mediates an adaptive shift in energy metabolism and increases the resistance of neurons to metabolic and oxidative stress. (PMID:16775390)
• The stabilization of Ca(2+) homeostasis and preservation of mitochondrial function by UCP4 was correlated with reduced mitochondrial reactive oxygen species generation and oxidative stress. (PMID:17035241)
• These findings suggest that UCP2 and UCP4 have a modest but important involvement in the genetic etiology of schizophrenia. (PMID:17066476)
• overexpression increases neural cell survival by inducing oxidative phosphorylation, preserving ATP synthesis and mitochondrial membrane potential, and reducing oxidative stress. (PMID:19150400)
• Data describe how variants of mitochondrial uncoupling protein 4 (mUCP4) may contibute to development of multiple sclerosis, since mUCP4 is presumed to be of importance in regulation of the mitochondrial membrane potential and cellular energy metabolism. (PMID:19536655)
• has a significant role in NF-kappaB-mediated prosurvival signaling and cell protection against neurotoxins (PMID:20385226)
• A homozygous genetic variant of mitochondrial uncoupling protein 4 affects the occurrence of leukoaraiosis.( (PMID:20545631)
• the association found between the ultra-resistant schizophrenia group and the UCP4 haplotype is noteworthy as it may influence treatment outcome in schizophrenia. (PMID:21332312)
• UCP4 expression correlated with lymph node metastases, positive estrogen/progesterone receptor expression, and positivity for p53 and Ki-67 in breast carcinomas. (PMID:21621926)
• Findings show how UCP4 overexpression increases ATP synthesis by specifically interacting with Complex II. (PMID:22427795)
• Neuronal UCP4 exhibits transmembrane chloride transport activity. (PMID:22524567)
• UCP4 is a target effector gene of the NF-kappaB c-Rel prosurvival pathway to mitigate the effects of oxidative stress. (PMID:22580300)
• Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
• This study found that the variability of UCP4 does affect the individual susceptibility to Late-Onset Alzheimer’s Disease. (PMID:26923023)
• our results suggested DJ-1 might regulate the expression of UCP4 by oxidation of DJ-1 and partially via NF-kappaB pathway in its protective response to oxidative stress (PMID:29315581)
• This study evaluated the occurrence of a variant of UCP4 in patients with frontotemporal dementia, Parkinson disease, and healthy controls. (PMID:30425186)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc25a27	ENSDARG00000042873
mus_musculus	Slc25a27	ENSMUSG00000023912
rattus_norvegicus	Slc25a27	ENSRNOG00000010592
drosophila_melanogaster	Ucp4A	FBGN0030872
drosophila_melanogaster	Ucp4C	FBGN0031757
drosophila_melanogaster	Ucp4B	FBGN0031758
caenorhabditis_elegans		WBGENE00006729

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), SLC25A28 (ENSG00000155287), SLC25A44 (ENSG00000160785), SLC25A45 (ENSG00000162241), SLC25A34 (ENSG00000162461), SLC25A32 (ENSG00000164933), SLC25A6 (ENSG00000169100), SLC25A33 (ENSG00000171612), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564), UCP2 (ENSG00000175567)

Protein

Protein identifiers

Mitochondrial uncoupling protein 4 — O95847 (reviewed: O95847)

Alternative names: Solute carrier family 25 member 27

All UniProt accessions (4): O95847, Q5VTS8, S4R300, S4R3J2

UniProt curated annotations — full annotation on UniProt →

Function. Facilitates proton transport across the inner mitochondrial membrane and may dissipate excessive proton gradient associated with oxidative and metabolic stress at neuronal synapses. Regulates glutamate-induced proton conductance in astrocytes, shifting the energy metabolism toward aerobic glycolysis and lactate transfer to neurons for ATP synthesis. Can transport chloride ions with lower efficiency. The transport mechanism remains to be elucidated.

Subunit / interactions. Homotetramer.

Subcellular location. Mitochondrion inner membrane.

Tissue specificity. Found in adult and fetal brain. Present in most of the brain tissues, with low levels in spinal cord, corpus callosum and substantia nigra.

Activity regulation. Proton conductance is up-regulated by unsaturated long-chain fatty acids and inhibited by purine nucleotides ATP and ADP. The transport of chloride ions is partially inhibited by long-chain fatty acids.

Similarity. Belongs to the mitochondrial carrier (TC 2.A.29) family.

Isoforms (2)

UniProt ID	Names	Canonical?
O95847-1	1	yes
O95847-2	2

RefSeq proteins (3): NP_001190980, NP_001190981, NP_004268* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018108	MCP_transmembrane	Repeat
IPR023395	MCP_dom_sf	Homologous_superfamily
IPR050391	Mito_Metabolite_Transporter	Family

Pfam: PF00153

Catalyzed reactions (Rhea), 2 shown:

• chloride(in) = chloride(out) (RHEA:29823)
• H(+)(in) = H(+)(out) (RHEA:34979)

UniProt features (13 total): transmembrane region 6, repeat 3, sequence variant 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95847-F1	80.95	0.21

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-167826	The fatty acid cycling model

MSigDB gene sets: 165 (showing top): GOBP_ACYLGLYCEROL_HOMEOSTASIS, GOBP_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS, GOBP_CARBOHYDRATE_TRANSPORT, BENPORATH_ES_WITH_H3K27ME3, GOBP_RESPONSE_TO_COLD, MODULE_255, RORA1_01, FISCHER_G1_S_CELL_CYCLE, MODULE_317, GOBP_INORGANIC_ANION_TRANSPORT, TGACCTY_ERR1_Q2, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_MITOCHONDRIAL_CALCIUM_ION_HOMEOSTASIS, GOBP_LIPID_HOMEOSTASIS, GOBP_EAR_DEVELOPMENT

GO Biological Process (12): positive regulation of cell population proliferation (GO:0008284), response to cold (GO:0009409), negative regulation of mitochondrial membrane potential (GO:0010917), intracellular triglyceride homeostasis (GO:0035356), negative regulation of neuron apoptotic process (GO:0043524), regulation of D-glucose import across plasma membrane (GO:0046324), inner ear development (GO:0048839), negative regulation of mitochondrial calcium ion concentration (GO:0051562), negative regulation of apoptotic process (GO:0043066), transmembrane transport (GO:0055085), chloride transmembrane transport (GO:1902476), proton transmembrane transport (GO:1902600)

GO Molecular Function (4): 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 (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial membrane (GO:0031966), neuronal cell body (GO:0043025), apical part of cell (GO:0045177), 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
cellular anatomical structure	2
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
response to stress	1
response to temperature stimulus	1
negative regulation of membrane potential	1
regulation of mitochondrial membrane potential	1
intracellular chemical homeostasis	1
triglyceride homeostasis	1
negative regulation of apoptotic process	1
regulation of neuron apoptotic process	1
neuron apoptotic process	1
regulation of D-glucose transmembrane transport	1
D-glucose import across plasma membrane	1
ear development	1
anatomical structure development	1
mitochondrial calcium ion homeostasis	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
transport	1
cellular process	1
chloride transport	1
monoatomic anion transmembrane transport	1
monoatomic cation transmembrane transport	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
mitochondrion	1
mitochondrial envelope	1

Protein interactions and networks

STRING

522 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC25A27	PARK7	Q99497	671
SLC25A27	GPX7	Q96SL4	575
SLC25A27	GPX8	Q8TED1	574
SLC25A27	GPX6	P59796	569
SLC25A27	GPX5	O75715	569
SLC25A27	GPX2	P18283	566
SLC25A27	GPX3	P22352	559
SLC25A27	PPIF	P30405	551
SLC25A27	ACO2	Q99798	550
SLC25A27	PXDNL	A1KZ92	485
SLC25A27	PXDN	Q92626	484
SLC25A27	UCP2	P55851	458
SLC25A27	MTX2	O75431	420
SLC25A27	PPP1R26	Q5T8A7	402
SLC25A27	GPR152	Q8TDT2	396

IntAct

7 interactions, top by confidence:

A	B	Type	Score
NIT1	NDUFS6	psi-mi:“MI:0914”(association)	0.350
NIT1	PMPCB	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
PRKAR1A	SLC25A27	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (3): SLC25A27 (Affinity Capture-MS), SLC25A27 (Positive Genetic), SLC25A27 (Proximity Label-MS)

ESM2 similar proteins: A0A0G2K5L2, A0JN87, G3XP90, G3YAF3, O04619, O77792, O95847, O97562, P55851, P55916, P56499, P56500, P56501, P70406, Q08DK4, Q1LZB3, Q29RM1, Q2YDD9, Q3SZI5, Q3TZX3, Q3V132, Q4V9P0, Q505J6, Q5IS35, Q5NVC1, Q5R5A8, Q5RD81, Q5RFB7, Q5ZKP7, Q6DG32, Q6P036, Q6PGY3, Q7K566, Q8BZ09, Q922G0, Q96CQ1, Q99JD3, Q9BQT8, Q9BSK2, Q9C5M0

Diamond homologs: A0A1D6N272, A1DI57, A2ASZ8, A2CEQ0, A2R5A0, A3LVX1, A4RF23, A5DIS9, A5DX39, A6RF73, A6SL61, A7ER02, A7TIQ0, B4FIJ0, F4JU70, O04619, O94370, O95847, P29518, P49382, Q05AQ3, Q0CEN9, Q0P483, Q0UUH1, Q1E7P0, Q29RM1, Q2HFL6, Q2UCW8, Q3ZBJ8, Q4X022, Q54VS7, Q552L9, Q55E45, Q59Q36, Q5AVW1, Q5IS35, Q5NVC1, Q5PQ27, Q5XH95, Q5XHA0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NfKb-p65/p50	“up-regulates quantity by expression”	SLC25A27	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

42 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1892 predictions. Top by Δscore:

Variant	Effect	Δscore
6:46653295:C:G	donor_gain	1.0000
6:46658960:A:AG	acceptor_gain	1.0000
6:46658961:G:GG	acceptor_gain	1.0000
6:46658961:GT:G	acceptor_gain	1.0000
6:46662496:GCG:G	donor_gain	1.0000
6:46662499:G:GC	donor_loss	1.0000
6:46662500:TAA:T	donor_loss	1.0000
6:46670224:G:GT	donor_gain	1.0000
6:46670225:A:T	donor_gain	1.0000
6:46671235:T:G	donor_gain	1.0000
6:46653294:GC:G	donor_gain	0.9900
6:46655841:A:AG	acceptor_gain	0.9900
6:46655842:G:GG	acceptor_gain	0.9900
6:46656026:GACAC:G	donor_gain	0.9900
6:46656031:G:GG	donor_gain	0.9900
6:46658960:AGT:A	acceptor_gain	0.9900
6:46658961:GTG:G	acceptor_gain	0.9900
6:46658961:GTGT:G	acceptor_gain	0.9900
6:46659047:G:A	donor_loss	0.9900
6:46659047:G:GG	donor_gain	0.9900
6:46659048:T:G	donor_loss	0.9900
6:46659049:AA:A	donor_loss	0.9900
6:46662370:A:AG	acceptor_gain	0.9900
6:46662371:ATTAG:A	acceptor_loss	0.9900
6:46662373:T:G	acceptor_loss	0.9900
6:46662499:G:GG	donor_gain	0.9900
6:46662501:AAGT:A	donor_loss	0.9900
6:46668789:TCAAG:T	donor_loss	0.9900
6:46668790:CAAG:C	donor_loss	0.9900
6:46668792:AGGT:A	donor_loss	0.9900

AlphaMissense

2073 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:46670189:A:C	K253N	1.000
6:46670189:A:T	K253N	1.000
6:46655867:A:T	K44I	0.999
6:46655868:A:C	K44N	0.999
6:46655868:A:T	K44N	0.999
6:46655876:T:C	L47P	0.999
6:46656004:G:A	G90R	0.999
6:46656004:G:C	G90R	0.999
6:46656005:G:A	G90E	0.999
6:46656026:G:C	R97T	0.999
6:46662437:G:C	D149H	0.999
6:46662441:T:C	L150P	0.999
6:46662448:G:C	K152N	0.999
6:46662448:G:T	K152N	0.999
6:46664841:G:C	G192R	0.999
6:46664842:G:A	G192D	0.999
6:46664884:G:A	G206E	0.999
6:46670176:C:A	A249D	0.999
6:46670178:G:C	D250H	0.999
6:46670187:A:G	K253E	0.999
6:46670188:A:T	K253I	0.999
6:46671156:C:G	C276W	0.999
6:46671202:G:C	G292R	0.999
6:46653290:C:A	A33D	0.998
6:46655866:A:G	K44E	0.998
6:46656026:G:T	R97I	0.998
6:46656027:A:C	R97S	0.998
6:46656027:A:T	R97S	0.998
6:46659001:G:C	R113P	0.998
6:46662405:G:A	G138D	0.998

dbSNP variants (sampled 300 via entrez): RS1000136848 (6:46670810 T>A), RS1000217349 (6:46654846 C>A), RS1000231260 (6:46658724 G>A), RS1000245782 (6:46664587 C>A,T), RS1000262228 (6:46658429 G>A), RS1000341064 (6:46657925 C>G), RS1000437956 (6:46657355 C>T), RS1000459848 (6:46677241 G>A,C), RS1000573937 (6:46652032 C>T), RS1000589404 (6:46655541 T>A,G), RS1000594413 (6:46671380 C>T), RS1000871007 (6:46676656 C>T), RS1000894923 (6:46657570 C>A,G), RS1001151919 (6:46665482 G>A,T), RS1001188530 (6:46668655 C>A,T)

Disease associations

OMIM: gene MIM:613725 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002705_3	Hashimoto thyroiditis versus Graves’ disease	1.000000e-06
GCST003264_1008	Post bronchodilator FEV1/FVC ratio	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004713	FEV/FVC ratio

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
rs2270450	SLC25A27, TDRD6		0.00	0
rs3757241	CYP39A1, SLC25A27		0.00	0
rs9395206	SLC25A27		0.00	0
rs10807344	CYP39A1, SLC25A27		0.00	0

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, decreases expression, affects expression, increases expression	5
1-Methyl-4-phenylpyridinium	increases expression, affects response to substance, affects reaction	3
Estradiol	affects expression, decreases expression	2
Nickel	decreases expression	2
Tunicamycin	increases expression	2
Cyclosporine	decreases expression, increases expression	2
bisphenol A	increases expression	1
trichostatin A	increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
4-hydroxy-2-nonenal	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression	1
Calcitriol	increases expression	1
Cycloheximide	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Fluorouracil	decreases expression	1
Lead	affects expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	increases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
Lactic Acid	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D4JM	HCT116-SLC25A27-KO-c2	Cancer cell line	Male
CVCL_D4JN	HCT116-SLC25A27-KO-c3	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.