Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7352
Gene name	Uncoupling protein 3
Gene symbol	UCP3
Synonyms (NCBI Gene)	SLC25A9
Chromosome	11
Chromosome location	11q13.4
Summary	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 proto

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2229707	C>T	Benign, pathogenic	Missense variant, coding sequence variant
rs17848368	G>A	Pathogenic	Coding sequence variant, missense variant
rs45476292	C>A,T	Benign, pathogenic	Coding sequence variant, splice donor variant, synonymous variant
rs104894319	G>A	Pathogenic, likely-benign	Coding sequence variant, stop gained

Show/Hide all (95)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038202	hsa-miR-342-5p	CLASH	23622248
MIRT1472788	hsa-miR-1301	CLIP-seq
MIRT1472789	hsa-miR-1470	CLIP-seq
MIRT1472790	hsa-miR-193a-5p	CLIP-seq
MIRT1472791	hsa-miR-210	CLIP-seq
MIRT1472792	hsa-miR-214	CLIP-seq
MIRT1472793	hsa-miR-296-5p	CLIP-seq
MIRT1472794	hsa-miR-3158-3p	CLIP-seq
MIRT1472795	hsa-miR-3166	CLIP-seq
MIRT1472796	hsa-miR-34a	CLIP-seq
MIRT1472797	hsa-miR-34c-5p	CLIP-seq
MIRT1472798	hsa-miR-3619-5p	CLIP-seq
MIRT1472799	hsa-miR-3657	CLIP-seq
MIRT1472800	hsa-miR-3663-5p	CLIP-seq
MIRT1472801	hsa-miR-3688-5p	CLIP-seq
MIRT1472802	hsa-miR-3929	CLIP-seq
MIRT1472803	hsa-miR-3944-5p	CLIP-seq
MIRT1472804	hsa-miR-4419b	CLIP-seq
MIRT1472805	hsa-miR-4478	CLIP-seq
MIRT1472806	hsa-miR-449a	CLIP-seq
MIRT1472807	hsa-miR-449b	CLIP-seq
MIRT1472808	hsa-miR-4530	CLIP-seq
MIRT1472809	hsa-miR-4635	CLIP-seq
MIRT1472810	hsa-miR-4660	CLIP-seq
MIRT1472811	hsa-miR-4667-3p	CLIP-seq
MIRT1472812	hsa-miR-4669	CLIP-seq
MIRT1472813	hsa-miR-4716-5p	CLIP-seq
MIRT1472814	hsa-miR-4717-3p	CLIP-seq
MIRT1472815	hsa-miR-5047	CLIP-seq
MIRT1472816	hsa-miR-520d-5p	CLIP-seq
MIRT1472817	hsa-miR-524-5p	CLIP-seq
MIRT1472818	hsa-miR-526b	CLIP-seq
MIRT1472819	hsa-miR-542-5p	CLIP-seq
MIRT1472820	hsa-miR-545	CLIP-seq
MIRT1472821	hsa-miR-578	CLIP-seq
MIRT1472822	hsa-miR-598	CLIP-seq
MIRT1472823	hsa-miR-761	CLIP-seq
MIRT1557259	hsa-miR-1272	CLIP-seq
MIRT1557260	hsa-miR-1827	CLIP-seq
MIRT1557261	hsa-miR-3935	CLIP-seq
MIRT2362882	hsa-miR-130a	CLIP-seq
MIRT2362883	hsa-miR-130b	CLIP-seq
MIRT2362884	hsa-miR-148a	CLIP-seq
MIRT2362885	hsa-miR-148b	CLIP-seq
MIRT2362886	hsa-miR-152	CLIP-seq
MIRT2362887	hsa-miR-19a	CLIP-seq
MIRT2362888	hsa-miR-19b	CLIP-seq
MIRT2362889	hsa-miR-223	CLIP-seq
MIRT2362890	hsa-miR-301a	CLIP-seq
MIRT2362891	hsa-miR-301b	CLIP-seq
MIRT2362892	hsa-miR-30a	CLIP-seq
MIRT2362893	hsa-miR-30b	CLIP-seq
MIRT2362894	hsa-miR-30c	CLIP-seq
MIRT2362895	hsa-miR-30d	CLIP-seq
MIRT2362896	hsa-miR-30e	CLIP-seq
MIRT2362897	hsa-miR-3655	CLIP-seq
MIRT2362898	hsa-miR-3666	CLIP-seq
MIRT2362899	hsa-miR-4295	CLIP-seq
MIRT2362900	hsa-miR-454	CLIP-seq
MIRT2362901	hsa-miR-4697-3p	CLIP-seq
MIRT2362902	hsa-miR-4774-3p	CLIP-seq
MIRT1472820	hsa-miR-545	CLIP-seq
MIRT2434448	hsa-miR-370	CLIP-seq
MIRT2434449	hsa-miR-4740-3p	CLIP-seq
MIRT2434448	hsa-miR-370	CLIP-seq
MIRT2434449	hsa-miR-4740-3p	CLIP-seq
MIRT2434448	hsa-miR-370	CLIP-seq
MIRT2434449	hsa-miR-4740-3p	CLIP-seq
MIRT2362882	hsa-miR-130a	CLIP-seq
MIRT2362883	hsa-miR-130b	CLIP-seq
MIRT2362884	hsa-miR-148a	CLIP-seq
MIRT2362885	hsa-miR-148b	CLIP-seq
MIRT2362886	hsa-miR-152	CLIP-seq
MIRT2362887	hsa-miR-19a	CLIP-seq
MIRT2362888	hsa-miR-19b	CLIP-seq
MIRT2362889	hsa-miR-223	CLIP-seq
MIRT2362890	hsa-miR-301a	CLIP-seq
MIRT2362891	hsa-miR-301b	CLIP-seq
MIRT2362897	hsa-miR-3655	CLIP-seq
MIRT2362898	hsa-miR-3666	CLIP-seq
MIRT2362899	hsa-miR-4295	CLIP-seq
MIRT2362900	hsa-miR-454	CLIP-seq
MIRT2362901	hsa-miR-4697-3p	CLIP-seq
MIRT2656950	hsa-miR-1207-5p	CLIP-seq
MIRT2656951	hsa-miR-4459	CLIP-seq
MIRT2656952	hsa-miR-4722-5p	CLIP-seq
MIRT2656953	hsa-miR-4736	CLIP-seq
MIRT2656954	hsa-miR-4763-3p	CLIP-seq
MIRT2656955	hsa-miR-665	CLIP-seq
MIRT2656950	hsa-miR-1207-5p	CLIP-seq
MIRT2656951	hsa-miR-4459	CLIP-seq
MIRT2656952	hsa-miR-4722-5p	CLIP-seq
MIRT2656953	hsa-miR-4736	CLIP-seq
MIRT2656954	hsa-miR-4763-3p	CLIP-seq
MIRT2656955	hsa-miR-665	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000303	Process	Response to superoxide	IEA
GO:0000303	Process	Response to superoxide	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0005515	Function	Protein binding	IPI	24008843
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	9180264
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	TAS	9196039
GO:0006629	Process	Lipid metabolic process	TAS	10935638
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	TAS	9180264
GO:0009409	Process	Response to cold	IBA
GO:0014823	Process	Response to activity	IEA
GO:0015078	Function	Proton transmembrane transporter activity	IDA	11171965, 12670931
GO:0015078	Function	Proton transmembrane transporter activity	IEA
GO:0015085	Function	Calcium ion transmembrane transporter activity	IMP	21775425
GO:0016020	Component	Membrane	IEA
GO:0017077	Function	Oxidative phosphorylation uncoupler activity	IBA
GO:0017077	Function	Oxidative phosphorylation uncoupler activity	IDA	11707458
GO:0017077	Function	Oxidative phosphorylation uncoupler activity	IDA	9305858, 36114012
GO:0017077	Function	Oxidative phosphorylation uncoupler activity	IMP	21775425
GO:0017077	Function	Oxidative phosphorylation uncoupler activity	TAS	9196039
GO:0032868	Process	Response to insulin	IEA
GO:0032870	Process	Cellular response to hormone stimulus	IEA
GO:0048545	Process	Response to steroid hormone	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:1901373	Process	Lipid hydroperoxide transport	IEA
GO:1901557	Process	Response to fenofibrate	IEA
GO:1902600	Process	Proton transmembrane transport	IDA	11171965
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	TAS	9196039
GO:1990542	Process	Mitochondrial transmembrane transport	IBA
GO:1990845	Process	Adaptive thermogenesis	IBA

MIM	HGNC	e!Ensembl
602044	12519	ENSG00000175564

P55916

Protein name

Putative mitochondrial transporter UCP3 (Solute carrier family 25 member 9) (Uncoupling protein-3) (UCP 3)

Protein function

Putative transmembrane transporter that plays a role in mitochondrial metabolism via an as yet unclear mechanism (PubMed:21775425, PubMed:36114012). Originally, this mitochondrial protein was thought to act as a proton transmembrane transporter

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00153	Mito_carr	10 → 110	Mitochondrial carrier protein	Family
PF00153	Mito_carr	112 → 211	Mitochondrial carrier protein	Family
PF00153	Mito_carr	214 → 305	Mitochondrial carrier protein	Family

Tissue specificity

TISSUE SPECIFICITY: Only in skeletal muscle and heart (PubMed:9305858). Also expressed in white and brown adipose tissues (PubMed:9305858). Is more expressed in glycolytic than in oxidative skeletal muscles. {ECO:0000269|PubMed:9196039, ECO:0000269|PubMed

Sequence

MVGLKPSDVPPTMAVKFLGAGTAACFADLVTFPLDTAKVRLQIQGENQAVQTARLVQYRG
VLGTILTMVRTEGPCSPYNGLVAGLQRQMSFASIRIGLYDSVKQVYTPKGADNSSLTTRI
LAGCTTGAMAVTCAQPTDVVKVRFQASIHLGPSRSDRKYSGTMDAYRTIAREEGVRGLWK
GTLPNIMRNAIVNCAEVVTYDILKEKLLDYHLLTDNFPCHFVSAFGAGFCATVVASPVDV
VKTRYMNSPPGQYFSPLDCMIKMVAQEGPTAFYKGFTPSFLRLGSWNVVMFVTYEQLKRA
LMKVQMLRESPF

Sequence length

312

Interactions

View interactions

	Reactome
			The fatty acid cycling model The proton buffering model

129

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs45476292	RCV005887341
Adrenocortical carcinoma, hereditary	Benign	rs45476292	RCV005887344
Cervical cancer	Benign; Likely benign	rs45476292, rs17848372	RCV005887345 RCV005903002
Clear cell carcinoma of kidney	Benign	rs45476292	RCV005887346
Gastric cancer	Likely benign	rs17848372	RCV005903003
Hepatocellular carcinoma	Benign	rs45476292	RCV005887342
Inherited obesity	Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs2229707, rs104894319, rs17848368, rs747884430	RCV005394137 RCV003992148 RCV003992149 RCV004555952
Lung cancer	Benign	rs45476292	RCV005887353
Malignant tumor of esophagus	Benign	rs45476292	RCV005887343
Melanoma	Benign	rs45476292	RCV005887352
Morbid obesity	Benign	rs45476292	RCV000008016
Obesity	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs367566750, rs181883754, rs1047063799, rs763155375, rs370829405, rs192655642, rs70965455, rs77012485, rs17848372, rs773117397	RCV001331048 RCV002506846 RCV002482359 RCV002478055 RCV002506186 RCV002490844 RCV002489318 RCV002479029 RCV002505348 RCV000985018
Obesity, severe, and type II diabetes	Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs2229707, rs104894319, rs17848368	RCV000008013 RCV000008014 RCV000008017
Ovarian serous cystadenocarcinoma	Benign	rs45476292	RCV005887348
Sarcoma	Benign	rs45476292	RCV005887347
Short-rib thoracic dysplasia 13 with or without polydactyly	Benign	rs2229707	RCV004813030
Thymoma	Benign	rs45476292	RCV005887350
Thyroid cancer, nonmedullary, 1	Benign	rs45476292	RCV005887351
UCP3 POLYMORPHISM G/A	Benign	rs2229707	RCV000008012
UCP3 POLYMORPHISM, EXON 6 SPLICE DONOR JUNCTION	Benign	rs45476292	RCV000008015
UCP3-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs367566750, rs2075577, rs17848367, rs745356543, rs1047063799, rs763155375, rs140869187, rs74907838, rs199679366, rs202151585, rs371947420, rs8179179, rs781146737, rs745517663, rs143786748 View all (70 more)	RCV003426046 RCV003980742 RCV003976217 RCV003923326 RCV004749745 RCV003941153 RCV003923329 RCV003913453 RCV003404035 RCV003926701 RCV003434579 RCV004750283 RCV004749943 RCV003936369 RCV003409965 RCV004750236 RCV004750234 RCV003404137 RCV004750321 RCV003914820 RCV003974805 RCV003398463 RCV004750325 RCV003427665 RCV003396887 RCV003410341 RCV003399817 RCV003420805 RCV003412075 RCV003417031 RCV003417078 RCV003427863 RCV003417104 RCV003418748 RCV003392785 RCV003410681 RCV003402842 RCV003419105 RCV003419116 RCV003410663 RCV003420735 RCV003414305 RCV003391484 RCV003392810 RCV003402691 RCV003418817 RCV003908988 RCV004750385 RCV003939126 RCV003939144 RCV004750418 RCV003949041 RCV004750438 RCV004750447 RCV003896830 RCV003921487 RCV003921501 RCV003921738 RCV003981714 RCV003974333 RCV003893908 RCV003904568 RCV003904695 RCV003899734 RCV003901939 RCV003903987 RCV003912096 RCV003899592 RCV003899641 RCV003911688 RCV003927040 RCV003941548 RCV003959257 RCV003924336 RCV003937066 RCV003949313 RCV003934228 RCV003949216 RCV003954845 RCV003962264 RCV003967149 RCV004750471 RCV004748793 RCV003935821 RCV003983272 RCV004749536 RCV003925806
Uterine carcinosarcoma	Benign	rs45476292	RCV005887349
Uterine corpus endometrial carcinoma	Benign	rs45476292	RCV005887354

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	11875702
Breast Neoplasms	Associate	23257779
Carcinoma Renal Cell	Associate	26304588
Diabetes Mellitus	Associate	17150099, 19369366, 19769793, 9769326
Diabetes Mellitus Type 2	Associate	17150099, 19369366, 19769793, 28977211, 9769326
Diabetes Mellitus Type 2	Inhibit	18167556
Diabetic Retinopathy	Associate	32028915
Distal myopathy Nonaka type	Associate	12677001
Drug Related Side Effects and Adverse Reactions	Associate	23681825
Dyslipidemias	Associate	26332421
Hyperglycemia	Associate	18167556
Hypoxia	Associate	26304588
Inflammation	Associate	37932834
Insulin Resistance	Associate	36810017
Metabolic Diseases	Associate	10618503
Metabolic Syndrome	Associate	22811361
Mitochondrial Diseases	Stimulate	23257779
Myotonic Dystrophy	Associate	28977211
Neoplasms	Inhibit	23257779
Neoplasms	Associate	26304588, 32053908, 35090503
Neoplasms Adipose Tissue	Associate	11683368, 18234126
Non alcoholic Fatty Liver Disease	Associate	24124336
Obesity	Associate	10102249, 10480626, 10618503, 11683368, 11842047, 12740453, 18234126, 19039313, 19769793, 20054173, 21190973, 21544083, 24174365, 25755013, 28977211, 33372430, 36810017, 9389729, 9769326 View all (4 more)
Obesity Abdominal	Associate	19769793
Overweight	Associate	19039313
Porphyria Variegate	Associate	20331452
Prediabetic State	Associate	29529994
Pulmonary Disease Chronic Obstructive	Inhibit	16352674
Renal Insufficiency Chronic	Associate	19406964
Weight Gain	Associate	25755013
Weight Loss	Associate	10102249, 11875702, 24174365

UCP3 (uncoupling protein 3)