UCP3
Basic information
Region (hg38): 11:74000276-74009085
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (46 variants)
- UCP3-related condition (29 variants)
- Inborn genetic diseases (14 variants)
- Obesity (10 variants)
- not specified (9 variants)
- Obesity, severe, and type II diabetes (3 variants)
- UCP3 POLYMORPHISM, EXON 6 SPLICE DONOR JUNCTION (1 variants)
- UCP3 POLYMORPHISM G/A (1 variants)
- Morbid obesity (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the UCP3 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 10 | 15 | ||||
missense | 49 | 53 | ||||
nonsense | 0 | |||||
start loss | 1 | |||||
frameshift | 1 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 1 | 1 | 2 | |||
non coding ? | 10 | |||||
Total | 0 | 0 | 54 | 12 | 14 |
Variants in UCP3
This is a list of pathogenic ClinVar variants found in the UCP3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-74001428-C-T | UCP3-related disorder | Uncertain significance (Dec 20, 2023) | ||
11-74001429-G-A | not specified • Obesity • UCP3-related disorder | Conflicting classifications of pathogenicity (Aug 23, 2023) | ||
11-74001429-G-GT | UCP3-related disorder | Uncertain significance (Jan 24, 2024) | ||
11-74001440-A-C | UCP3-related disorder | Uncertain significance (Dec 19, 2022) | ||
11-74001446-A-C | not specified | Uncertain significance (Aug 24, 2021) | ||
11-74001468-C-T | UCP3-related disorder • not specified | Uncertain significance (Jan 23, 2024) | ||
11-74001470-T-C | not specified | Uncertain significance (Dec 15, 2022) | ||
11-74001477-C-T | UCP3-related disorder | Uncertain significance (Dec 15, 2023) | ||
11-74001478-G-A | UCP3-related disorder | Likely benign (Dec 14, 2022) | ||
11-74001499-T-C | UCP3-related disorder | Likely benign (Oct 06, 2021) | ||
11-74001503-A-G | UCP3-related disorder | Uncertain significance (Mar 01, 2024) | ||
11-74001506-C-T | UCP3-related disorder | Uncertain significance (Dec 11, 2022) | ||
11-74001507-G-A | Uncertain significance (Jul 10, 2023) | |||
11-74001509-A-G | UCP3-related disorder • not specified | Uncertain significance (Jan 24, 2024) | ||
11-74001514-G-A | Likely benign (Aug 07, 2023) | |||
11-74001663-G-GTC | Benign (Nov 12, 2018) | |||
11-74001725-G-GA | Benign (Jun 19, 2021) | |||
11-74001814-T-C | Benign (Nov 12, 2018) | |||
11-74003294-G-A | Benign (Nov 02, 2020) | |||
11-74003582-G-A | Uncertain significance (Jun 15, 2021) | |||
11-74003826-C-T | UCP3 POLYMORPHISM, EXON 6 SPLICE DONOR JUNCTION • Morbid obesity • UCP3-related disorder | Benign (Jan 18, 2024) | ||
11-74003829-C-T | UCP3-related disorder | Likely benign (Aug 26, 2022) | ||
11-74003846-G-A | Uncertain significance (May 24, 2022) | |||
11-74003852-C-T | UCP3-related disorder | Uncertain significance (Dec 27, 2023) | ||
11-74003858-C-A | not specified | Uncertain significance (Feb 28, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
UCP3 | protein_coding | protein_coding | ENST00000314032 | 6 | 9155 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
9.55e-10 | 0.0471 | 124047 | 54 | 1647 | 125748 | 0.00679 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.306 | 218 | 206 | 1.06 | 0.0000130 | 2015 |
Missense in Polyphen | 79 | 75.707 | 1.0435 | 672 | ||
Synonymous | -1.29 | 101 | 85.8 | 1.18 | 0.00000595 | 655 |
Loss of Function | -0.407 | 13 | 11.5 | 1.13 | 5.73e-7 | 140 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0964 | 0.0950 |
Ashkenazi Jewish | 0.0000995 | 0.0000992 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.000277 | 0.000277 |
European (Non-Finnish) | 0.000553 | 0.000536 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.000880 | 0.000850 |
Other | 0.00519 | 0.00473 |
dbNSFP
Source:
- Function
- FUNCTION: UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation. As a result, energy is dissipated in the form of heat. May play a role in the modulation of tissue respiratory control. Participates in thermogenesis and energy balance.;
- Pathway
- Electron Transport Chain;Energy Metabolism;Exercise-induced Circadian Regulation;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;The fatty acid cycling model;The proton buffering model;Mitochondrial Uncoupling Proteins;Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
(Consensus)
Recessive Scores
- pRec
- 0.329
Intolerance Scores
- loftool
- 0.358
- rvis_EVS
- 0.33
- rvis_percentile_EVS
- 73.61
Haploinsufficiency Scores
- pHI
- 0.0893
- hipred
- N
- hipred_score
- 0.219
- ghis
- 0.543
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.979
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ucp3
- Phenotype
- cellular phenotype; homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan);
Gene ontology
- Biological process
- response to superoxide;response to hypoxia;lipid metabolic process;fatty acid metabolic process;aging;response to nutrient;respiratory gaseous exchange;response to cold;response to activity;response to insulin;cellular response to hormone stimulus;response to glucocorticoid;proton transmembrane transport;mitochondrial transmembrane transport;adaptive thermogenesis
- Cellular component
- mitochondrion;mitochondrial inner membrane;integral component of membrane
- Molecular function
- transporter activity;protein binding;oxidative phosphorylation uncoupler activity