Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602044 12519 ENSG00000175564
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 312
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    The fatty acid cycling model
The proton buffering model
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 14500553
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia LHGDN 15564896
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 10089012, 15564896
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia LHGDN 11920154
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 31744213
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 28536923
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 28536923
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23257779 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 26304588 Associate
★☆☆☆☆
Found in Text Mining only
Chondrosarcoma Chondrosarcoma BEFREE 29398371
★☆☆☆☆
Found in Text Mining only