Gene Gene information from NCBI Gene database.
Entrez ID 7381
Gene name Ubiquinol-cytochrome c reductase binding protein
Gene symbol UQCRB
Synonyms (NCBI Gene)
MC3DN3QCR7QP-CQPCUQBCUQBPUQCR6UQPC
Chromosome 8
Chromosome location 8q22.1
Summary This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs139283183 A>T Conflicting-interpretations-of-pathogenicity Non coding transcript variant, missense variant, coding sequence variant
rs863224257 T>A Likely-pathogenic 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs863224258 C>A,T Likely-pathogenic Non coding transcript variant, stop gained, 3 prime UTR variant, missense variant, coding sequence variant
rs863224259 C>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs886043294 TTTT>- Pathogenic 3 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
380
miRTarBase ID miRNA Experiments Reference
MIRT042467 hsa-miR-423-3p CLASH 23622248
MIRT640375 hsa-miR-130b-5p HITS-CLIP 23824327
MIRT640374 hsa-miR-942-5p HITS-CLIP 23824327
MIRT640373 hsa-miR-3124-3p HITS-CLIP 23824327
MIRT640372 hsa-miR-627-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 25416956, 28514442, 32296183, 32814053, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 28844695
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191330 12582 ENSG00000156467
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14927
Protein name Cytochrome b-c1 complex subunit 7 (Complex III subunit 7) (Complex III subunit VII) (QP-C) (Ubiquinol-cytochrome c reductase complex 14 kDa protein)
Protein function Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complex
PDB 5XTE , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02271 UCR_14kD 8 106 Ubiquinol-cytochrome C reductase complex 14kD subunit Family
Sequence
Sequence length 111
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
  Respiratory electron transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY CTD, ClinVar, Disgenet
CTD, ClinVar, Disgenet
CTD, ClinVar, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Mitochondrial complex III deficiency nuclear type 3 Benign; Conflicting classifications of pathogenicity; Likely benign ClinVar
ClinVar, GenCC
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 36405716 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30120311 Associate
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 22545919 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29147009
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 22545919, 29147009, 32071343 Associate
★☆☆☆☆
Found in Text Mining only
Complete atrioventricular block Complete Atrioventricular Block BEFREE 27497639
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 28697555
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 37091853 Associate
★☆☆☆☆
Found in Text Mining only
Hypoglycemia Hypoglycemia BEFREE 12709789
★☆☆☆☆
Found in Text Mining only
Hypoglycemia Hypoglycemia HPO_DG
★☆☆☆☆
Found in Text Mining only