UQCC2 (ubiquinol-cytochrome c reductase complex assembly factor 2)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 84300
Gene name Ubiquinol-cytochrome c reductase complex assembly factor 2
Gene symbol UQCC2
Synonyms (NCBI Gene)
C6orf125C6orf126Cbp6M19MC3DN7MNF1bA6B20.2
Chromosome 6
Chromosome location 6p21.31
Summary This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [p
SNPs SNP information provided by dbSNP.
3
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs587777410 G>A,C,T Pathogenic Intron variant
rs1373387327 C>G,T Pathogenic Coding sequence variant, missense variant
rs1582186030 G>A Pathogenic Missense variant, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (24)
GO ID Ontology Definition Evidence Reference
GO:0002082 Process Regulation of oxidative phosphorylation IEA
GO:0002082 Process Regulation of oxidative phosphorylation IMP 22363741
GO:0005515 Function Protein binding IPI 24385928, 32296183, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 22363741
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614461 21237 ENSG00000137288
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BRT2
Protein name Ubiquinol-cytochrome c reductase complex assembly factor 2 (Breast cancer-associated protein SGA-81M) (Mitochondrial nucleoid factor 1) (Mitochondrial protein M19)
Protein function Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP
Family and domains
Tissue specificity TISSUE SPECIFICITY: Pancreas, skeletal muscle, kidney, liver and heart. {ECO:0000269|PubMed:22363741}.
Sequence 
MAASRYRRFLKLCEEWPVDETKRGRDLGAYLRQRVAQAFREGENTQVAEPEACDQMYESL
ARLHSNYYKHKYPRPRDTSFSGLSLEEYKLILSTDTLEELKEIDKGMWKKLQEKFAPKGP
EEDHKA
Sequence length 126
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial complex III deficiency nuclear type 7 Pathogenic rs587777410, rs368187806 RCV000119808
RCV003223366
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs1373387327 -
UQCC2-related disorder Uncertain significance rs749233483 RCV003971807
Show/Hide Text Mining Associations (6)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Lactic Associate 24385928
Attention Deficit Disorder with Hyperactivity Associate 35052433
Fanconi Syndrome Associate 24385928
Fetal Growth Retardation Associate 24385928
Immunologic Deficiency Syndromes Associate 24385928
Mitochondrial Complex III Deficiency Associate 24385928