• Gene id: 84300

Gene Summary

• Gene Symbol: UQCC2   Gene   UCSC   Ensembl
• Aliases: C6orf125, C6orf126, Cbp6, M19, MC3DN7, MNF1, bA6B20.2
• Gene name: ubiquinol-cytochrome c reductase complex assembly factor 2
• Alternate names: ubiquinol-cytochrome-c reductase complex assembly factor 2, breast cancer-associated protein SGA-81M, cytochrome B protein synthesis 6 homolog, mitochondrial nucleoid factor 1, mitochondrial protein M19,
• Gene location: 6p21.31 (33711699: 33696763)     Exons: 4     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 613212

Protein Summary

• Protein general information: Q9BRT2  
  • Name: Ubiquinol cytochrome c reductase complex assembly factor 2 (Breast cancer associated protein SGA 81M) (Mitochondrial nucleoid factor 1) (Mitochondrial protein M19)
  • Length: 126  
  • Mass: 14875
  • Tissue specificity: Pancreas, skeletal muscle, kidney, liver and heart. {ECO
• Sequence:

  MAASRYRRFLKLCEEWPVDETKRGRDLGAYLRQRVAQAFREGENTQVAEPEACDQMYESLARLHSNYYKHKYPRP
  RDTSFSGLSLEEYKLILSTDTLEELKEIDKGMWKKLQEKFAPKGPEEDHKA

• Structural information:
  • Interpro: IPR037698  
  • STRING: ENSP00000476140
• Other Databases: GeneCards:  UQCC2  Malacards:  UQCC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034551	mitochondrial respiratory chain complex III assembly	IDA	biological process
GO:0070131	positive regulation of mitochondrial translation	IDA	biological process
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:1903364	positive regulation of cellular protein catabolic process	IMP	biological process
GO:2001014	regulation of skeletal muscle cell differentiation	ISS	biological process
GO:0002082	regulation of oxidative phosphorylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050796	regulation of insulin secretion	ISS	biological process
GO:0005759	mitochondrial matrix	ISS	cellular component
GO:0005758	mitochondrial intermembrane space	ISS	cellular component
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0034551	mitochondrial respiratory chain complex III assembly	IEA	biological process
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050796	regulation of insulin secretion	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:2001014	regulation of skeletal muscle cell differentiation	IEA	biological process
GO:0002082	regulation of oxidative phosphorylation	IEA	biological process
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0034551	mitochondrial respiratory chain complex III assembly	IDA	biological process
GO:0070131	positive regulation of mitochondrial translation	IDA	biological process
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:1903364	positive regulation of cellular protein catabolic process	IMP	biological process
GO:2001014	regulation of skeletal muscle cell differentiation	ISS	biological process
GO:0002082	regulation of oxidative phosphorylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050796	regulation of insulin secretion	ISS	biological process
GO:0005759	mitochondrial matrix	ISS	cellular component
GO:0005758	mitochondrial intermembrane space	ISS	cellular component
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0034551	mitochondrial respiratory chain complex III assembly	IEA	biological process
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050796	regulation of insulin secretion	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:2001014	regulation of skeletal muscle cell differentiation	IEA	biological process
GO:0002082	regulation of oxidative phosphorylation	IEA	biological process
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component

Diseases

Associated diseases	References
Mitochondrial complex III deficiency	KEGG:H02086
Mitochondrial complex III deficiency	KEGG:H02086
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray