• Gene id: 7385

Gene Summary

• Gene Symbol: UQCRC2   Gene   UCSC   Ensembl
• Aliases: MC3DN5, QCR2, UQCR2
• Gene name: ubiquinol-cytochrome c reductase core protein 2
• Alternate names: cytochrome b-c1 complex subunit 2, mitochondrial, complex III subunit 2, cytochrome bc-1 complex core protein II, ubiquinol-cytochrome c reductase core protein II, ubiquinol-cytochrome-c reductase complex core protein 2,
• Gene location: 16p12.2 (21953360: 21983659)     Exons: 14     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene ar
• OMIM: 191329

Protein Summary

• Protein general information: P22695  
  • Name: Cytochrome b c1 complex subunit 2, mitochondrial (Complex III subunit 2) (Core protein II) (Ubiquinol cytochrome c reductase complex core protein 2)
  • Length: 453  
  • Mass: 48443
• Sequence:

  MKLLTRAGSFSRFYSLKVAPKVKATAAPAGAPPQPQDLEFTKLPNGLVIASLENYSPVSRIGLFIKAGSRYEDFS
  NLGTTHLLRLTSSLTTKGASSFKITRGIEAVGGKLSVTATRENMAYTVECLRGDVDILMEFLLNVTTAPEFRRWE
  VADLQPQLKIDKAVAFQNPQTHVIENLHAAAYRNALANPLYCPDYRIGKVTSEELHYFVQNHFTSARMALIGLGV
  SHPVLKQVAEQFLNMRGGLGLSGAKANYRGGEIREQNGDSLVHAAFVAESAVAGSAEANAFSVLQHVLGAGPHVK
  RGSNTTSHLHQAVAKATQQPFDVSAFNASYSDSGLFGIYTISQATAAGDVIKAAYNQVKTIAQGNLSNTDVQAAK
  NKLKAGYLMSVESSECFLEEVGSQALVAGSYMPPSTVLQQIDSVANADIINAAKKFVSGQKSMAASGNLGHTPFV
  DEL

• Structural information:
  • Interpro: IPR011249  IPR011765  IPR001431  IPR007863  
  • Prosite: PS00143
  • PDB: 5XTE 5XTH 5XTI
  • PDBsum: 5XTE 5XTH 5XTI
  • STRING: ENSP00000268379
• Other Databases: GeneCards:  UQCRC2  Malacards:  UQCRC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0004175	endopeptidase activity	IBA	contributes to
GO:0006627	protein processing involved in protein targeting to mitochondrion	IBA	biological process
GO:0017087	mitochondrial processing peptidase complex	IBA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0070469	respirasome	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006119	oxidative phosphorylation	TAS	biological process
GO:0009060	aerobic respiration	TAS	biological process
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006122	mitochondrial electron transport, ubiquinol to cytochrome c	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005750	mitochondrial respiratory chain complex III	IEA	cellular component
GO:0005750	mitochondrial respiratory chain complex III	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005751	mitochondrial respiratory chain complex IV	IDA	cellular component
GO:0005750	mitochondrial respiratory chain complex III	IDA	cellular component
GO:0005750	mitochondrial respiratory chain complex III	IDA	cellular component
GO:0005739	mitochondrion	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa00190	Oxidative phosphorylation
hsa04932	Non-alcoholic fatty liver disease
hsa04260	Cardiac muscle contraction

Diseases

Associated diseases	References
Mitochondrial complex III deficiency	KEGG:H02086
Mitochondrial complex III deficiency	KEGG:H02086
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881