UQCC2 - ubiquinol-cytochrome c reductase complex assembly factor 2 Gene

Also Known as M19; Cbp6; MNF1; MC3DN7; C6orf125; C6orf126; bA6B20.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84300

About UQCC2

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:33,696,764-33,711,700 (from NCBI)

This gene has 4 transcripts (splice variants), 201 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 18.8), testis (RPKM 14.6) and 25 other tissues.

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. [provided by RefSeq, Oct 2012]

UQCC2 Products (1)

mRNA	Protein	Name
NM_032340.4	NP_115716.1	ubiquinol-cytochrome-c reductase complex assembly factor 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24385928	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial respiratory chain complex III assembly	IDA IDA: Inferred from direct assay	24385928	GOA
involved in positive regulation of mitochondrial translation	IDA IDA: Inferred from direct assay	24385928	GOA
involved in regulation of oxidative phosphorylation	IMP IMP: Inferred from mutant phenotype	22363741	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	19643811	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	22363741	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
ubiquinol-cytochrome-c reductase complex assembly factor 2	breast cancer-associated protein SGA-81M

UQCC2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	UQCC2	Q9BRT2	NRDE2	Homo sapiens	Q9H7Z3	Validated Y2H	32296183
Intra	UQCC2	Q9BRT2	GNG13	Homo sapiens	Q9P2W3	Validated Y2H	32296183
Intra	UQCC2	Q9BRT2	UQCC1	Homo sapiens	Q9NVA1	Anti Tag CoIP	33961781
Intra	UQCC2	Q9BRT2	MRFAP1	Homo sapiens	Q9Y605	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Mitochondrial Complex Iii Deficiency Nuclear Type 7 MC3DN7 Mitochondrial Complex Iii Deficiency, Nuclear 7
Isolated Complex Iii Deficiency	Isolated Coq-Cytochrome C Reductase Deficiency Isolated Coenzyme Q-Cytochrome C Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency Isolated Ubiquinone-Cytochrome C Reductase Deficiency
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Leigh Syndrome, French Canadian Type Mitochondrial Complex V Deficiency Nuclear Type 4 Cytochrome C Oxidase Deficiency, French Canadian Type Lsfc Cox Deficiency, French Canadian Type MC5DN4 MC4DN5 Cox Deficiency, Saguenay-Lac-Saint-Jean Type Leigh Syndrome, Saguenay-Lac-Saint-Jean Type Mitochondrial Complex V Deficiency, Nuclear Type 4 French Canadian Leigh Disease Leigh Syndrome, French-Canadian Type Leigh Syndrome , French Canadian Type Mitochondrial Complex V Deficiency, Atp5a1 Type French Canadian Type Cox Deficiency French Canadian Type Cytochrome C Oxidase Deficiency French Canadian Type Leigh Syndrome Saguenay Lac Saint Jean Type Cox Deficiency Saguenay Lac Saint Jean Type Leigh Syndrome Cox Deficiency, Saguenay Lac Saint Jean Type Leigh Syndrome, Saguenay Lac Saint Jean Type Mitochondrial Complex V Deficiency, Nuclear Type 4 Mitochondrial Complex V Deficiency Atp5a1 Type Mitochondrial Complex V Deficiency Type 4 Mitochondrial Complex V Deficiency, Nuclear, Type 4
Mitochondrial Dna Depletion Syndrome 8a	Mitochondrial Dna Depletion Syndrome 8b MTDPS8A Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy Mtdna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, With Renal Tubulopathy, Autosomal Recessive Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related Rrm2b-Related Mitochondrial Dna Depletion Syndrome Encephalomyopathic Type With Renal Tubulopathy Rrm2b-Mds Encephalomyopathic Mitochondrial Depletion Syndrome With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome Encephalomyopathic With Renal Tubulopathy Autosomal Recessive MTDPS8B Mitochondrial Dna Depletion Syndrome 8b Mngie Type Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related Mngie Rrm2b-Related Visceral Myopathy Familial External Ophthalmoplegia Mitochondrial Dna Depletion Syndrome, Type 8a
Mitochondrial Complex Iii Deficiency	Complex 3 Mitochondrial Respiratory Chain Deficiency Isolated Coq-Cytochrome C Reductase Deficiency Ubiquinone-Cytochrome C Oxidoreductase Deficiency
Mitochondrial Dna Depletion Syndrome 14	MTDPS14 Mitochondrial Dna Depletion Syndrome 14, Cardioencephalomyopathic Type Mitochondrial Dna Depletion Syndrome, Type 14
Mitochondrial Dna Depletion Syndrome 11	MTDPS11 Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome Mitochondrial Dna Maintenance Syndrome Due To Mgme1 Deficiency Peo-Myopathy-Emaciation Syndrome Mtdna Maintenance Syndrome Due To Mgme1 Deficiency Mitochondrial Dna Depletion Syndrome, Type 11
Combined Oxidative Phosphorylation Deficiency 22	COXPD22 Oxidative Phosphorylation Deficiency, Combined, Type 22
Mitochondrial Complex V Deficiency, Mitochondrial Type 1	MC5DM1 Mitochondrial Complex V Deficiency Mitochondrial Type 1 Mitochondrial Complex V Deficiency, Mitochondrial 1 Adult-Onset Ataxia And Polyneuropathy Infantile Hypertrophic Cardiomyopathy Mitochondrial Complex 5 Deficiency, Mitochondrial Type 1
Chronic Wasting Disease	Wasting Disease, Chronic
Thoracic Outlet Syndrome	Tos Tos - Thoracic Outlet Syndrome Thoracic Outlet Syndromes Thoracic Outlet Compression Syndrome
Mitochondrial Dna Depletion Syndrome 1	MTDPS1 Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related Myoneurogastrointestinal Encephalopathy Syndrome Polip Syndrome Mitochondrial Dna Depletion Syndrome, Type 1 Mngie, Tymp-Related Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction Mitochondrial Dna Depletion Syndrome 1, Mngie Type Mitochondrial Neurogastrointestinal Encephalomyopathy Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related Myoneurogastrointestinal Encephalomyopathy Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
Gracile Syndrome	Finnish Lethal Neonatal Metabolic Syndrome Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death Flnms Fellman Syndrome Fellman Disease Finnish Lactic Acidosis With Hepatic Hemosiderosis Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Lactic Acidosis, Finnish, With Hepatic Hemosiderosis Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death GRACILE
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Tinea Favosa	Favus
3-Methylglutaconic Aciduria, Type I	3-Methylglutaconyl-Coa Hydratase Deficiency 3-Methylglutaconic Aciduria Type 1 Mga1 MGCA1 3mg-Coa Hydratase Deficiency Mga Type I Mga, Type I 3-Mg-Coa-Hydratase Deficiency 3 Methylglutaconyl Coa Hydratase Deficiency 3-Methylglutaconic Aciduria Type I 3 Alpha Methylglutaconic Aciduria Type I 3 Methylglutaconic Aciduria Type 1 3-Mgca Type I 3mg Coa Hydratase Deficiency Auh Defect Primary 3-Methylglutaconic Aciduria 3-Methylglutaconic Aciduria 1 3-Alpha-Methylglutaconic Aciduria Type 1 3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency 3-@Methylglutaconic Aciduria, Type I Megaloblastic Anemia Due To Inborn Errors Of Metabolism
Spondylolysis	Acquired Spondylolysis
Mitochondrial Complex V Deficiency, Nuclear Type 3	Mitochondrial Complex Iii Deficiency Nuclear Type 5 MC5DN3 Mitochondrial Complex Iii Deficiency, Nuclear Type 5 Mitochondrial Complex V Deficiency Nuclear Type 3 MC3DN5 Mitochondrial Complex V Deficiency, Atp5e Type Mitochondrial Complex Iii Deficiency, Nuclear 5 Mitochondrial Complex V Deficiency, Nuclear Type 3 Mitochondrial Complex V Deficiency Atp5e Type Mitochondrial Complex V Deficiency Type 3 Mitochondrial Complex V Deficiency, Nuclear, Type 3
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15494	UQCC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	UQCC2	RGD	RGD:1306917
Macaca mulatta	UQCC2	VGNC	VGNC:83964
Bos taurus	UQCC2	VGNC	VGNC:107295
Canis familiaris	UQCC2	VGNC	VGNC:48160
Mus musculus	UQCC2	MGD	MGI:1914517
Felis catus	UQCC2	VGNC	VGNC:102544
Others	UQCC2	NCBI