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

Homo sapiens

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

Gene ID: 84300 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24385928	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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