UQCRC2 - ubiquinol-cytochrome c reductase core protein 2 Gene

Also Known as QCR2; UQCR2; MC3DN5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7385

About UQCRC2

Cytogenetic location: 16p12.2 Genomic coordinates (GRCh38): 16:21,953,361-21,983,660 (from NCBI)

This gene has 13 transcripts (splice variants), 241 orthologues, 6 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 179.2), duodenum (RPKM 111.5) and 25 other tissues.

Summary

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 are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]

UQCRC2 Products (1)

mRNA	Protein	Name
NM_003366.4	NP_003357.2	cytochrome b-c1 complex subunit 2, mitochondrial precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21078624	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	28844695	GOA
part of respiratory chain complex III	IDA IDA: Inferred from direct assay	23168492	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

UQCRC2 Protein Structure

Peptidase_M16

Peptidase_M16_C

0
100
200
300
400
453 a.a.

Protein Preferred Names	Protein Names
cytochrome b-c1 complex subunit 2, mitochondrial	complex III subunit 2

UQCRC2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	UQCRC2	P22695	LHX5	Homo sapiens	Q9H2C1	Y2H Pooling	32814053
Intra	UQCRC2	P22695	LHX5	Homo sapiens	Q9H2C1	Validated Y2H	32814053
Intra	UQCRC2	P22695	LHX5	Homo sapiens	Q9H2C1	Y2H Array	32814053
Intra	UQCRC2	P22695	SNW1	Homo sapiens	Q13573	Validated Y2H	32814053
Intra	UQCRC2	P22695	SNW1	Homo sapiens	Q13573	Y2H Array	32814053
Intra	UQCRC2	P22695	SNW1	Homo sapiens	Q13573	Y2H Pooling	32814053
Intra	UQCRC2	P22695	ACAP1	Homo sapiens	Q15027	Y2H Array	32814053
Intra	UQCRC2	P22695	ACAP1	Homo sapiens	Q15027	Y2H Pooling	32814053
Intra	UQCRC2	P22695	ACAP1	Homo sapiens	Q15027	Validated Y2H	32814053
Intra	UQCRC2	P22695	CACNA1A	Homo sapiens	O00555	Y2H	21078624

Cross: Cross-species interaction Intra: Intraspecies interaction

UQCRC2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82184	UQCRC2 Antibody (YA1929)	WB, IHC-P, ICC/IF, IP, FC	Human, Mouse, Rat
HY-P82184A	UQCRC2 Antibody (YA1929)(PBS only)	WB, IHC-P, ICC/IF, IP, FC	Human, Mouse, Rat
HY-P86597	UQCRC2 Antibody (YA6289)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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
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 Iii Deficiency	Complex 3 Mitochondrial Respiratory Chain Deficiency Isolated Coq-Cytochrome C Reductase Deficiency Ubiquinone-Cytochrome C Oxidoreductase Deficiency
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
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 Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-134539	IMT1	Inhibitor	99.86%	Unkown
HY-RS15500	UQCRC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18880	Uqcrc2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25371	Uqcrc2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	UQCRC2	VGNC	VGNC:36696
Felis catus	UQCRC2	VGNC	VGNC:66849
Rattus norvegicus	UQCRC2	RGD	RGD:1359150
Canis familiaris	UQCRC2	VGNC	VGNC:48164
Mus musculus	UQCRC2	MGD	MGI:1914253
Others	UQCRC2	NCBI