UQCRC2 (ubiquinol-cytochrome c reductase core protein 2)

2014-08-01 Affiliation

Identity

HGNC

UQCRC2

LOCATION

16p12.2

LOCUSID

7385

ALIAS

MC3DN5,QCR2,UQCR2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 7385
MIM: 191329
HGNC: 12586
Ensembl: ENSG00000140740

Variants:

dbSNP: 7385
ClinVar: 7385
TCGA: ENSG00000140740
COSMIC: UQCRC2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000140740	ENST00000268379	P22695
ENSG00000140740	ENST00000561553	H3BRG4
ENSG00000140740	ENST00000563898	H3BSJ9
ENSG00000140740	ENST00000564095	H3BUE4
ENSG00000140740	ENST00000565331	H3BP04
ENSG00000140740	ENST00000565464	H3BUI9
ENSG00000140740	ENST00000618892	A0A087WVZ4
ENSG00000140740	ENST00000630839	H3BUI9

Expression (GTEx)

100

150

200

250

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Oxidative phosphorylation	KEGG	ko00190
Alzheimer's disease	KEGG	ko05010
Huntington's disease	KEGG	ko05016
Oxidative phosphorylation	KEGG	hsa00190
Alzheimer's disease	KEGG	hsa05010
Parkinson's disease	KEGG	hsa05012
Huntington's disease	KEGG	hsa05016
Cardiac muscle contraction	KEGG	hsa04260
Cardiac muscle contraction	KEGG	ko04260
Metabolic pathways	KEGG	hsa01100
Cytochrome bc1 complex	KEGG	hsa_M00152
Cytochrome bc1 complex	KEGG	M00152
Non-alcoholic fatty liver disease (NAFLD)	KEGG	hsa04932
Non-alcoholic fatty liver disease (NAFLD)	KEGG	ko04932
Metabolism	REACTOME	R-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transport	REACTOME	R-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	REACTOME	R-HSA-163200
Respiratory electron transport	REACTOME	R-HSA-611105

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
23281071	2013	Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.	23
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
20677014	2010	An approach based on a genome-wide association study reveals candidate loci for narcolepsy.	16
30078018	2018	A Novel Tumor-Suppressor, CDH18, Inhibits Glioma Cell Invasiveness Via UQCRC2 and Correlates with the Prognosis of Glioma Patients.	4
30115536	2018	Overexpression of UQCRC2 is correlated with tumor progression and poor prognosis in colorectal cancer.	3
30674441	2019	Ubiquinol-cytochrome C reductase core protein II promotes tumorigenesis by facilitating p53 degradation.	3

Citation

Dessen P

UQCRC2 (ubiquinol-cytochrome c reductase core protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54758/uqcrc2