UQCC2 (ubiquinol-cytochrome c reductase complex assembly factor 2)

2014-11-01 Affiliation

Identity

HGNC

UQCC2

LOCATION

6p21.31

LOCUSID

84300

ALIAS

C6orf125,C6orf126,Cbp6,M19,MC3DN7,MNF1,bA6B20.2

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: 84300
MIM: 614461
HGNC: 21237
Ensembl: ENSG00000137288

Variants:

dbSNP: 84300
ClinVar: 84300
TCGA: ENSG00000137288
COSMIC: UQCC2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000137288	ENST00000374214	Q5TAQ0
ENSG00000137288	ENST00000374231	V5IRT4
ENSG00000137288	ENST00000607484	Q9BRT2

Expression (GTEx)

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
25008109	2014	A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.	34
25008109	2014	A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.	34
24385928	2013	Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.	49
24385928	2013	Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.	49
22277967	2012	Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.	201
22363741	2012	M19 modulates skeletal muscle differentiation and insulin secretion in pancreatic β-cells through modulation of respiratory chain activity.	7
22277967	2012	Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.	201
22363741	2012	M19 modulates skeletal muscle differentiation and insulin secretion in pancreatic β-cells through modulation of respiratory chain activity.	7
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
19643811	2009	Association of a novel mitochondrial protein M19 with mitochondrial nucleoids.	10
19851445	2009	High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.	58
19643811	2009	Association of a novel mitochondrial protein M19 with mitochondrial nucleoids.	10
19851445	2009	High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.	58

Citation

Dessen P

UQCC2 (ubiquinol-cytochrome c reductase complex assembly factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75501/uqcc2-(ubiquinol-cytochrome-c-reductase-complex-assembly-factor-2)