Identity
HGNC
LOCATION
6p21.31
LOCUSID
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)
Protein levels (Protein atlas)
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)
