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

2014-11-01  

Identity

HGNC
LOCATION
6p21.31
LOCUSID
ALIAS
C6orf125,C6orf126,Cbp6,M19,MC3DN7,MNF1,bA6B20.2

Other Information

Locus ID:

NCBI: 84300
MIM: 614461
HGNC: 21237
Ensembl: ENSG00000137288

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137288ENST00000374214Q5TAQ0
ENSG00000137288ENST00000374231V5IRT4
ENSG00000137288ENST00000607484Q9BRT2

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
222779672012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.141
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
243859282013Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.26
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
250081092014A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.17
196438112009Association of a novel mitochondrial protein M19 with mitochondrial nucleoids.7
223637412012M19 modulates skeletal muscle differentiation and insulin secretion in pancreatic β-cells through modulation of respiratory chain activity.5

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