UQCC2

Protein identityUniProt · HPA

UniProt accession

Q9BRT2

Gene

UQCC2

Ensembl

ENSG00000137288

Chromosome

6

Canonical length

126 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nuclear bodies,Mitochondria

OverviewNCBI Gene

This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012]

Canonical amino-acid sequenceUniProt

126 residues, UniProt reviewed canonical sequence.

>Q9BRT2|UQCC2
     1  MAASRYRRFL KLCEEWPVDE TKRGRDLGAY LRQRVAQAFR EGENTQVAEP EACDQMYESL
    61  ARLHSNYYKH KYPRPRDTSF SGLSLEEYKL ILSTDTLEEL KEIDKGMWKK LQEKFAPKGP
   121  EEDHKA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UQCC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.45

Highest tissue expression

254 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UQCC2.

Disease | AllUniProt

Conditions UQCC2 is implicated in, by any mechanism.

• Mitochondrial complex III deficiency, nuclear type 7 (MC3DN7) MIM:615824

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 85 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex III deficiency nuclear type 7

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.04

gnomAD pLI

0.02

gnomAD missense Z

0.5

DepMap mean gene effect

-0.3

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial respiratory chain complex III assembly
• positive regulation of mitochondrial translation
• regulation of insulin secretion
• regulation of oxidative phosphorylation
• regulation of skeletal muscle cell differentiation

Cellular components

• mitochondrial inner membrane
• mitochondrial intermembrane space
• mitochondrial matrix
• mitochondrial nucleoid
• mitochondrion
• nuclear body

Protein domainsUniProt · Pfam · InterPro

• Ubiquinol-cytochrome-c reductase complex assembly factor 2
• Complex III assembly factor UQCC2/CBP6

KeywordsUniProt

• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Mitochondrion nucleoid
• Primary mitochondrial disease
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of UQCC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• UQCC1
• CDR2