UQCRC2

Protein identityUniProt · HPA

UniProt accession

P22695

Gene

UQCRC2

Ensembl

ENSG00000140740

Chromosome

16

Canonical length

453 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]

Canonical amino-acid sequenceUniProt

453 residues, UniProt reviewed canonical sequence.

>P22695|UQCRC2
     1  MKLLTRAGSF SRFYSLKVAP KVKATAAPAG APPQPQDLEF TKLPNGLVIA SLENYSPVSR
    61  IGLFIKAGSR YEDFSNLGTT HLLRLTSSLT TKGASSFKIT RGIEAVGGKL SVTATRENMA
   121  YTVECLRGDV DILMEFLLNV TTAPEFRRWE VADLQPQLKI DKAVAFQNPQ THVIENLHAA
   181  AYRNALANPL YCPDYRIGKV TSEELHYFVQ NHFTSARMAL IGLGVSHPVL KQVAEQFLNM
   241  RGGLGLSGAK ANYRGGEIRE QNGDSLVHAA FVAESAVAGS AEANAFSVLQ HVLGAGPHVK
   301  RGSNTTSHLH QAVAKATQQP FDVSAFNASY SDSGLFGIYT ISQATAAGDV IKAAYNQVKT
   361  IAQGNLSNTD VQAAKNKLKA GYLMSVESSE CFLEEVGSQA LVAGSYMPPS TVLQQIDSVA
   421  NADIINAAKK FVSGQKSMAA SGNLGHTPFV DEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UQCRC2 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)

0.27

Highest tissue expression

871 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UQCRC2.

Disease | AllUniProt

Conditions UQCRC2 is implicated in, by any mechanism.

• Mitochondrial complex III deficiency, nuclear type 5 (MC3DN5) MIM:615160

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 206 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex III deficiency nuclear type 5
• Mitochondrial disease

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)

0.83

gnomAD pLI

0

gnomAD missense Z

0.95

DepMap mean gene effect

-0.49

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

• aerobic respiration
• cellular respiration
• mitochondrial electron transport, ubiquinol to cytochrome c
• oxidative phosphorylation
• proteolysis

Molecular functions

• metal ion binding
• metalloendopeptidase activity

Cellular components

• mitochondrial inner membrane
• mitochondrion
• nucleoplasm
• respiratory chain complex III

Protein domainsUniProt · Pfam · InterPro

• Peptidase M16, zinc-binding site
• Peptidase M16, C-terminal
• Metalloenzyme, LuxS/M16 peptidase-like
• Peptidase M16, N-terminal
• Mitochondrial Processing Peptidase/Ubiquinol-cytochrome c Reductase Complex
• Insulinase (Peptidase family M16)
• Peptidase M16 inactive domain

KeywordsUniProt

• Acetylation
• Electron transport
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Respiratory chain
• Transit peptide
• Transport

InteractionsUniProt · HPA

Protein binding partners of UQCRC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RAB5IF
• STMP1
• RTN4IP1
• PTGES2
• UQCRC1