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UQCRC2 ubiquinol-cytochrome c reductase core protein 2 [ Homo sapiens (human) ]

Gene ID: 7385, updated on 28-Oct-2024

Summary

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Official Symbol
UQCRC2provided by HGNC
Official Full Name
ubiquinol-cytochrome c reductase core protein 2provided by HGNC
Primary source
HGNC:HGNC:12586
See related
Ensembl:ENSG00000140740 MIM:191329; AllianceGenome:HGNC:12586
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
QCR2; UQCR2; MC3DN5
Summary
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]
Expression
Ubiquitous expression in heart (RPKM 179.2), duodenum (RPKM 111.5) and 25 other tissues See more
Orthologs
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Genomic context

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See UQCRC2 in Genome Data Viewer
Location:
16p12.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (21953361..21983660)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (22233531..22263842, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (21964682..21994981)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene SMG1 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21945923-21946424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21946425-21946924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10562 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:21964563-21965280 Neighboring gene ABCA3 pseudogene 1 Neighboring gene PDZ domain containing 9 Neighboring gene cell division cycle associated 8 pseudogene Neighboring gene islet cell autoantigen 1, 69kDa pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7258 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:22037440-22038639 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7259 Neighboring gene modulator of smoothened Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10566 Neighboring gene uncharacterized LOC124903665 Neighboring gene Sharpr-MPRA regulatory region 14412

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Miyake N, et al. Hum Mutat, 2013 Mar. PMID 23281071
  2. Identification of Target Genes Involved in the Antiproliferative Effect of Enzyme-Modified Ginseng Extract in HepG2 Hepatocarcinoma Cell. Jang SI, et al. Evid Based Complement Alternat Med, 2013. PMID 24174975, Free PMC Article
  3. Complementary DNA encoding core protein II of human mitochondrial cytochrome bc1 complex. Substantial diversity in deduced primary structure from its yeast counterpart. Hosokawa Y, et al. J Biol Chem, 1989 Aug 15. PMID 2547763
  4. Assignment of the gene for the core protein II (UQCRC2) subunit of the mitochondrial cytochrome bc1 complex to human chromosome 16p12. Duncan AM, et al. Genomics, 1993 Nov. PMID 8288258
  5. Overexpression of UQCRC2 is correlated with tumor progression and poor prognosis in colorectal cancer. Shang Y, et al. Pathol Res Pract, 2018 Oct. PMID 30115536

See all (178) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
    Title: UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
  2. AMPK protects against alcohol-induced liver injury through UQCRC2 to up-regulate mitophagy.
    Title: AMPK protects against alcohol-induced liver injury through UQCRC2 to up-regulate mitophagy.
  3. Circular RNA hsa_circ_0000751 serves as a microRNA-488 sponge to suppress gastric cancer progression via ubiquinol-cytochrome c reductase core protein 2 regulation.
    Title: Circular RNA hsa_circ_0000751 serves as a microRNA-488 sponge to suppress gastric cancer progression via ubiquinol-cytochrome c reductase core protein 2 regulation.
  4. Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control.
    Title: Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control.
  5. our study as presented here identify the mitochondrial protein QCR2 as a novel suppressor of p53 to negatively regulate its stability and activity, and this suppression can be potentially reversed by another mitochondrial protein PHB.
    Title: Ubiquinol-cytochrome C reductase core protein II promotes tumorigenesis by facilitating p53 degradation.
  6. These results provided novel insights into the potential role of UQCRC2 in the tumorigenesis and progression of colorectal cancer
    Title: Overexpression of UQCRC2 is correlated with tumor progression and poor prognosis in colorectal cancer.
  7. Down-regulation of UQCRC2 partly reversed the inhibition of invasion/migration ability and chemoresistance in CDH18 overexpressed glioma cell lines.
    Title: A Novel Tumor-Suppressor, CDH18, Inhibits Glioma Cell Invasiveness Via UQCRC2 and Correlates with the Prognosis of Glioma Patients.
  8. These data indicate that a homozygous missense mutation in UQCRC2 causes moderately impaired CIII function and severely decreased amounts of CIII and supercomplex, which would be the primary molecular pathogenesis in the patients.
    Title: Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Mitochondrial complex III deficiency nuclear type 5
MedGen: C3554608 OMIM: 615160 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in aerobic respiration TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular respiration NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mitochondrial electron transport, ubiquinol to cytochrome c NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in oxidative phosphorylation TAS
Traceable Author Statement
more info
 PubMed 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion HDA PubMed 
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
part_of respiratory chain complex III IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
cytochrome b-c1 complex subunit 2, mitochondrial
Names
complex III subunit 2
cytochrome bc-1 complex core protein II
ubiquinol-cytochrome c reductase core protein II
ubiquinol-cytochrome-c reductase complex core protein 2
NP_003357.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042228.1 RefSeqGene

    Range
    5298..35597
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003366.4 → NP_003357.2  cytochrome b-c1 complex subunit 2, mitochondrial precursor

    See identical proteins and their annotated locations for NP_003357.2

    Status: REVIEWED

    Source sequence(s)
    AK094006, BQ181225
    Consensus CDS
    CCDS10601.1
    UniProtKB/Swiss-Prot
    B3KSN4, P22695, Q9BQ05
    UniProtKB/TrEMBL
    H3BRG4
    Related
    ENSP00000268379.4, ENST00000268379.9
    Conserved Domains (1) summary
    COG0612
    Location:37 → 436
    PqqL; Predicted Zn-dependent peptidase [General function prediction only]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    21953361..21983660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_017852933.1 Reference GRCh38.p14 PATCHES

    Range
    1121378..1151678 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    22233531..22263842 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P22695.3 GenPept UniProtKB/Swiss-Prot:P22695

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