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

Summary

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: mouse all
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Genomic context

Location:: 16p12.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (21953361..21983660)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (22233531..22263842, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (21964682..21994981)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
Title: UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
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.
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.
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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-61151 (e-PCR)
- UniSTS:70172

D16S2552E (e-PCR)
- UniSTS:151641

D16S2557E (e-PCR)
- UniSTS:151645

RH65269 (e-PCR)
- UniSTS:84321

SHGC-60700 (e-PCR)
- UniSTS:76726

STS-J04973 (e-PCR)
- UniSTS:5048

SHGC-52911 (e-PCR)
- UniSTS:37070

SHGC-60745 (e-PCR)
- UniSTS:51174

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
part_of mitochondrial respiratory chain complex III	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial respiratory chain complex III	IPI Inferred from Physical Interaction more info	PubMed
part_of mitochondrial respiratory chain complex IV	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	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

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

EC 7.1.1.8

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

NG_042228.1 RefSeqGene

Range

5298..35597

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]