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Aliases for UQCRC2 Gene

Aliases for UQCRC2 Gene

  • Ubiquinol-Cytochrome C Reductase Core Protein 2 2 3 5
  • Ubiquinol-Cytochrome-C Reductase Complex Core Protein 2 3 4
  • Ubiquinol-Cytochrome C Reductase Core Protein II 2 3
  • Complex III Subunit 2 3 4
  • Cytochrome B-C1 Complex Subunit 2, Mitochondrial 3
  • Cytochrome Bc-1 Complex Core Protein II 3
  • Core Protein II 4
  • MC3DN5 3
  • UQCR2 3
  • QCR2 3

External Ids for UQCRC2 Gene

Previous GeneCards Identifiers for UQCRC2 Gene

  • GC16P021372
  • GC16P021972
  • GC16P021930
  • GC16P021931
  • GC16P021872
  • GC16P020209

Summaries for UQCRC2 Gene

Entrez Gene Summary for UQCRC2 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]

GeneCards Summary for UQCRC2 Gene

UQCRC2 (Ubiquinol-Cytochrome C Reductase Core Protein 2) is a Protein Coding gene. Diseases associated with UQCRC2 include Mitochondrial Complex V Deficiency, Nuclear Type 3 and Isolated Complex Iii Deficiency. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is PMPCA.

UniProtKB/Swiss-Prot for UQCRC2 Gene

  • This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. The core protein 2 is required for the assembly of the complex.

Gene Wiki entry for UQCRC2 Gene

Additional gene information for UQCRC2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UQCRC2 Gene

Genomics for UQCRC2 Gene

GeneHancer (GH) Regulatory Elements for UQCRC2 Gene

Promoters and enhancers for UQCRC2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J021950 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.0 45 3.9 CLOCK DMAP1 YBX1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC MEF2D GC16M021951 UQCRC2 ENSG00000274460 NPIPB4 NPIPB5 ENSG00000260635 NPIPB3 SMG1P1 SMG1P4 SMG1P3
GH16J022187 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +238.2 238210 6.5 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 GLIS1 GC16P022190 POLR3E PDZD9 ENSG00000260306 UQCRC2 NPIPB5 ENSG00000260973 NPIPB3 MFSD13B NPIPB4
GH16J022070 Enhancer 0.6 FANTOM5 ENCODE 10.7 +118.6 118613 2.4 POLR2A PRDM1 PDZD9 VWA3A SDR42E2 UQCRC2 ENSG00000260905 OTOA GC16P022079 GC16P022057 MOSMO
GH16J022075 Enhancer 0.4 ENCODE 10.7 +122.5 122535 0.2 ZNF664 PRDM6 ZNF600 PDZD9 SDR42E2 UQCRC2 GC16P022079 GC16P022057 MOSMO
GH16J022073 Enhancer 0.3 ENCODE 10.7 +120.8 120835 0.2 PRDM6 PDZD9 SDR42E2 UQCRC2 GC16P022079 GC16P022057 MOSMO
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UQCRC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UQCRC2 gene promoter:
  • FOXO4
  • NF-1
  • Pax-4a
  • AP-1
  • CHOP-10
  • C/EBPalpha
  • Hlf
  • AML1a
  • p53
  • FOXL1

Genomic Locations for UQCRC2 Gene

Genomic Locations for UQCRC2 Gene
31,001 bases
Plus strand
31,001 bases
Plus strand

Genomic View for UQCRC2 Gene

Genes around UQCRC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UQCRC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UQCRC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UQCRC2 Gene

Proteins for UQCRC2 Gene

  • Protein details for UQCRC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cytochrome b-c1 complex subunit 2, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B3KSN4
    • Q9BQ05

    Protein attributes for UQCRC2 Gene

    453 amino acids
    Molecular mass:
    48443 Da
    Quaternary structure:
    • The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).

    Three dimensional structures from OCA and Proteopedia for UQCRC2 Gene

neXtProt entry for UQCRC2 Gene

Post-translational modifications for UQCRC2 Gene

  • Ubiquitination at isoforms=250, posLast=199199, and posLast=162162
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for UQCRC2

No data available for DME Specific Peptides for UQCRC2 Gene

Domains & Families for UQCRC2 Gene

Gene Families for UQCRC2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for UQCRC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase M16 family. UQCRC2/QCR2 subfamily.
  • Belongs to the peptidase M16 family. UQCRC2/QCR2 subfamily.
genes like me logo Genes that share domains with UQCRC2: view

Function for UQCRC2 Gene

Molecular function for UQCRC2 Gene

UniProtKB/Swiss-Prot Function:
This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. The core protein 2 is required for the assembly of the complex.
GENATLAS Biochemistry:
ubiquinol cytochrome c reductase,core protein 2,component of complex III of mitochondrial respiratory chain,oxidative phosphorylation (OXPHOS)

Phenotypes From GWAS Catalog for UQCRC2 Gene

Gene Ontology (GO) - Molecular Function for UQCRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA,IBA --
GO:0005515 protein binding IPI 17353931
GO:0008270 zinc ion binding IBA --
GO:0044877 protein-containing complex binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with UQCRC2: view
genes like me logo Genes that share phenotypes with UQCRC2: view

Human Phenotype Ontology for UQCRC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for UQCRC2

miRNA for UQCRC2 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for UQCRC2 Gene

Localization for UQCRC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UQCRC2 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UQCRC2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UQCRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005750 mitochondrial respiratory chain complex III IEA,IDA 23168492
GO:0005751 mitochondrial respiratory chain complex IV IDA 23168492
genes like me logo Genes that share ontologies with UQCRC2: view

Pathways & Interactions for UQCRC2 Gene

genes like me logo Genes that share pathways with UQCRC2: view

Gene Ontology (GO) - Biological Process for UQCRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation TAS 8288258
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c TAS --
GO:0006508 proteolysis IEA --
GO:0006627 protein processing involved in protein targeting to mitochondrion IBA --
GO:0009060 aerobic respiration TAS 8288258
genes like me logo Genes that share ontologies with UQCRC2: view

No data available for SIGNOR curated interactions for UQCRC2 Gene

Drugs & Compounds for UQCRC2 Gene

(9) Drugs for UQCRC2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ubiquinone-2 Experimental Pharma Target 0
(5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE Experimental Pharma Target 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0
2-NONYL-4-HYDROXYQUINOLINE N-OXIDE Experimental Pharma Target 0
5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole Experimental Pharma Target 0

(1) Additional Compounds for UQCRC2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
genes like me logo Genes that share compounds with UQCRC2: view

Transcripts for UQCRC2 Gene

mRNA/cDNA for UQCRC2 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(1141) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for UQCRC2 Gene

Ubiquinol-cytochrome c reductase core protein II:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UQCRC2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16
SP1: - - - - - - -
SP2: - -
SP3: -
SP7: - - - - - - - -

Relevant External Links for UQCRC2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for UQCRC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UQCRC2 Gene

mRNA differential expression in normal tissues according to GTEx for UQCRC2 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.8) and Muscle - Skeletal (x4.1).

Protein differential expression in normal tissues from HIPED for UQCRC2 Gene

This gene is overexpressed in Nasal epithelium (11.3) and Heart (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UQCRC2 Gene

Protein tissue co-expression partners for UQCRC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UQCRC2 Gene:


SOURCE GeneReport for Unigene cluster for UQCRC2 Gene:


Evidence on tissue expression from TISSUES for UQCRC2 Gene

  • Nervous system(5)
  • Lung(4.8)
  • Liver(4.7)
  • Skin(4.5)
  • Heart(4.4)
  • Intestine(4)
  • Eye(3.5)
  • Kidney(3.3)
  • Stomach(3.1)
  • Pancreas(3)
  • Muscle(2.7)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UQCRC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • larynx
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • vocal cord
  • heart
  • heart valve
  • lung
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
  • testicle
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
  • blood
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with UQCRC2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for UQCRC2 Gene

Orthologs for UQCRC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UQCRC2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia UQCRC2 34 33
  • 99.41 (n)
(Bos Taurus)
Mammalia UQCRC2 34 33
  • 89.85 (n)
(Canis familiaris)
Mammalia UQCRC2 34 33
  • 89.77 (n)
(Mus musculus)
Mammalia Uqcrc2 16 34 33
  • 86.02 (n)
(Rattus norvegicus)
Mammalia Uqcrc2 33
  • 85.77 (n)
(Ornithorhynchus anatinus)
Mammalia UQCRC2 34
  • 80 (a)
(Monodelphis domestica)
Mammalia UQCRC2 34
  • 79 (a)
(Gallus gallus)
Aves UQCRC2 34 33
  • 70.51 (n)
(Anolis carolinensis)
Reptilia UQCRC2 34
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia uqcrc2 33
  • 69.33 (n)
Str.5522 33
African clawed frog
(Xenopus laevis)
Amphibia uqcrc2-prov 33
(Danio rerio)
Actinopterygii uqcrc2b 34 33
  • 65.01 (n)
uqcrc2a 34
  • 56 (a)
wufb64g04 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10801 33
fruit fly
(Drosophila melanogaster)
Insecta CG4169 34 35 33
  • 43.61 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006099 33
  • 42.95 (n)
(Caenorhabditis elegans)
Secernentea ucr-2.3 34
  • 27 (a)
ucr-2.2 34
  • 27 (a)
T10B10.2 35
  • 27 (a)
T24C4.1 35
  • 27 (a)
ucr-2.1 34
  • 24 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAS2 34
  • 23 (a)
QCR2 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G51980 33
  • 44.28 (n)
(Oryza sativa)
Liliopsida Os01g0191500 33
  • 44.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3358 34
  • 33 (a)
Species where no ortholog for UQCRC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UQCRC2 Gene

Gene Tree for UQCRC2 (if available)
Gene Tree for UQCRC2 (if available)
Evolutionary constrained regions (ECRs) for UQCRC2: view image

Paralogs for UQCRC2 Gene

Paralogs for UQCRC2 Gene Pseudogenes for UQCRC2 Gene

genes like me logo Genes that share paralogs with UQCRC2: view

Variants for UQCRC2 Gene

Sequence variations from dbSNP and Humsavar for UQCRC2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs374661051 pathogenic, Mitochondrial complex III deficiency, nuclear type 5, Mitochondrial complex III deficiency, nuclear 5 (MC3DN5) [MIM:615160] 21,965,440(+) C/A/G/T coding_sequence_variant, missense_variant, synonymous_variant
VAR_036479 A colorectal cancer sample p.Phe208Tyr
rs745553184 pathogenic, not provided 21,971,611(+) TACCGTGGAGGTA/ coding_sequence_variant, intron_variant, splice_donor_variant
rs778618710 likely-pathogenic, not provided 21,962,488(+) T/C coding_sequence_variant, missense_variant
rs143080682 likely-benign, not specified 21,958,582(+) A/T coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for UQCRC2 Gene

Variant ID Type Subtype PubMed ID
dgv3n1 OTHER inversion 15895083
dgv47n16 OTHER inversion 17901297
esv3368991 OTHER inversion 20981092
esv34235 CNV gain 17911159
esv34544 CNV gain 17911159
esv3638193 CNV gain 21293372
esv998989 OTHER inversion 20482838
nsv1048054 CNV gain 25217958
nsv1077770 OTHER inversion 25765185
nsv1140248 OTHER inversion 24896259
nsv428322 CNV gain 18775914
nsv499139 OTHER inversion 21111241
nsv7280 OTHER inversion 18451855

Variation tolerance for UQCRC2 Gene

Residual Variation Intolerance Score: 50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.84; 73.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UQCRC2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UQCRC2 Gene

Disorders for UQCRC2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UQCRC2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex v deficiency, nuclear type 3
  • mc5dn3
isolated complex iii deficiency
  • isolated coq-cytochrome c reductase deficiency
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
- elite association - COSMIC cancer census association via MalaCards


  • Mitochondrial complex III deficiency, nuclear 5 (MC3DN5) [MIM:615160]: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269 PubMed:23281071}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for UQCRC2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UQCRC2: view

No data available for Genatlas for UQCRC2 Gene

Publications for UQCRC2 Gene

  1. Complementary DNA encoding core protein II of human mitochondrial cytochrome bc1 complex. Substantial diversity in deduced primary structure from its yeast counterpart. (PMID: 2547763) Hosokawa Y … Ozawa T (The Journal of biological chemistry 1989) 2 3 4 58
  2. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. (PMID: 23281071) Miyake N … Matsumoto N (Human mutation 2013) 3 4 58
  3. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 44 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for UQCRC2 Gene

Sources for UQCRC2 Gene

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