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Aliases for UQCRC2 Gene

Aliases for UQCRC2 Gene

  • Ubiquinol-Cytochrome C Reductase Core Protein II 2 3 5
  • Ubiquinol-Cytochrome-C Reductase Complex Core Protein 2 3 4
  • 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 II) is a Protein Coding gene. Diseases associated with UQCRC2 include Mitochondrial Complex Iii Deficiency, Nuclear Type 5 and Mitochondrial Complex Iii Deficiency. Among its related pathways are Metabolism and Cardiac muscle contraction. GO annotations related to this gene include protein complex binding and 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

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

Genomics for UQCRC2 Gene

Regulatory Elements for UQCRC2 Gene

Enhancers for UQCRC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F022187 1.5 FANTOM5 Ensembl ENCODE 12.1 +239.5 239545 9.2 MLX CREB3L1 ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 MFSD13B SMG1P1 POLR3E NPIPB5 C16orf52 PDZD9 ENSG00000260635 SMG1P4 UQCRC2 ENSG00000260973
GH16F022073 0.7 ENCODE 10.7 +120.8 120835 0.2 PDZD9 SDR42E2 UQCRC2 GC16P022079 GC16P022057
GH16F022075 0.2 ENCODE 10.7 +122.5 122535 0.2 ZNF664 ZMYM3 ZNF600 PDZD9 SDR42E2 UQCRC2 GC16P022079 GC16P022057
GH16F022070 1.4 FANTOM5 Ensembl ENCODE 10.7 +118.6 118613 2.4 SMARCA4 POLR2A PRDM1 PDZD9 VWA3A SDR42E2 UQCRC2 ENSG00000260905 OTOA GC16P022079 GC16P022057
GH16F021950 1.1 ENCODE 0.8 +0.0 46 3.9 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A YBX1 DMAP1 ZNF2 C16orf52 CRYM-AS1 NPIPB4 GC16M021951 UQCRC2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around UQCRC2 on UCSC Golden Path with GeneCards custom track

Promoters for UQCRC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000505233 640 3001 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for UQCRC2 Gene

Chromosome:
16
Start:
21,952,660 bp from pter
End:
21,983,660 bp from pter
Size:
31,001 bases
Orientation:
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:
    P22695-QCR2_HUMAN
    Recommended name:
    Cytochrome b-c1 complex subunit 2, mitochondrial
    Protein Accession:
    P22695
    Secondary Accessions:
    • B3KSN4
    • Q9BQ05

    Protein attributes for UQCRC2 Gene

    Size:
    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).

neXtProt entry for UQCRC2 Gene

Post-translational modifications for UQCRC2 Gene

  • Ubiquitination at Lys 162, Lys 199, and Lys 250
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UQCRC2 Gene

Domains & Families for UQCRC2 Gene

Suggested Antigen Peptide Sequences for UQCRC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22695

UniProtKB/Swiss-Prot:

QCR2_HUMAN :
  • Belongs to the peptidase M16 family. UQCRC2/QCR2 subfamily.
Family:
  • 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

GENATLAS Biochemistry:
ubiquinol cytochrome c reductase,core protein 2,component of complex III of mitochondrial respiratory chain,oxidative phosphorylation (OXPHOS)
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.

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 21078624
GO:0008270 zinc ion binding IBA --
GO:0032403 protein 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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for UQCRC2 Gene COMPARTMENTS Subcellular localization image for UQCRC2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for UQCRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA 20833797
GO:0005743 mitochondrial inner membrane IEA,TAS --
GO:0005750 mitochondrial respiratory chain complex III IBA --
GO:0016020 membrane IEA --
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 IBA,TAS --
GO:0006508 proteolysis IEA --
GO:0009060 aerobic respiration TAS 8288258
GO:0016485 protein processing IBA --
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
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
genes like me logo Genes that share compounds with UQCRC2: view

Transcripts for UQCRC2 Gene

Unigene Clusters for UQCRC2 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: -
SP4:
SP5:
SP6:
SP7: - - - - - - - -

Relevant External Links for UQCRC2 Gene

GeneLoc Exon Structure for
UQCRC2
ECgene alternative splicing isoforms for
UQCRC2

Expression for UQCRC2 Gene

mRNA expression in normal human tissues 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, PaxDb, 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:

UQCRC2

SOURCE GeneReport for Unigene cluster for UQCRC2 Gene:

Hs.528803
genes like me logo Genes that share expression patterns with UQCRC2: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia UQCRC2 34 35
  • 99.41 (n)
cow
(Bos Taurus)
Mammalia UQCRC2 34 35
  • 89.85 (n)
dog
(Canis familiaris)
Mammalia UQCRC2 34 35
  • 89.77 (n)
mouse
(Mus musculus)
Mammalia Uqcrc2 34 16 35
  • 86.02 (n)
rat
(Rattus norvegicus)
Mammalia Uqcrc2 34
  • 85.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UQCRC2 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UQCRC2 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves UQCRC2 34 35
  • 70.51 (n)
lizard
(Anolis carolinensis)
Reptilia UQCRC2 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uqcrc2 34
  • 69.33 (n)
Str.5522 34
African clawed frog
(Xenopus laevis)
Amphibia uqcrc2-prov 34
zebrafish
(Danio rerio)
Actinopterygii uqcrc2b 34 35
  • 65.01 (n)
uqcrc2a 35
  • 56 (a)
OneToMany
wufb64g04 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10801 34
fruit fly
(Drosophila melanogaster)
Insecta CG4169 36 34 35
  • 43.61 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006099 34
  • 42.95 (n)
worm
(Caenorhabditis elegans)
Secernentea T10B10.2 36
  • 27 (a)
T24C4.1 36
  • 27 (a)
ucr-2.2 35
  • 27 (a)
OneToMany
ucr-2.3 35
  • 27 (a)
OneToMany
ucr-2.1 35
  • 24 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAS2 35
  • 23 (a)
OneToMany
QCR2 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G51980 34
  • 44.28 (n)
rice
(Oryza sativa)
Liliopsida Os01g0191500 34
  • 44.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3358 35
  • 33 (a)
OneToOne
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

ENSEMBL:
Gene Tree for UQCRC2 (if available)
TreeFam:
Gene Tree for UQCRC2 (if available)

Paralogs for UQCRC2 Gene

Paralogs for UQCRC2 Gene

Pseudogenes.org 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 Sequence Context AA Info Type
rs374661051 Mitochondrial complex III deficiency, nuclear 5 (MC3DN5) [MIM:615160], Pathogenic 21,965,440(+) CTTAC(A/C/T)GGAAT intron-variant, reference, synonymous-codon, missense
VAR_036479 A colorectal cancer sample
rs10521119 -- 21,971,873(+) AACCA(A/G)TGGTG intron-variant
rs1064575 -- 21,980,290(+) TGGAC(C/T)CACAA intron-variant
rs111302989 -- 21,959,106(+) CTGAT(C/G)AAGGT intron-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)

Relevant External Links for UQCRC2 Gene

Human Gene Mutation Database (HGMD)
UQCRC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UQCRC2

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

Disorders for UQCRC2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for UQCRC2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 5
  • mitochondrial complex v deficiency, nuclear type 3
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
mitochondrial respiratory chain complex iii deficiency, uqcrq2 related
  • mitochondrial complex iii deficiency, nuclear type 5
insomnia, fatal familial
  • fatal familial insomnia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

QCR2_HUMAN
  • 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.

Relevant External Links for UQCRC2

Genetic Association Database (GAD)
UQCRC2
Human Genome Epidemiology (HuGE) Navigator
UQCRC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UQCRC2
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. (J. Biol. Chem. 1989) 2 3 4 64
  2. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. (PMID: 23281071) Miyake N. … Matsumoto N. (Hum. Mutat. 2013) 3 4 64
  3. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M. … Tokunaga K. (Hum. Genet. 2010) 3 46 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for UQCRC2 Gene

Sources for UQCRC2 Gene

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