Free for academic non-profit institutions. Other users need a Commercial license

Aliases for UQCRC2 Gene

Aliases for UQCRC2 Gene

  • Ubiquinol-Cytochrome C Reductase Core Protein II 2 3
  • Ubiquinol-Cytochrome-C Reductase Complex Core Protein 2 3 4
  • Complex III Subunit 2 3 4
  • Core Protein II 3 4
  • MC3DN5 3 6
  • Cytochrome B-C1 Complex Subunit 2, Mitochondrial 3
  • UQCR2 3
  • QCR2 3

External Ids for UQCRC2 Gene

Summaries for UQCRC2 Gene

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 Metabolism. 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 Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UQCRC2 Gene

Genomics for UQCRC2 Gene

Genomic Location for UQCRC2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UQCRC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UQCRC2 Gene

Regulatory Elements 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

Proteomics data for UQCRC2 Gene at MOPED

Post-translational modifications for UQCRC2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys162, Lys199, Lys250, and Lys359

Other Protein References for UQCRC2 Gene

No data available for DME Specific Peptides for UQCRC2 Gene

Domains for UQCRC2 Gene

Gene Families for UQCRC2 Gene

HGNC:
  • comIII :Mitochondrial respiratory chain complex / Complex III

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
Family:
  • Belongs to the peptidase M16 family. UQCRC2/QCR2 subfamily.:
    • P22695
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:0003824 catalytic activity --
GO:0004222 metalloendopeptidase activity IEA --
GO:0005515 protein binding IPI 21078624
GO:0032403 protein complex binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with UQCRC2: view

miRNA for UQCRC2 Gene

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
mitochondrion 5
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for UQCRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005750 mitochondrial respiratory chain complex III IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with UQCRC2: view

Pathways 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:0006508 proteolysis IEA --
GO:0009060 aerobic respiration TAS 8288258
GO:0022904 respiratory electron transport chain TAS --
GO:0044237 cellular metabolic process TAS --
genes like me logo Genes that share ontologies with UQCRC2: view

Compounds for UQCRC2 Gene

(3) HMDB Compounds for UQCRC2 Gene

Compound Synonyms Cas Number PubMed IDs
QH2
  • CoQH2
56275-39-9
Ubiquinone Q1
  • Coenzyme Q
727-81-1
Ubiquinone Q2
  • 2-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione
606-06-4

(8) Drugbank Compounds for UQCRC2 Gene

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

Transcripts for UQCRC2 Gene

mRNA/cDNA for UQCRC2 Gene

Unigene Clusters for UQCRC2 Gene

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

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Heart - Left Ventricle (4.8) and Muscle - Skeletal (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for UQCRC2 Gene

SOURCE GeneReport for Unigene cluster for UQCRC2 Gene Hs.528803

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

No data available for 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 35
  • 99.41 (n)
  • 99.34 (a)
UQCRC2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UQCRC2 35
  • 89.85 (n)
  • 89.4 (a)
UQCRC2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UQCRC2 35
  • 89.77 (n)
  • 88.52 (a)
UQCRC2 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uqcrc2 35
  • 86.02 (n)
  • 85.65 (a)
Uqcrc2 16
Uqcrc2 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UQCRC2 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UQCRC2 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uqcrc2 35
  • 85.77 (n)
  • 83.85 (a)
chicken
(Gallus gallus)
Aves UQCRC2 35
  • 70.51 (n)
  • 72.85 (a)
UQCRC2 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UQCRC2 36
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia uqcrc2-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5522 35
uqcrc2 35
  • 69.33 (n)
  • 70.22 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10801 35
zebrafish
(Danio rerio)
Actinopterygii uqcrc2a 36
  • 56 (a)
OneToMany
uqcrc2b 35
  • 65.01 (n)
  • 62.44 (a)
uqcrc2b 36
  • 61 (a)
OneToMany
wufb64g04 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006099 35
  • 42.95 (n)
  • 36.32 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4169 35
  • 43.61 (n)
  • 34.34 (a)
CG4169 36
  • 31 (a)
OneToOne
CG4169 37
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea ucr-2.1 36
  • 24 (a)
OneToMany
ucr-2.2 36
  • 27 (a)
OneToMany
ucr-2.3 36
  • 27 (a)
OneToMany
T10B10.2 37
  • 27 (a)
T24C4.1 37
  • 27 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAS2 36
  • 23 (a)
OneToMany
QCR2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G51980 35
  • 44.28 (n)
  • 33.82 (a)
rice
(Oryza sativa)
Liliopsida Os01g0191500 35
  • 44.52 (n)
  • 32.61 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3358 36
  • 33 (a)
OneToOne
Species with no ortholog for UQCRC2:
  • 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 MAF
rs4850 - 21,965,441(+) TTACC(A/G)GAATG missense, reference
rs938894 -- 21,964,406(+) CTGAC(C/G)TGAAA intron-variant
rs1803307 -- 21,976,198(+) AAAAA(C/G)AATAG reference, missense
rs1803310 -- 21,957,456(+) CTTTG(G/T)AAAAC reference, stop-gained
rs1803311 -- 21,957,443(+) TTGGT(G/T)ATTGC reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
esv34235 CNV Gain 17911159
nsv428322 CNV Gain 18775914
esv34544 CNV Gain 17911159
nsv7280 OTHER Inversion 18451855
dgv3n1 OTHER Inversion 15895083
nsv511047 OTHER Inversion 20534489
dgv47n16 OTHER Inversion 17901297
nsv499139 OTHER Inversion 21111241
esv998989 OTHER Inversion 20482838
esv2714070 CNV Deletion 23290073
dgv48n16 CNV Insertion 17901297
nsv1764 CNV Loss 18451855
nsv435668 CNV Deletion 17901297
nsv498860 CNV Loss 21111241
dgv2647n71 CNV Loss 21882294
nsv905598 CNV Gain 21882294
nsv519813 CNV Gain+Loss 19592680

Relevant External Links for UQCRC2 Gene

HapMap Linkage Disequilibrium report
UQCRC2
Human Gene Mutation Database (HGMD)
UQCRC2

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

Disorders for UQCRC2 Gene

(1) OMIM Diseases for UQCRC2 Gene (191329)

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

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
  2. Assignment of the gene for the core protein II (UQCRC2) subunit of the mitochondrial cytochrome bc1 complex to human chromosome 16p12. (PMID: 8288258) Duncan A.M. … Rozen R. (Genomics 1993) 2 3
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for UQCRC2 Gene

Sources for UQCRC2 Gene

Back to Top

Content