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

Aliases for UQCC2 Gene

Aliases for UQCC2 Gene

  • Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 2 2 3
  • Mitochondrial Nucleoid Factor 1 2 3 4
  • Breast Cancer-Associated Protein SGA-81M 3 4
  • Mitochondrial Protein M19 3 4
  • C6orf125 3 4
  • MNF1 3 4
  • M19 3 6
  • Ubiquinol-Cytochrome-C Reductase Complex Assembly Factor 2 3
  • Cytochrome B Protein Synthesis 6 Homolog (S. Cerevisiae) 2
  • Cytochrome B Protein Synthesis 6 Homolog 3
  • Chromosome 6 Open Reading Frame 125 2
  • BA6B20.2 3
  • C6orf126 6
  • Cbp6 3

External Ids for UQCC2 Gene

Previous Symbols for UQCC2 Gene

  • C6orf125
  • MNF1

Summaries for UQCC2 Gene

Entrez Gene Summary for UQCC2 Gene

  • This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012]

GeneCards Summary for UQCC2 Gene

UQCC2 (Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 2) is a Protein Coding gene. Diseases associated with UQCC2 include mitochondrial complex iii deficiency, nuclear type 7 and breast cancer.

UniProtKB/Swiss-Prot for UQCC2 Gene

  • Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP production and via its modulation of the respiratory chain activity can regulate skeletal muscle differentiation and insulin secretion by pancreatic beta-cells. Involved in cytochrome b translation and/or stability.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UQCC2 Gene

Genomics for UQCC2 Gene

Genomic Location for UQCC2 Gene

Start:
33,694,293 bp from pter
End:
33,711,751 bp from pter
Size:
17,459 bases
Orientation:
Minus strand

Genomic View for UQCC2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UQCC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UQCC2 Gene

No data available for Regulatory Elements for UQCC2 Gene

Proteins for UQCC2 Gene

  • Protein details for UQCC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRT2-UQCC2_HUMAN
    Recommended name:
    Ubiquinol-cytochrome-c reductase complex assembly factor 2
    Protein Accession:
    Q9BRT2
    Secondary Accessions:
    • B2R4I0

    Protein attributes for UQCC2 Gene

    Size:
    126 amino acids
    Molecular mass:
    14875 Da
    Quaternary structure:
    • Interacts with UQCC1.

neXtProt entry for UQCC2 Gene

Proteomics data for UQCC2 Gene at MOPED

Post-translational modifications for UQCC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UQCC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UQCC2 Gene

Domains for UQCC2 Gene

Gene Families for UQCC2 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Protein Domains for UQCC2 Gene

ProtoNet:
genes like me logo Genes that share domains with UQCC2: view

No data available for UniProtKB/Swiss-Prot for UQCC2 Gene

Function for UQCC2 Gene

Molecular function for UQCC2 Gene

UniProtKB/Swiss-Prot Function: Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP production and via its modulation of the respiratory chain activity can regulate skeletal muscle differentiation and insulin secretion by pancreatic beta-cells. Involved in cytochrome b translation and/or stability.

Gene Ontology (GO) - Molecular Function for UQCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24385928
genes like me logo Genes that share ontologies with UQCC2: view

miRNA for UQCC2 Gene

miRTarBase miRNAs that target UQCC2

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for UQCC2 Gene

Localization for UQCC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UQCC2 Gene

Mitochondrion matrix, mitochondrion nucleoid. Mitochondrion. Mitochondrion intermembrane space. Mitochondrion matrix. Mitochondrion inner membrane. Note=Predominantly expressed in the mitochondrial inner membrane. {ECO:0000250}.

Gene Ontology (GO) - Cellular Components for UQCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane ISS --
GO:0005758 mitochondrial intermembrane space ISS --
GO:0005759 mitochondrial matrix ISS --
genes like me logo Genes that share ontologies with UQCC2: view

Pathways for UQCC2 Gene

SuperPathways for UQCC2 Gene

No Data Available

Interacting Proteins for UQCC2 Gene

Gene Ontology (GO) - Biological Process for UQCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002082 regulation of oxidative phosphorylation IMP 22363741
GO:0034551 mitochondrial respiratory chain complex III assembly IDA 24385928
GO:0050796 regulation of insulin secretion ISS --
GO:0070131 positive regulation of mitochondrial translation IDA 24385928
GO:1903364 positive regulation of cellular protein catabolic process IMP 24385928
genes like me logo Genes that share ontologies with UQCC2: view

No data available for Pathways by source for UQCC2 Gene

Transcripts for UQCC2 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for UQCC2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - - - -
SP2:
SP3: - -
SP4:

Relevant External Links for UQCC2 Gene

GeneLoc Exon Structure for
UQCC2
ECgene alternative splicing isoforms for
UQCC2

Expression for UQCC2 Gene

mRNA expression in normal human tissues for UQCC2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for UQCC2 Gene

mRNA Expression by UniProt/SwissProt for UQCC2 Gene

Q9BRT2-UQCC2_HUMAN
Tissue specificity: Pancreas, skeletal muscle, kidney, liver and heart.
genes like me logo Genes that share expressions with UQCC2: view

Orthologs for UQCC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for UQCC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MNF1 36
  • 99.74 (n)
  • 99.21 (a)
UQCC2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MNF1 36
  • 89.15 (n)
  • 90.48 (a)
dog
(Canis familiaris)
Mammalia MNF1 36
  • 92.59 (n)
  • 90.48 (a)
UQCC2 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mnf1 16
Uqcc2 36
  • 90.48 (n)
  • 91.27 (a)
Uqcc2 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UQCC2 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UQCC2 37
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uqcc2 36
  • 89.95 (n)
  • 89.68 (a)
chicken
(Gallus gallus)
Aves C26H6ORF125 36
  • 72.8 (n)
  • 67.2 (a)
C26H6ORF125 37
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UQCC2 37
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6461 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.13587 36
uqcc2 36
  • 68.29 (n)
  • 64.23 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4405 36
zebrafish
(Danio rerio)
Actinopterygii Dr.17865 36
UQCC2 37
  • 60 (a)
OneToOne
zgc:73238 36
  • 62.81 (n)
  • 64.46 (a)
Species with no ortholog for UQCC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UQCC2 Gene

ENSEMBL:
Gene Tree for UQCC2 (if available)
TreeFam:
Gene Tree for UQCC2 (if available)

Paralogs for UQCC2 Gene

No data available for Paralogs for UQCC2 Gene

Variants for UQCC2 Gene

Sequence variations from dbSNP and Humsavar for UQCC2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs10025 -- 33,711,564(+) TCTCC(C/T)TCCCG synonymous-codon, reference
rs498114 -- 33,704,080(+) ATGAG(G/T)TGACG intron-variant
rs525623 -- 33,704,826(+) GTAGG(C/T)TGCTC intron-variant
rs542441 -- 33,708,074(+) AACCC(A/C)GCTTT intron-variant
rs572708 -- 33,700,080(+) AATGG(C/T)TTTTT intron-variant

Relevant External Links for UQCC2 Gene

HapMap Linkage Disequilibrium report
UQCC2
Human Gene Mutation Database (HGMD)
UQCC2

No data available for Structural Variations from Database of Genomic Variants (DGV) for UQCC2 Gene

Disorders for UQCC2 Gene

UniProtKB/Swiss-Prot

UQCC2_HUMAN
  • Mitochondrial complex III deficiency, nuclear 7 (MC3DN7) [MIM:615824]: A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN7 is characterized by severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction. Additional clinical features include a dysmorphic facial appearance, delayed psychomotor development, autistic features, aggressive behavior, and mild sensorineural hearing loss. {ECO:0000269 PubMed:24385928}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with UQCC2: view

Publications for UQCC2 Gene

  1. Association of a novel mitochondrial protein M19 with mitochondrial nucleoids. (PMID: 19643811) Sumitani M. … Endo H. (J. Biochem. 2009) 2 3 4
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  3. 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
  4. M19 modulates skeletal muscle differentiation and insulin secretion in pancreatic I^-cells through modulation of respiratory chain activity. (PMID: 22363741) Cambier L. … PomiA"s P. (PLoS ONE 2012) 3 4
  5. Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. (PMID: 24385928) Tucker E.J. … Thorburn D.R. (PLoS Genet. 2013) 3 4

Products for UQCC2 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate UQCC2
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for UQCC2
    • Block miRNA regulation of UQCC2 using miScript Target Protectors

    Sources for UQCC2 Gene

    Back to Top

    Content