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UQCC2 Gene

protein-coding   GIFtS: 34
GCID: GC06M033669

Ubiquinol-Cytochrome C Reductase Complex Assembly Factor...

(Previous names: chromosome 6 open reading frame 125, mitochondrial nucleoid...)
(Previous symbols: C6orf125, MNF1)
  See UQCC2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 21 2     Cytochrome B Protein Synthesis 6 Homolog (S. Cerevisiae)1
Mitochondrial Nucleoid Factor 11 2 3     Cbp62
C6orf1251 2 3     bA6B20.22
MNF11 2 3     Breast Cancer Associated Protein SGA-81M2
Breast Cancer-Associated Protein SGA-81M2 3     Cytochrome B Protein Synthesis 6 Homolog2
Mitochondrial Protein M192 3     Ubiquinol-Cytochrome-C Reductase Complex Assembly Factor 22
M192 5     C6orf1265
Chromosome 6 Open Reading Frame 1251     

External Ids:    HGNC: 212371   Entrez Gene: 843002   Ensembl: ENSG000001372887   OMIM: 6144615   UniProtKB: Q9BRT23   

Export aliases for UQCC2 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 mitochondrial complex iii deficiency, nuclear type 6.

UniProtKB/Swiss-Prot: UQCC2_HUMAN, Q9BRT2
Function: 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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for UQCC2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUQCC2 promoter sequence
   Search Chromatin IP Primers for UQCC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UQCC2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.31   Ensembl cytogenetic band:  6p21.31   HGNC cytogenetic band: 6p21.31

UQCC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UQCC2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M033669:  view genomic region     (about GC identifiers)

Start:
33,662,070 bp from pter      End:
33,679,504 bp from pter
Size:
17,435 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: UQCC2_HUMAN, Q9BRT2 (See protein sequence)
Recommended Name: Ubiquinol-cytochrome-c reductase complex assembly factor 2 precursor  
Size: 126 amino acids; 14875 Da
Secondary accessions: B2R4I0

Explore the universe of human proteins at neXtProt for UQCC2: NX_Q9BRT2

Explore proteomics data for UQCC2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See UQCC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115716.1  
    ENSEMBL proteins: 
     ENSP00000363348   ENSP00000476140   ENSP00000363331  

    UQCC2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MITOAF: Mitochondrial respiratory chain complex assembly factors

    ProtoNet protein and cluster: Q9BRT2


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UQCC2_HUMAN, Q9BRT2
    Function: 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

    Animal Models:

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    miRNA
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    miRTarBase miRNAs that target UQCC2:
    hsa-mir-320a (MIRT044748)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UQCC2_HUMAN, Q9BRT2: Mitochondrion matrix, mitochondrion nucleoid. Mitochondrion. Mitochondrion intermembrane
    space (By similarity). Mitochondrion matrix (By similarity). Mitochondrion inner membrane (By similarity).
    Note=Predominantly expressed in the mitochondrial inner membrane (By similarity)

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane ISS--
    GO:0005758mitochondrial intermembrane space ISS--

    Find genes that share ontologies with UQCC2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UQCC2
    Interactions:

        Search GeneGlobe Interaction Network for UQCC2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for UQCC2 (Q9BRT23 ENSP000003633484) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IKBKEQ141643I2D: score=1 
    VHLP403373I2D: score=1 
    CEACAM5ENSP000002219924STRING: ENSP00000221992
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002082regulation of oxidative phosphorylation IMP--
    GO:0050796regulation of insulin secretion ISS--
    GO:2001014regulation of skeletal muscle cell differentiation ISS--

    Find genes that share ontologies with UQCC2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UQCC2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UQCC2 gene: 
    NM_032340.3  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000606961 ENST00000374231(uc003ofa.1 uc010jve.1) ENST00000607484
    ENST00000374214
    miRNA
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    OriGene qPCR primer pairs and template standards for UQCC2
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      QuantiTect SYBR Green Assays in human, mouse, rat UQCC2
      QuantiFast Probe-based Assays in human, mouse, rat UQCC2

    Selected AceView cDNA sequences (see all 109):

    F36633 BE907725 AA321626 AI734878 AF086234 BQ441152 BM699872 BM708842 
    AA933045 AI598252 AI239551 AA314199 AI241216 BE908540 CA396351 AA372713 
    AA372977 AY568085 BI522811 W57917 AI015250 BI604191 AI583241 BG181737 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for UQCC2    About this scheme

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


    ECgene alternative splicing isoforms for UQCC2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UQCC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    UQCC2 Expression
    About this image

    UQCC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UQCC2 Protein Expression

    UniProtKB/Swiss-Prot: UQCC2_HUMAN, Q9BRT2
    Tissue specificity: Pancreas, skeletal muscle, kidney, liver and heart

        Custom PCR Arrays for UQCC2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UQCC2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for UQCC2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mnf15
    Uqcc21
    RIKEN cDNA 2900010M23 gene5
    ubiquinol-cytochrome c reductase complex assembly factor more1
    90.48(n)1
    91.27(a)1
      17 (13.75 cM)5
    672671  NM_026063.21  NP_080339.11 
     271226635 
    chicken
    (Gallus gallus)
    Aves C26H6ORF1251 chromosome 26 open reading frame, human C6orf125 72.8(n)
    67.2(a)
      419909  NM_001271612.1  NP_001258541.1 
    lizard
    (Anolis carolinensis)
    Reptilia UQCC26
    ubiquinol-cytochrome c reductase complex assembly ...
    68(a)
    1 ↔ 1
    4(123028225-123040052)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.64612 Xenopus laevis transcribed sequence with weak similarity more 76.47(n)    AW633544.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.178652 Transcribed sequence with moderate similarity to protein more 76.5(n)    AL722150.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UQCC2 (see all 355)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1159857631,2
    C,F--33666600(+) CAGTAC/TGGAAC 1 -- int12Minor allele frequency- T:0.03NA EA 240
    rs752417561,2
    F--33666615(+) TGTCTA/GAAGTC 1 -- int11Minor allele frequency- G:0.03EA 120
    rs1477692831,2
    --33666655(+) TTTACA/GTGCAT 1 -- int10--------
    rs94619011,2
    F,H--33666717(+) TTCACG/ATTAAC 1 -- int14Minor allele frequency- A:0.00NS EA 408
    rs1502715221,2
    C--33666745(+) AAGAG-/TTATCT 1 -- int10--------
    rs1876071581,2
    --33666854(+) GGCGCC/TTTCCA 1 -- int10--------
    rs1915207521,2
    --33667031(+) GCTTGC/GTGTGA 1 -- int10--------
    rs1124963001,2
    F--33667071(+) AAACTC/TGCTGC 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1451287641,2
    --33667092(+) TGCAGC/TGCGGA 1 -- int10--------
    rs47136581,2
    C,F,A,H--33667117(+) ATCTCG/CCAGCC 1 -- int130Minor allele frequency- C:0.44NS EA NA WA 3842

    HapMap Linkage Disequilibrium report for UQCC2 (33662070 - 33679504 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for UQCC2: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UQCC2
    DNA2.0 Custom Variant and Variant Library Synthesis for UQCC2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614461    OMIM disorders: --

    3 diseases for UQCC2:    
    About MalaCards
    mitochondrial complex iii deficiency, nuclear type 7    mitochondrial complex iii deficiency, nuclear type 6    breast cancer


    Find genes that share disorders with UQCC2           About GenesLikeMe


    Export disorders for UQCC2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for UQCC2 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with UQCC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of a novel mitochondrial protein M19 with mitochondrial nucleoids. (PubMed id 19643811)1, 2, 3 Sumitani M.... Endo H. (J. Biochem. 2009)
    2. M19 modulates skeletal muscle differentiation and insulin secretion in pancreatic I^-cells through modulation of respiratory chain activity. (PubMed id 22363741)1, 2 Cambier L....PomiA"s P. (PLoS ONE 2012)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    5. Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. (PubMed id 24385928)1 Tucker E.J....Thorburn D.R. (PLoS Genet. 2013)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. (PubMed id 22277967)1 Calvo S.E.... Mootha V.K. (Sci. Transl. Med. 2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    10. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84300 HGNC: 21237 AceView: C6orf125 Ensembl:ENSG00000137288 euGenes: HUgn84300
    ECgene: UQCC2 H-InvDB: UQCC2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UQCC2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UQCC2 gene:
    Search GeneIP for patents involving UQCC2

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Browse ESI BIO Cell Lines and PureStem Progenitors for UQCC2
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