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UQCRC2 Gene

protein-coding   GIFtS: 67
GCID: GC16P021963

Ubiquinol-Cytochrome C Reductase Core Protein II

  See UQCRC2-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 Core Protein II1 2     MC3DN52 5
Complex III Subunit 22 3     QCR22
Core Protein II2 3     UQCR22
Ubiquinol-Cytochrome-C Reductase Complex Core Protein 22 3     Cytochrome B-C1 Complex Subunit 2, Mitochondrial2

External Ids:    HGNC: 125861   Entrez Gene: 73852   Ensembl: ENSG000001407407   OMIM: 1913295   UniProtKB: P226953   

Export aliases for UQCRC2 gene to outside databases

Previous GC identifers: GC16P021372 GC16P021972 GC16P021930 GC16P021931 GC16P021872 GC16P020209


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 v deficiency, nuclear type 3, and mitochondrial complex iii deficiency, nuclear type 6. GO annotations related to this gene include protein complex binding and metalloendopeptidase activity. An important paralog of this gene is PMPCA.

UniProtKB/Swiss-Prot: QCR2_HUMAN, P22695
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 Wiki entry for UQCRC2 Gene


(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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RefSeq DNA sequence:
NC_000016.10  NC_018927.2  NT_187260.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the UQCRC2 gene promoter:
         NF-1   p53   AML1a   AP-1   FOXL1   C/EBPalpha   CHOP-10   FOXO4   Pax-4a   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUQCRC2 promoter sequence
   Search Chromatin IP Primers for UQCRC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UQCRC2


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

Entrez Gene cytogenetic band: 16p12   Ensembl cytogenetic band:  16p12.2   HGNC cytogenetic band: 16p12

UQCRC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UQCRC2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P021963:  view genomic region     (about GC identifiers)

Start:
21,963,981 bp from pter      End:
21,994,981 bp from pter
Size:
31,001 bases      Orientation:
plus 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: QCR2_HUMAN, P22695 (See protein sequence)
Recommended Name: Cytochrome b-c1 complex subunit 2, mitochondrial precursor  
Size: 453 amino acids; 48443 Da
Subunit: 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)
Caution: Does not seem to have a protease activity as it lack the zinc-binding site
Secondary accessions: B3KSN4 Q9BQ05

Explore the universe of human proteins at neXtProt for UQCRC2: NX_P22695

Explore proteomics data for UQCRC2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys162, Lys199, Lys250, Lys359
  • Modification sites at PhosphoSitePlus

  • See UQCRC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003357.2  
    ENSEMBL proteins: 
     ENSP00000268379   ENSP00000457662   ENSP00000456232   ENSP00000455088   ENSP00000456738  
     ENSP00000457600  
    Reactome Protein details: P22695

    UQCRC2 Human Recombinant Protein Products:

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    Novus Biologicals UQCRC2 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for UQCRC2

     
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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:
    comIII: Mitochondrial respiratory chain complex / Complex III

    5 InterPro protein domains:
     IPR001431 Pept_M16_Zn_BS
     IPR011765 Pept_M16_N
     IPR011237 Pept_M16_dom
     IPR007863 Peptidase_M16_C
     IPR011249 Metalloenz_LuxS/M16

    Graphical View of Domain Structure for InterPro Entry P22695

    ProtoNet protein and cluster: P22695

    1 Blocks protein domain: IPB001431 Insulinase-like peptidase

    UniProtKB/Swiss-Prot: QCR2_HUMAN, P22695
    Similarity: Belongs to the peptidase M16 family. UQCRC2/QCR2 subfamily


    Find genes that share domains with UQCRC2           About GenesLikeMe


    (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: QCR2_HUMAN, P22695
    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 entry for UQCRC2:
    ubiquinol cytochrome c reductase,core protein 2,component of complex III of mitochondrial respiratory
    chain,oxidative phosphorylation (OXPHOS)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005515protein binding IPI--
    GO:0032403protein complex binding IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with UQCRC2           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UQCRC2
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    miRNA
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    miRTarBase miRNAs that target UQCRC2:
    hsa-mir-196a-5p (MIRT048245), hsa-mir-26b-5p (MIRT029392), hsa-mir-23b-3p (MIRT046254), hsa-mir-192-5p (MIRT026478)

    Block miRNA regulation of human, mouse, rat UQCRC2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate UQCRC2:
    hsa-miR-33a* hsa-miR-4307
    SwitchGear 3'UTR luciferase reporter plasmidUQCRC2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UQCRC2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: UQCRC2 (NM_003366)
    Sino Biological Human cDNA Clone for UQCRC2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UQCRC2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UQCRC2


    (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
    QCR2_HUMAN, P22695: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005750mitochondrial respiratory chain complex III IEA--

    Find genes that share ontologies with UQCRC2           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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    SuperPaths for UQCRC2 About    
    See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    Oxidative phosphorylation0.64
    Respiratory electron transport0.81
    Parkinson's disease0.57
    Electron Transport Chain0.75
    Huntington's disease0.45
    The citric acid (TCA) cycle and respiratory electron transport0.71
    Non-alcoholic fatty liver disease (NAFLD)0.41
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Alzheimer's disease
    Alzheimer's disease0.44
    4Cardiac muscle contraction
    Cardiac muscle contraction


    Find genes that share SuperPaths with UQCRC2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for UQCRC2
        Electron Transport Chain


    1 Reactome Pathway for UQCRC2
        Respiratory electron transport


    Selected Kegg Pathways  (Kegg details for UQCRC2) (see all 7):
        Oxidative phosphorylation
    Metabolic pathways
    Cardiac muscle contraction
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease

        Pathway & Disease-focused RT2 Profiler PCR Arrays including UQCRC2: 
              Mitochondrial Energy Metabolism in human mouse rat
              Alzheimer's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UQCRC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for UQCRC2 (P226951, 2, 3 ENSP000002683794) via UniProtKB, MINT, STRING, and/or I2D (see all 458)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CACNA1AO005551, 3EBI-1051424,EBI-766279 I2D: score=1 
    UQCRC1P319302, 3, ENSP000002034074MINT-8079030 I2D: score=4 STRING: ENSP00000203407
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    SLX1AQ9BQ833, ENSP000002513034I2D: score=2 STRING: ENSP00000251303
    SLX1BQ9BQ833, ENSP000003289404I2D: score=2 STRING: ENSP00000328940
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006119oxidative phosphorylation TAS8288258
    GO:0006508proteolysis ----
    GO:0009060aerobic respiration TAS8288258
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--

    Find genes that share ontologies with UQCRC2           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 UQCRC2 (QCR2)

    3 HMDB Compounds for UQCRC2    About this table
    CompoundSynonyms CAS #PubMed Ids
    QH2CoQH2 (see all 5)56275-39-9--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
    Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

    8 DrugBank Compounds for UQCRC2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE-- --target--10592235
    2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol-- --target--10592235
    2-NONYL-4-HYDROXYQUINOLINE N-OXIDE-- --target--10592235
    5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole3-undecyl-2-hydroxydioxobenzothiazol (see all 4)43152-58-5target--10592235
    FAMOXADONE-- --target--10592235
    METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE-- --target--10592235
    METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE-- --target--10592235
    UBIQUINONE-2-- --target--10592235



    (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 UQCRC2 gene: 
    NM_003366.2  

    Unigene Cluster for UQCRC2:

    Ubiquinol-cytochrome c reductase core protein II
    Hs.528803  [show with all ESTs]
    Unigene Representative Sequence: AK094006
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000268379(uc002djx.3) ENST00000565464 ENST00000567757 ENST00000561553
    ENST00000565331 ENST00000563898 ENST00000564095 ENST00000567597 ENST00000563711(uc002djz.1)
    ENST00000567810 ENST00000561798
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate UQCRC2:
    hsa-miR-33a* hsa-miR-4307
    SwitchGear 3'UTR luciferase reporter plasmidUQCRC2 3' UTR sequence
    Inhib. RNA
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    OriGene qSTAR qPCR primer pairs in human, mouse for UQCRC2
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      QuantiTect SYBR Green Assays in human, mouse, rat UQCRC2
      QuantiFast Probe-based Assays in human, mouse, rat UQCRC2

    Additional mRNA sequence: 

    AK093106.1 AK094006.1 AK307535.1 BC000484.2 BC003136.1 J04973.1 

    Selected DOTS entries (see all 51):

    DT.86847332  DT.100885423  DT.91776406  DT.91776402  DT.100885410  DT.97760210  DT.100885433  DT.100885418 
    DT.120658772  DT.97760207  DT.120658790  DT.100885428  DT.100885430  DT.95364616  DT.100885406  DT.100885401 
    DT.100059754  DT.91776420  DT.100885415  DT.97760209  DT.100885427  DT.100885424  DT.95372596  DT.100057343 

    Selected AceView cDNA sequences (see all 1141):

    CD358338 AA249272 BM782401 BQ651447 BM707897 BU187443 BQ939745 CR620233 
    BM856816 BM564880 BQ878365 AL551023 BM997209 N85290 CR612237 BG697045 
    BQ053479 BM743209 BU168067 CA427285 H63513 BP368427 CR603517 AA343506 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for UQCRC2 (see all 7)    About this scheme

    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:                                                                                                                                                      


    ECgene alternative splicing isoforms for UQCRC2

    (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)
    About This Section

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    UQCRC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGTCAGAA
    UQCRC2 Expression
    About this image


    UQCRC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)
             Oviduct
     
     Eye (Sensory Organs)
             Lens
    UQCRC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UQCRC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.528803
        Pathway & Disease-focused RT2 Profiler PCR Arrays including UQCRC2: 
              Mitochondrial Energy Metabolism in human mouse rat
              Alzheimer's Disease in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for UQCRC2
    OriGene qSTAR qPCR primer pairs in human, mouse for UQCRC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UQCRC2
    QuantiTect SYBR Green Assays in human, mouse, rat UQCRC2
    QuantiFast Probe-based Assays in human, mouse, rat UQCRC2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UQCRC2

    (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)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UQCRC2 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uqcrc21 , 5 ubiquinol cytochrome c reductase core protein 21, 5 86.02(n)1
    85.65(a)1
      7 (64.90 cM)5
    670031  NM_025899.21  NP_080175.11 
     1206351765 
    chicken
    (Gallus gallus)
    Aves UQCRC21 ubiquinol-cytochrome c reductase core protein II 70.51(n)
    72.85(a)
      427009  XM_424611.4  XP_424611.2 
    lizard
    (Anolis carolinensis)
    Reptilia UQCRC26
    ubiquinol-cytochrome c reductase core protein II
    70(a)
    1 ↔ 1
    GL344422.1(5362-18493)
    African clawed frog
    (Xenopus laevis)
    Amphibia uqcrc2-prov2 Ubiquinol-cytochrome C reductase complex 76.03(n)    BC042931.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb64g042 Danio rerio cDNA clone IMAGE2643994, partial cds 74.33(n)    BC054137.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG41691 , 3 ubiquinol-cytochrome c reductase3
    CG41691
    32(a)3
    43.61(n)1
    34.34(a)1
      73A103
    398461  NM_001275026.11  NP_001261955.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T10B10.23 ubiquinol-cytochrome c reductase
    complex core more
    27(a)
    (best of 2)
      X(15209127-15213199)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes QCR2(YPR191W)4 Subunit 2 of the ubiquinol cytochrome-c reductase complex, more   --   16(919381-920487) 856321  NP_015517.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G519801 AT1G51980 44.28(n)
    33.82(a)
      841627  NM_104079.3  NP_175610.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g01915001 Os01g0191500 44.52(n)
    32.61(a)
      4327300  NM_001048807.2  NP_001042272.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UQCRC2 gene
    PMPCA2  

    Find genes that share paralogs with UQCRC2           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for UQCRC2
    PGOHUM00000237612 PGOHUM00000243251


    (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)
    About This Section

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    Selected SNPs for UQCRC2 (see all 551)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0364794
    A colorectal cancer sample4--see VAR_0364792 F Y mis40--------
    VAR_0697094
    Mitochondrial complex III deficiency, nuclear 5 (MC3DN5)4--see VAR_0697092 R W mis40--------
    rs1450124321,2
    --21962670(+) TTTCTG/TATATT 1 -- us2k10--------
    rs1491189311,2
    C--21962718(+) TGTGG-/GTGTGTG 1 -- us2k10--------
    rs345526441,2
    C--21962728(+) GTGTG-/TGTGTGT 1 -- us2k12Minor allele frequency- TG:0.25NA 4
    rs1876444271,2
    --21962732(+) GTGTGA/TGTGTG 1 -- us2k10--------
    rs1431768381,2
    C--21962879(+) GCTTTA/GTATGC 1 -- us2k10--------
    rs1482855681,2
    --21962948(+) GCAGGC/GAGGTG 1 -- us2k10--------
    rs1429902211,2
    --21963006(+) TAACAC/TATTCA 1 -- us2k10--------
    rs1913128051,2
    --21963029(+) TATCTC/TCGTAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UQCRC2 (21963981 - 21994981 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for UQCRC2 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714070CNV Deletion23290073
    nsv435668CNV Deletion17901297
    dgv48n16CNV Insertion17901297
    nsv498860CNV Loss21111241
    nsv1764CNV Loss18451855
    dgv2647n71CNV Loss21882294
    nsv905598CNV Gain21882294
    esv34544CNV Gain17911159
    esv34235CNV Gain17911159
    nsv428322CNV Gain18775914

    Human Gene Mutation Database (HGMD): UQCRC2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UQCRC2
    DNA2.0 Custom Variant and Variant Library Synthesis for UQCRC2

    (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: 191329   
    OMIM disorders: 615160  
    UniProtKB/Swiss-Prot: QCR2_HUMAN, P22695
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 3 diseases for UQCRC2:    
    About MalaCards
    mitochondrial complex v deficiency, nuclear type 3    mitochondrial complex iii deficiency, nuclear type 6    mitochondrial complex iii deficiency


    Find genes that share disorders with UQCRC2           About GenesLikeMe

    Genetic Association Database (GAD): UQCRC2
    Human Genome Epidemiology (HuGE) Navigator: UQCRC2 (2 documents)

    Export disorders for UQCRC2 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 UQCRC2 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with UQCRC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complementary DNA encoding core protein II of human mitochondrial cytochrome bc1 complex. Substantial diversity in deduced primary structure from its yeast counterpart. (PubMed id 2547763)1, 2, 3 Hosokawa Y.... Ozawa T. (J. Biol. Chem. 1989)
    2. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. (PubMed id 23281071)1, 2 Miyake N....Matsumoto N. (Hum. Mutat. 2013)
    3. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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)
    7. Assignment of the gene for the core protein II (UQCRC2) subunit of the mitochondrial cytochrome bc1 complex to human chromosome 16p12. (PubMed id 8288258)1, 3 Duncan A.M....Rozen R. (Genomics 1993)
    8. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (J. Proteome Res. 2013)
    9. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    10. Novel, gel-free proteomics approach identifies RNF5 and JAMP as modulators of GPCR stability. (PubMed id 23798571)1 Roy S.J....Parent J.L. (Mol. Endocrinol. 2013)

    (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: 7385 HGNC: 12586 AceView: UQCRC2 Ensembl:ENSG00000140740 euGenes: HUgn7385
    ECgene: UQCRC2 Kegg: 7385 H-InvDB: UQCRC2

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for UQCRC2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for UQCRC2 gene:
    Search GeneIP for patents involving UQCRC2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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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