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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UQCRC2 Gene

protein-coding   GIFtS: 66
GCID: GC16P021963

Ubiquinol-Cytochrome C Reductase Core Protein II

Alzheimer's & Parkinson's Diseases Congress
  See 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)
About This Section

Aliases
Ubiquinol-Cytochrome C Reductase Core Protein II1 2     MC3DN52
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for UQCRC2 Gene: 
UQCRC2 (ubiquinol-cytochrome c reductase core protein II) is a protein-coding gene. Diseases associated with UQCRC2 include narcolepsy, and macular degeneration, and among its related super-pathways are Electron Transport Chain and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for UQCRC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P22695

  • UQCRC2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UQCRC2 Protein Expression
    REFSEQ proteins: NP_003357.2  
    ENSEMBL proteins: 
     ENSP00000268379   ENSP00000457662   ENSP00000456232   ENSP00000455088   ENSP00000456738  
     ENSP00000457600  
    Reactome Protein details: P22695
    Human Recombinant Protein Products for UQCRC2: 
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    ProSpec Recombinant Protein for UQCRC2
    Cloud-Clone Corp. Proteins for UQCRC2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    UQCRC2 for ontologies           About GeneDecksing



    UQCRC2 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for UQCRC2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    comIII: Mitochondrial respiratory chain complex / Complex III

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

    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


    UQCRC2 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    UQCRC2 for ontologies           About GeneDecksing


    Animal Models:
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UQCRC2 About                                                                                                See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    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
    Parkinson's disease0.61
    Respiratory electron transport0.81
    Huntington's disease0.47
    Electron Transport Chain0.75
    Alzheimer's disease0.46
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Non-alcoholic fatty liver disease (NAFLD)0.41
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Cardiac muscle contraction
    Cardiac muscle contraction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for UQCRC2
        Electron Transport Chain

    4        Reactome Pathways for UQCRC2
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport


    5/7         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


    UQCRC2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UQCRC2

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

    5/340 Interacting proteins for UQCRC2 (P226951, 2, 3 ENSP000002683794) via UniProtKB, MINT, STRING, and/or I2D (see all 340)
    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

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

    UQCRC2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    Search CenterWatch for drugs/clinical trials and news about UQCRC2 / QCR2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    Additional mRNA sequence: 

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

    24/51 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 

    24/1141 AceView cDNA sequences (see all 1141):

    H63513 BP368427 CR603517 AA343506 CR605702 BQ181225 BV176933 BG575746 
    BI039803 BQ430319 BM977740 AA018492 BI039769 CR610739 BV180456 BM771543 
    BQ639099 NM_003366 BM468217 BU521784 AA197228 AI434483 BM846868 BX460407 

    GeneLoc Exon Structure

    5/7 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UQCRC2 expression in normal human tissues (normalized intensities)      UQCRC2 embryonic expression: see
    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 
     5/38 selected tissues (see all 38) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
             brain/midbrain   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart muscle ; myocytes   
             heart/atrium   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Epithelium
             esophagus ; squamous epithelial cells   

    See UQCRC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UQCRC2

    SOURCE GeneReport for Unigene cluster: Hs.528803
        SABiosciences Expression via Pathway-Focused PCR Arrays including UQCRC2: 
              Mitochondrial Energy Metabolism in human mouse rat
              Alzheimer's Disease in human mouse rat

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    In Situ
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    (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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UQCRC2 gene from 9/19 species (see all 19)    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 70.81(n)
    72.85(a)
      427009  XM_424611.3  XP_424611.2 
    lizard
    (Anolis carolinensis)
    Reptilia UQCRC26
    Uncharacterized protein
    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
    BEST:GH109781
    32(a)3
    43.2(n)1
    33.33(a)1
      73A103
    398461  NM_140648.21  NP_648905.11 
    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 
    rice
    (Oryza sativa)
    Liliopsida Os01g01915001 hypothetical protein 44.47(n)
    32.46(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)
    About This Section
    Paralogs for UQCRC2 gene
    PMPCA2  

    UQCRC2 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/550 SNPs in UQCRC2 are shown (see all 550)    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--------
    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--------
    rs29658071,2
    C,F,A,H--21963203(-) CTCCAG/TTGTCT 1 -- us2k117Minor allele frequency- T:0.20NS EA NA WA CSA 796

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 191329    OMIM disorders: --

    8 diseases for UQCRC2:    About MalaCards
    narcolepsy    macular degeneration    huntington's disease    ataxia
    parkinson's disease    renal cell carcinoma    tuberculosis    alzheimer's disease


    UQCRC2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    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)
    About This Section

    PubMed articles for UQCRC2 gene, integrated from 9 sources (see all 44):
    (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. (1989)
    2. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (2010)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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. (2004)
    6. 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. (1993)
    7. 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. (2013)
    8. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    9. Mitochondrial complex III deficiency caused by a homoz ygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompe nsation. (PubMed id 23281071)1 Miyake N....Matsumoto N. (2013)
    10. Novel, gel-free proteomics approach identifies RNF5 an d JAMP as modulators of GPCR stability. (PubMed id 23798571)1 Roy S.J....Parent J.L. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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      Query String
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      (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)
    About This Section
    Entrez Gene: 7385 HGNC: 12586 AceView: UQCRC2 Ensembl:ENSG00000140740 euGenes: HUgn7385
    ECgene: UQCRC2 Kegg: 7385 H-InvDB: UQCRC2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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



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