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UQCRC2 (ubiquinol-cytochrome c reductase core protein II)

Identity

Alias_symbol (synonym)QCR2
UQCR2
HGNC (Hugo) UQCRC2
LocusID (NCBI) 7385
Atlas_Id 54758
Location 16p12.2  [Link to chromosome band 16p12]
Location_base_pair Starts at 21964385 and ends at 21994981 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EEF2K (16p12.2) / UQCRC2 (16p12.2)RFT1 (3p21.1) / UQCRC2 (16p12.2)RPL8 (8q24.3) / UQCRC2 (16p12.2)
UQCRC2 (16p12.2) / LGALS1 (22q13.1)UQCRC2 (16p12.2) / UQCRC2 (16p12.2)EEF2K 16p12.2 / UQCRC2 16p12.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)UQCRC2   12586
Cards
Entrez_Gene (NCBI)UQCRC2  7385  ubiquinol-cytochrome c reductase core protein II
AliasesMC3DN5; QCR2; UQCR2
GeneCards (Weizmann)UQCRC2
Ensembl hg19 (Hinxton)ENSG00000140740 [Gene_View]  chr16:21964385-21994981 [Contig_View]  UQCRC2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000140740 [Gene_View]  chr16:21964385-21994981 [Contig_View]  UQCRC2 [Vega]
ICGC DataPortalENSG00000140740
TCGA cBioPortalUQCRC2
AceView (NCBI)UQCRC2
Genatlas (Paris)UQCRC2
WikiGenes7385
SOURCE (Princeton)UQCRC2
Genetics Home Reference (NIH)UQCRC2
Genomic and cartography
GoldenPath hg19 (UCSC)UQCRC2  -     chr16:21964385-21994981 +  16p12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)UQCRC2  -     16p12.2   [Description]    (hg38-Dec_2013)
EnsemblUQCRC2 - 16p12.2 [CytoView hg19]  UQCRC2 - 16p12.2 [CytoView hg38]
Mapping of homologs : NCBIUQCRC2 [Mapview hg19]  UQCRC2 [Mapview hg38]
OMIM191329   615160   
Gene and transcription
Genbank (Entrez)AK093106 AK094006 AK307535 BC000484 BC003136
RefSeq transcript (Entrez)NM_003366
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UQCRC2
Cluster EST : UnigeneHs.528803 [ NCBI ]
CGAP (NCI)Hs.528803
Alternative Splicing GalleryENSG00000140740
Gene ExpressionUQCRC2 [ NCBI-GEO ]   UQCRC2 [ EBI - ARRAY_EXPRESS ]   UQCRC2 [ SEEK ]   UQCRC2 [ MEM ]
Gene Expression Viewer (FireBrowse)UQCRC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7385
GTEX Portal (Tissue expression)UQCRC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22695   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22695  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22695
Splice isoforms : SwissVarP22695
PhosPhoSitePlusP22695
Domaine pattern : Prosite (Expaxy)INSULINASE (PS00143)   
Domains : Interpro (EBI)Metalloenz_LuxS/M16    Pept_M16_dom    Pept_M16_N    Pept_M16_Zn_BS    Peptidase_M16_C   
Domain families : Pfam (Sanger)Peptidase_M16 (PF00675)    Peptidase_M16_C (PF05193)   
Domain families : Pfam (NCBI)pfam00675    pfam05193   
Conserved Domain (NCBI)UQCRC2
DMDM Disease mutations7385
Blocks (Seattle)UQCRC2
SuperfamilyP22695
Human Protein AtlasENSG00000140740
Peptide AtlasP22695
HPRD01876
IPIIPI00305383   
Protein Interaction databases
DIP (DOE-UCLA)P22695
IntAct (EBI)P22695
FunCoupENSG00000140740
BioGRIDUQCRC2
STRING (EMBL)UQCRC2
ZODIACUQCRC2
Ontologies - Pathways
QuickGOP22695
Ontology : AmiGOmetalloendopeptidase activity  protein binding  nucleoplasm  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex III  oxidative phosphorylation  mitochondrial electron transport, ubiquinol to cytochrome c  mitochondrial electron transport, ubiquinol to cytochrome c  zinc ion binding  aerobic respiration  protein processing  protein complex binding  myelin sheath  extracellular exosome  
Ontology : EGO-EBImetalloendopeptidase activity  protein binding  nucleoplasm  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex III  oxidative phosphorylation  mitochondrial electron transport, ubiquinol to cytochrome c  mitochondrial electron transport, ubiquinol to cytochrome c  zinc ion binding  aerobic respiration  protein processing  protein complex binding  myelin sheath  extracellular exosome  
Pathways : KEGGOxidative phosphorylation    Cardiac muscle contraction    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkUQCRC2
Atlas of Cancer Signalling NetworkUQCRC2
Wikipedia pathwaysUQCRC2
Orthology - Evolution
OrthoDB7385
GeneTree (enSembl)ENSG00000140740
Phylogenetic Trees/Animal Genes : TreeFamUQCRC2
HOVERGENP22695
HOGENOMP22695
Homologs : HomoloGeneUQCRC2
Homology/Alignments : Family Browser (UCSC)UQCRC2
Gene fusions - Rearrangements
Fusion : MitelmanEEF2K/UQCRC2 [16p12.2/16p12.2]  [t(16;16)(p12;p12)]  
Fusion : MitelmanRFT1/UQCRC2 [3p21.1/16p12.2]  [t(3;16)(p21;p12)]  
Fusion: TCGAEEF2K 16p12.2 UQCRC2 16p12.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUQCRC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UQCRC2
dbVarUQCRC2
ClinVarUQCRC2
1000_GenomesUQCRC2 
Exome Variant ServerUQCRC2
ExAC (Exome Aggregation Consortium)UQCRC2 (select the gene name)
Genetic variants : HAPMAP7385
Genomic Variants (DGV)UQCRC2 [DGVbeta]
DECIPHER (Syndromes)16:21964385-21994981  ENSG00000140740
CONAN: Copy Number AnalysisUQCRC2 
Mutations
ICGC Data PortalUQCRC2 
TCGA Data PortalUQCRC2 
Broad Tumor PortalUQCRC2
OASIS PortalUQCRC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUQCRC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUQCRC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch UQCRC2
DgiDB (Drug Gene Interaction Database)UQCRC2
DoCM (Curated mutations)UQCRC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UQCRC2 (select a term)
intoGenUQCRC2
Cancer3DUQCRC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM191329    615160   
Orphanet3378   
MedgenUQCRC2
Genetic Testing Registry UQCRC2
NextProtP22695 [Medical]
TSGene7385
GENETestsUQCRC2
Huge Navigator UQCRC2 [HugePedia]
snp3D : Map Gene to Disease7385
BioCentury BCIQUQCRC2
ClinGenUQCRC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7385
Chemical/Pharm GKB GenePA37217
Clinical trialUQCRC2
Miscellaneous
canSAR (ICR)UQCRC2 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUQCRC2
EVEXUQCRC2
GoPubMedUQCRC2
iHOPUQCRC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jan 21 16:28:54 CET 2017

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