Atlas of Genetics and Cytogenetics in Oncology and Haematology


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UQCC2 (ubiquinol-cytochrome c reductase complex assembly factor 2)

Identity

Alias (NCBI)C6orf125
C6orf126
Cbp6
M19
MC3DN7
MNF1
bA6B20.2
HGNC (Hugo) UQCC2
HGNC Alias symbMGC14833
bA6B20.2
M19
Cbp6
HGNC Alias namecytochrome B protein synthesis 6 homolog (S. cerevisiae)
HGNC Previous nameC6orf125
 MNF1
HGNC Previous namechromosome 6 open reading frame 125
 mitochondrial nucleoid factor 1
LocusID (NCBI) 84300
Atlas_Id 75501
Location 6p21.31  [Link to chromosome band 6p21]
Location_base_pair Starts at 33696761 and ends at 33711751 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)UQCC2   21237
Cards
Entrez_Gene (NCBI)UQCC2    ubiquinol-cytochrome c reductase complex assembly factor 2
AliasesC6orf125; C6orf126; Cbp6; M19; 
MC3DN7; MNF1; bA6B20.2
GeneCards (Weizmann)UQCC2
Ensembl hg19 (Hinxton)ENSG00000137288 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137288 [Gene_View]  ENSG00000137288 [Sequence]  chr6:33696761-33711751 [Contig_View]  UQCC2 [Vega]
ICGC DataPortalENSG00000137288
TCGA cBioPortalUQCC2
AceView (NCBI)UQCC2
Genatlas (Paris)UQCC2
SOURCE (Princeton)UQCC2
Genetics Home Reference (NIH)UQCC2
Genomic and cartography
GoldenPath hg38 (UCSC)UQCC2  -     chr6:33696761-33711751 -  6p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UQCC2  -     6p21.31   [Description]    (hg19-Feb_2009)
GoldenPathUQCC2 - 6p21.31 [CytoView hg19]  UQCC2 - 6p21.31 [CytoView hg38]
ImmunoBaseENSG00000137288
genome Data Viewer NCBIUQCC2 [Mapview hg19]  
OMIM614461   615824   
Gene and transcription
Genbank (Entrez)AF086234 AI688269 AK127468 AK311835 AY568085
RefSeq transcript (Entrez)NM_032340
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UQCC2
Alternative Splicing GalleryENSG00000137288
Gene ExpressionUQCC2 [ NCBI-GEO ]   UQCC2 [ EBI - ARRAY_EXPRESS ]   UQCC2 [ SEEK ]   UQCC2 [ MEM ]
Gene Expression Viewer (FireBrowse)UQCC2 [ Firebrowse - Broad ]
GenevisibleExpression of UQCC2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84300
GTEX Portal (Tissue expression)UQCC2
Human Protein AtlasENSG00000137288-UQCC2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BRT2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BRT2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BRT2
Splice isoforms : SwissVarQ9BRT2
PhosPhoSitePlusQ9BRT2
Domains : Interpro (EBI)UQCC2   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)UQCC2
Blocks (Seattle)UQCC2
SuperfamilyQ9BRT2
Human Protein Atlas [tissue]ENSG00000137288-UQCC2 [tissue]
Peptide AtlasQ9BRT2
HPRD12847
IPIIPI00031617   IPI00514293   
Protein Interaction databases
DIP (DOE-UCLA)Q9BRT2
IntAct (EBI)Q9BRT2
BioGRIDUQCC2
STRING (EMBL)UQCC2
ZODIACUQCC2
Ontologies - Pathways
QuickGOQ9BRT2
Ontology : AmiGOregulation of oxidative phosphorylation  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial intermembrane space  mitochondrial matrix  nuclear body  mitochondrial respiratory chain complex III assembly  mitochondrial nucleoid  regulation of insulin secretion  positive regulation of mitochondrial translation  positive regulation of cellular protein catabolic process  regulation of skeletal muscle cell differentiation  
Ontology : EGO-EBIregulation of oxidative phosphorylation  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial intermembrane space  mitochondrial matrix  nuclear body  mitochondrial respiratory chain complex III assembly  mitochondrial nucleoid  regulation of insulin secretion  positive regulation of mitochondrial translation  positive regulation of cellular protein catabolic process  regulation of skeletal muscle cell differentiation  
NDEx NetworkUQCC2
Atlas of Cancer Signalling NetworkUQCC2
Wikipedia pathwaysUQCC2
Orthology - Evolution
OrthoDB84300
GeneTree (enSembl)ENSG00000137288
Phylogenetic Trees/Animal Genes : TreeFamUQCC2
HOGENOMQ9BRT2
Homologs : HomoloGeneUQCC2
Homology/Alignments : Family Browser (UCSC)UQCC2
Gene fusions - Rearrangements
Fusion : QuiverUQCC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUQCC2 [hg38]
dbVarUQCC2
ClinVarUQCC2
MonarchUQCC2
1000_GenomesUQCC2 
Exome Variant ServerUQCC2
GNOMAD BrowserENSG00000137288
Varsome BrowserUQCC2
Genomic Variants (DGV)UQCC2 [DGVbeta]
DECIPHERUQCC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUQCC2 
Mutations
ICGC Data PortalUQCC2 
TCGA Data PortalUQCC2 
Broad Tumor PortalUQCC2
OASIS PortalUQCC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUQCC2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUQCC2
Mutations and Diseases : HGMDUQCC2
BioMutasearch UQCC2
DgiDB (Drug Gene Interaction Database)UQCC2
DoCM (Curated mutations)UQCC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UQCC2 (select a term)
intoGenUQCC2
Cancer3DUQCC2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614461    615824   
Orphanet3378   
DisGeNETUQCC2
MedgenUQCC2
Genetic Testing Registry UQCC2
NextProtQ9BRT2 [Medical]
GENETestsUQCC2
Target ValidationUQCC2
Huge Navigator UQCC2 [HugePedia]
ClinGenUQCC2
Clinical trials, drugs, therapy
MyCancerGenomeUQCC2
Protein Interactions : CTD
Pharm GKB GenePA134970806
Clinical trialUQCC2
Miscellaneous
canSAR (ICR)UQCC2 (select the gene name)
HarmonizomeUQCC2
DataMed IndexUQCC2
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUQCC2
EVEXUQCC2
GoPubMedUQCC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 17:34:14 CET 2020

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