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Center for Computational Systems Medicine
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Gene Summary

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Translation studies in PubMed

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Exon Skipping Events

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Expression

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Expression Regulation

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Associated Genes

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Protein 3D Structure

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Protein-Protein Interaction

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Mutations

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Prognostic Analysis

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Gender Association

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Age Association

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Related Drugs

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Related Diseases

Translation Factor: UQCC2 (NCBI Gene ID:84300)


Gene Summary

check button Gene Summary
Gene InformationGene Name: UQCC2
Gene ID: 84300
Gene Symbol

UQCC2

Gene ID

84300

Gene Nameubiquinol-cytochrome c reductase complex assembly factor 2
SynonymsC6orf125|C6orf126|Cbp6|M19|MC3DN7|MNF1|bA6B20.2
Cytomap

6p21.31

Type of Geneprotein-coding
Descriptionubiquinol-cytochrome-c reductase complex assembly factor 2breast cancer-associated protein SGA-81Mcytochrome B protein synthesis 6 homologmitochondrial nucleoid factor 1mitochondrial protein M19
Modification date20200313
UniProtAcc

Q9BRT2


check button Child GO biological process term(s) under GO:0006412
GO IDGO term
GO:0006417Regulation of translation
GO:0032543Mitochondrial translation
GO:0045727Positive regulation of translation
GO:0006412Translation


check button Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneUQCC2

GO:0034551

mitochondrial respiratory chain complex III assembly

24385928

HgeneUQCC2

GO:0070131

positive regulation of mitochondrial translation

24385928



check button Inferred gene age of translation factor.
GeneInferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25
UQCC2(733 - 1119.25]


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Translation Studies in PubMed

check button We searched PubMed using 'UQCC2[title] AND translation [title] AND human.'
GeneTitlePMID
UQCC2..


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Exon Skipping Events

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.
all structure

check button Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ENSTExon skip start (DNA)Exon Skip end (DNA)ORF
ENST000006074843366822033668290Frame-shift
ENST000006074843366912233669197In-frame

check button Exon skipping position in the amino acid sequence.
ENSTExon skip start (DNA)Exon Skip end (DNA)Len(transcript seq)Exon skip start (mRNA)Exon Skip end (mRNA)Len(amino acid seq)Exon skip start (AA)Exon Skip end (AA)
ENST00000607484336691223366919713311802541264671

check button Potentially (partially) lost protein functional features of UniProt.
UniProtAccExon skip start (AA)Exon Skip end (AA)Function feature start (AA)Function feature end (AA)Functional feature typeFunctional feature desc.
Q9BRT2467114126ChainID=PRO_0000089526;Note=Ubiquinol-cytochrome-c reductase complex assembly factor 2


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Expression


check buttonGene expression level across TCGA pancancer
all structure

check buttonGene expression level across GTEx pantissue
all structure

check buttonExpression level of gene isoforms across TCGA pancancer
all structure

check buttonExpression level of gene isoforms across GTEx pantissue
all structure

check buttonCancer(tissue) type-specific expression level of Translation factor using z-score distriution

check buttonDifferential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)
Cancer typeTranslation factorFCadj.pval


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Expression Regulation


check buttonTranslation factor expression regulation through miRNA binding
Cancer typeGenemiRNATargetScan binding score (Context++ score percentile)CoefficientPvalue


check buttonTranslation factor expression regulation through methylation in the promoter of Translation factor
Cancer typeGenemethyl group bmethyl group aDEG pvalavg methyl in bavg methyl in aavg exp in bavg exp in a

check buttonTranslation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)
Cancer typeGenemethyl group bmethyl group aDEG pvalavg methyl in bavg methyl in aavg exp in bavg exp in a

check buttonTranslation factor expression regulation through copy number variation of Translation factor
Cancer typeGeneCoefficientPvalue

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Associated Genes


check button Strongly correlated genes belong to cellular important gene groups with UQCC2 (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)
Cancer typeGene groupTranslation factorCorrelated geneCoefficientPvalue


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Protein structure


check button Protein 3D structure
Visit iCn3D.


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Protein-Protein Interaction


check button Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))
all structure

check buttonOverlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))
all structure
check button
* Edge colors based on TCGA cancer types.

check button* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))
all structure
Cancer typeTranslation factorInteracting protein coding geneFCadj.pval
COADUQCC2UQCR11-1.379431622113590.0010443925857544
STADUQCC2UQCR11-2.206005052961980.00239070039242506
COADUQCC2TTC19-2.039554846747360.00390031933784485
KIRPUQCC2TTC19-1.070415412147840.00647870777174831
STADUQCC2UQCR10-2.022114941203390.018431528005749
CHOLUQCC2UQCR11-3.515642146650250.01953125
THCAUQCC2MRPS11-3.106947285409620.0252226935182201
CHOLUQCC2NDUFA2-4.833133599164340.0390625
BLCAUQCC2MRPS11-2.302769989682190.040130615234375
KICHUQCC2UQCR101.845358585283531.13248825073242e-06
BRCAUQCC2NDUFA2-1.230478160502491.4241275831312e-08
BRCAUQCC2MRPS11-1.243049779768042.31302509538916e-07
COADUQCC2ATP5D-1.903231518373042.69412994384766e-05
HNSCUQCC2TTC192.19879838336652.8792055672966e-07
HNSCUQCC2NDUFA22.859189692339353.78557160729543e-07
BRCAUQCC2UQCR10-1.203501660249924.10353388597336e-08
KIRCUQCC2TTC19-6.343126916113674.27932277731461e-12
LUSCUQCC2MRPS11-2.90040975414445.43966600483641e-07
KICHUQCC2UQCR111.24972419702156.55651092529297e-06
KICHUQCC2TTC19-4.468057985955128.16583633422851e-06
KICHUQCC2ATP5D1.374920728226238.34465026855468e-07


check button Protein-protein interactors with this translation factor (BIOGRID-3.4.160)
PPI interactors with UQCC2
CEACAM5, UQCC1, AURKA, CEP76, TUBGCP2, TUBGCP4, COX20, LPPR2, OXLD1, HSPB1, GRB2, RABGAP1L, TRUB2, C15orf48, NDUFA4, OCIAD1, CHCHD2, SBF1, TM2D2, YARS2, P3H1, YBEY, TMEM185A, CDR2, SLX1A, UHRF1BP1, TRIM25, PDK1, TPT1, TXN2, EXOC8, NRDE2, GNG13, CDKN2D, SNAP25, MRFAP1, MKRN3, ZNF765, TRAPPC2, TRAPPC2B, Plekhg2, ACAD9, PMPCA, ORF8a, C16orf91, CXCR4, S100P, MRPS18C,


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Mutations


check button Clinically associated variants from ClinVar.
GeneChrPositionRefSeqVarSeqRefSeeqVarTypePathogenicDiseaseVarInfo
UQCC2chr633665318GAsingle_nucleotide_variantBenignnot_providedSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
UQCC2chr633665414GAsingle_nucleotide_variantBenignnot_specifiedSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
UQCC2chr633665439AGsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
UQCC2chr633665458TCsingle_nucleotide_variantBenignnot_specified|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
UQCC2chr633665490CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
UQCC2chr633665625CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633665634CAGCDeletionLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633665654TCsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633665709GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633667965GTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633668038GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633668279GTsingle_nucleotide_variantBenign/Likely_benignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
UQCC2chr633668293GCsingle_nucleotide_variantPathogenicMitochondrial_complex_III_deficiency,_nuclear_type_7SO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633668300GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633668338CAsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633668370AGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633668514CTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633669348TCsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633669440CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633679061AGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633679066TCsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633679188GTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633679239CAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633679320GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
UQCC2chr633679341CTsingle_nucleotide_variantBenignnot_specified|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
UQCC2chr633679352CTsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
UQCC2chr633679389CGsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
UQCC2chr633679419TGsingle_nucleotide_variantLikely_benignnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
UQCC2chr633679427AGsingle_nucleotide_variantUncertain_significanceMitochondrial_complex_III_deficiency,_nuclear_type_7SO:0001583|missense_variantSO:0001583|missense_variant
UQCC2chr633679436GAsingle_nucleotide_variantSO:0001583|missense_variantSO:0001583|missense_variant
UQCC2chr633679441CGsingle_nucleotide_variantSO:0001583|missense_variantSO:0001583|missense_variant
UQCC2chr633679479TCsingle_nucleotide_variantLikely_benignnot_specified
UQCC2chr633679596ACsingle_nucleotide_variantBenignnot_provided
UQCC2chr633679607CGsingle_nucleotide_variantLikely_benignnot_provided
UQCC2chr633679799AGsingle_nucleotide_variantLikely_benignnot_provided
UQCC2chr633679807AGsingle_nucleotide_variantBenignnot_provided


check button nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.


check button SNVs and Indels
GeneCancer typeChromosomeStartEndRefSeeqMutSeqMutation typeAAchange# samples
UQCC2BLCAchr63366828433668284GAMissense_Mutationp.R74C1
UQCC2ESCAchr63366825333668253GAMissense_Mutationp.S84L1

check buttonCopy number variation (CNV) of UQCC2
* Click on the image to open the original image in a new window.
all structure

check buttonFusion gene breakpoints (product of the structural variants (SVs)) across UQCC2
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


check button Fusion genes with this translation factor from FusionGDB2.0.
FusionGDB2 IDDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
96972PCPGTCGA-RW-A686-01ABPHLchr63119081+UQCC2chr633665527-
96972STADTCGA-HU-8238-01APTPN23chr347437707+UQCC2chr633669197-
96972N/ABF219051UQCC2chr633665349-AGFG1chr2228362482-
96972N/ABF339173UQCC2chr633665345-CD276chr1573994037+
96972STADTCGA-BR-8077-01AUQCC2chr633665400-MLNchr633766998-
96972N/ABU607742UQCC2chr633665400+UQCC2chr633668274-


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Prognostic Analysis


check button Kaplan-Meier plots with logrank tests of overall survival (OS)
Cancer typeTranslation factorCoefficentHazard ratioWald test pvalLikelihool ratio pvalLogrank test pval# samples


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Translation factor and Gender


check button Differential gene expression between female and male. (Wilcoxon test, pval<0.05)
Cancer typeTranslation factorpvaladj.p

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Translation factor and Age


check button Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)
Cancer typeTranslation factorpvaladj.p

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Related Drugs


check button Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases


check button Diseases associated with this translation factor.
(DisGeNet 4.0)
Disease IDDisease Name# PubMedsDisease source
C4014408MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 71GENOMICS_ENGLAND