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NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4)

Identity

Alias_namesNADH dehydrogenase (ubiquinone) Fe-S protein 4 (18kD) (NADH-coenzyme Q reductase)
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
Alias_symbol (synonym)AQDQ
CI-18
Other aliasCI-18 kDa
CI-AQDQ
MC1DN1
HGNC (Hugo) NDUFS4
LocusID (NCBI) 4724
Atlas_Id 52822
Location 5q11.2  [Link to chromosome band 5q11]
Location_base_pair Starts at 53560633 and ends at 53683341 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)
NDUFS4 (5q11.2) / EXTL3 (8p21.1)NDUFS4 (5q11.2) / RTN3 (11q13.1)NDUFS4 (5q11.2) / UBE2D2 (5q31.2)
ZSWIM4 (19p13.13) / NDUFS4 (5q11.2)NDUFS4 5q11.2 / EXTL3 8p21.1NDUFS4 5q11.2 / UBE2D2 5q31.2

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(5;5)(q11;q31) NDUFS4/UBE2D2
t(5;8)(q11;p21) NDUFS4/EXTL3


External links

Nomenclature
HGNC (Hugo)NDUFS4   7711
Cards
Entrez_Gene (NCBI)NDUFS4  4724  NADH:ubiquinone oxidoreductase subunit S4
AliasesAQDQ; CI-18; CI-18; CI-AQDQ; 
MC1DN1
GeneCards (Weizmann)NDUFS4
Ensembl hg19 (Hinxton)ENSG00000164258 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164258 [Gene_View]  ENSG00000164258 [Sequence]  chr5:53560633-53683341 [Contig_View]  NDUFS4 [Vega]
ICGC DataPortalENSG00000164258
TCGA cBioPortalNDUFS4
AceView (NCBI)NDUFS4
Genatlas (Paris)NDUFS4
WikiGenes4724
SOURCE (Princeton)NDUFS4
Genetics Home Reference (NIH)NDUFS4
Genomic and cartography
GoldenPath hg38 (UCSC)NDUFS4  -     chr5:53560633-53683341 +  5q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NDUFS4  -     5q11.2   [Description]    (hg19-Feb_2009)
EnsemblNDUFS4 - 5q11.2 [CytoView hg19]  NDUFS4 - 5q11.2 [CytoView hg38]
Mapping of homologs : NCBINDUFS4 [Mapview hg19]  NDUFS4 [Mapview hg38]
OMIM252010   602694   
Gene and transcription
Genbank (Entrez)AF020351 AI001139 AK307973 BC005270 BU145342
RefSeq transcript (Entrez)NM_001318051 NM_002495
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NDUFS4
Cluster EST : UnigeneHs.528222 [ NCBI ]
CGAP (NCI)Hs.528222
Alternative Splicing GalleryENSG00000164258
Gene ExpressionNDUFS4 [ NCBI-GEO ]   NDUFS4 [ EBI - ARRAY_EXPRESS ]   NDUFS4 [ SEEK ]   NDUFS4 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFS4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4724
GTEX Portal (Tissue expression)NDUFS4
Human Protein AtlasENSG00000164258-NDUFS4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43181   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43181  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43181
Splice isoforms : SwissVarO43181
PhosPhoSitePlusO43181
Domains : Interpro (EBI)NADH_UbQ_FeS_4_mit    NDUFS4-like_sf   
Domain families : Pfam (Sanger)ETC_C1_NDUFA4 (PF04800)   
Domain families : Pfam (NCBI)pfam04800   
Conserved Domain (NCBI)NDUFS4
DMDM Disease mutations4724
Blocks (Seattle)NDUFS4
PDB (SRS)5XTB    5XTD    5XTH    5XTI   
PDB (PDBSum)5XTB    5XTD    5XTH    5XTI   
PDB (IMB)5XTB    5XTD    5XTH    5XTI   
PDB (RSDB)5XTB    5XTD    5XTH    5XTI   
Structural Biology KnowledgeBase5XTB    5XTD    5XTH    5XTI   
SCOP (Structural Classification of Proteins)5XTB    5XTD    5XTH    5XTI   
CATH (Classification of proteins structures)5XTB    5XTD    5XTH    5XTI   
SuperfamilyO43181
Human Protein Atlas [tissue]ENSG00000164258-NDUFS4 [tissue]
Peptide AtlasO43181
HPRD04073
IPIIPI00011217   IPI00967290   IPI00966677   IPI00966407   IPI00964788   
Protein Interaction databases
DIP (DOE-UCLA)O43181
IntAct (EBI)O43181
FunCoupENSG00000164258
BioGRIDNDUFS4
STRING (EMBL)NDUFS4
ZODIACNDUFS4
Ontologies - Pathways
QuickGOO43181
Ontology : AmiGOregulation of protein phosphorylation  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  brain development  NADH dehydrogenase (ubiquinone) activity  NADH dehydrogenase (ubiquinone) activity  NADH dehydrogenase (ubiquinone) activity  cAMP-mediated signaling  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex I assembly  cellular respiration  positive regulation of fibroblast proliferation  response to cAMP  reactive oxygen species metabolic process  
Ontology : EGO-EBIregulation of protein phosphorylation  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  brain development  NADH dehydrogenase (ubiquinone) activity  NADH dehydrogenase (ubiquinone) activity  NADH dehydrogenase (ubiquinone) activity  cAMP-mediated signaling  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex I assembly  cellular respiration  positive regulation of fibroblast proliferation  response to cAMP  reactive oxygen species metabolic process  
Pathways : KEGGOxidative phosphorylation    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkNDUFS4
Atlas of Cancer Signalling NetworkNDUFS4
Wikipedia pathwaysNDUFS4
Orthology - Evolution
OrthoDB4724
GeneTree (enSembl)ENSG00000164258
Phylogenetic Trees/Animal Genes : TreeFamNDUFS4
HOGENOMO43181
Homologs : HomoloGeneNDUFS4
Homology/Alignments : Family Browser (UCSC)NDUFS4
Gene fusions - Rearrangements
Fusion : MitelmanNDUFS4/EXTL3 [5q11.2/8p21.1]  
Fusion : MitelmanNDUFS4/UBE2D2 [5q11.2/5q31.2]  [t(5;5)(q11;q31)]  
Fusion PortalNDUFS4 5q11.2 EXTL3 8p21.1 LUSC
Fusion PortalNDUFS4 5q11.2 UBE2D2 5q31.2 LUAD
Fusion : QuiverNDUFS4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFS4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFS4
dbVarNDUFS4
ClinVarNDUFS4
1000_GenomesNDUFS4 
Exome Variant ServerNDUFS4
ExAC (Exome Aggregation Consortium)ENSG00000164258
GNOMAD BrowserENSG00000164258
Varsome BrowserNDUFS4
Genetic variants : HAPMAP4724
Genomic Variants (DGV)NDUFS4 [DGVbeta]
DECIPHERNDUFS4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNDUFS4 
Mutations
ICGC Data PortalNDUFS4 
TCGA Data PortalNDUFS4 
Broad Tumor PortalNDUFS4
OASIS PortalNDUFS4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFS4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDUFS4
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 NDUFS4
DgiDB (Drug Gene Interaction Database)NDUFS4
DoCM (Curated mutations)NDUFS4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFS4 (select a term)
intoGenNDUFS4
Cancer3DNDUFS4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM252010    602694   
Orphanet369    19814   
DisGeNETNDUFS4
MedgenNDUFS4
Genetic Testing Registry NDUFS4
NextProtO43181 [Medical]
TSGene4724
GENETestsNDUFS4
Target ValidationNDUFS4
Huge Navigator NDUFS4 [HugePedia]
snp3D : Map Gene to Disease4724
BioCentury BCIQNDUFS4
ClinGenNDUFS4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4724
Chemical/Pharm GKB GenePA31521
Clinical trialNDUFS4
Miscellaneous
canSAR (ICR)NDUFS4 (select the gene name)
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFS4
EVEXNDUFS4
GoPubMedNDUFS4
iHOPNDUFS4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Dec 21 15:38:30 CET 2018

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