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NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2)

Identity

Alias_namesNADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
Alias_symbol (synonym)CI-49
Other alias
HGNC (Hugo) NDUFS2
LocusID (NCBI) 4720
Atlas_Id 70783
Location 1q23.3  [Link to chromosome band 1q23]
Location_base_pair Starts at 161202147 and ends at 161214394 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HDAC8 (Xq13.1) / NDUFS2 (1q23.3)NDUFS2 (1q23.3) / ATP1A3 (19q13.2)NDUFS2 (1q23.3) / RNF167 (17p13.2)
PCP4L1 (1q23.3) / NDUFS2 (1q23.3)PRKCDBP (11p15.4) / NDUFS2 (1q23.3)SDHC (1q23.3) / NDUFS2 (1q23.3)
SLC23A2 (20p13) / NDUFS2 (1q23.3)

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)NDUFS2   7708
Cards
Entrez_Gene (NCBI)NDUFS2  4720  NADH:ubiquinone oxidoreductase core subunit S2
AliasesCI-49
GeneCards (Weizmann)NDUFS2
Ensembl hg19 (Hinxton)ENSG00000158864 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158864 [Gene_View]  chr1:161202147-161214394 [Contig_View]  NDUFS2 [Vega]
ICGC DataPortalENSG00000158864
TCGA cBioPortalNDUFS2
AceView (NCBI)NDUFS2
Genatlas (Paris)NDUFS2
WikiGenes4720
SOURCE (Princeton)NDUFS2
Genetics Home Reference (NIH)NDUFS2
Genomic and cartography
GoldenPath hg38 (UCSC)NDUFS2  -     chr1:161202147-161214394 +  1q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NDUFS2  -     1q23.3   [Description]    (hg19-Feb_2009)
EnsemblNDUFS2 - 1q23.3 [CytoView hg19]  NDUFS2 - 1q23.3 [CytoView hg38]
Mapping of homologs : NCBINDUFS2 [Mapview hg19]  NDUFS2 [Mapview hg38]
OMIM252010   602985   
Gene and transcription
Genbank (Entrez)AF013160 AF050640 AK222618 AK301641 AK309871
RefSeq transcript (Entrez)NM_001166159 NM_004550
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NDUFS2
Cluster EST : UnigeneHs.173611 [ NCBI ]
CGAP (NCI)Hs.173611
Alternative Splicing GalleryENSG00000158864
Gene ExpressionNDUFS2 [ NCBI-GEO ]   NDUFS2 [ EBI - ARRAY_EXPRESS ]   NDUFS2 [ SEEK ]   NDUFS2 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4720
GTEX Portal (Tissue expression)NDUFS2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75306   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75306  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75306
Splice isoforms : SwissVarO75306
Catalytic activity : Enzyme1.6.5.3 [ Enzyme-Expasy ]   1.6.5.31.6.5.3 [ IntEnz-EBI ]   1.6.5.3 [ BRENDA ]   1.6.5.3 [ KEGG ]   
PhosPhoSitePlusO75306
Domaine pattern : Prosite (Expaxy)COMPLEX1_49K (PS00535)   
Domains : Interpro (EBI)NADH_Q_OxRdtase_suD    NADH_UbQ_OxRdtase_49kDa_CS    NDH1_su_D/H    NiFe_Hase-like   
Domain families : Pfam (Sanger)Complex1_49kDa (PF00346)   
Domain families : Pfam (NCBI)pfam00346   
Conserved Domain (NCBI)NDUFS2
DMDM Disease mutations4720
Blocks (Seattle)NDUFS2
SuperfamilyO75306
Human Protein AtlasENSG00000158864
Peptide AtlasO75306
HPRD04285
IPIIPI00025239   IPI01014460   IPI01013308   IPI00946334   
Protein Interaction databases
DIP (DOE-UCLA)O75306
IntAct (EBI)O75306
FunCoupENSG00000158864
BioGRIDNDUFS2
STRING (EMBL)NDUFS2
ZODIACNDUFS2
Ontologies - Pathways
QuickGOO75306
Ontology : AmiGONADH dehydrogenase activity  protein binding  nucleoplasm  mitochondrion  mitochondrion  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial matrix  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  response to oxidative stress  NADH dehydrogenase (ubiquinone) activity  electron carrier activity  ubiquitin protein ligase binding  mitochondrial respiratory chain complex I assembly  mitochondrial ATP synthesis coupled electron transport  metal ion binding  quinone binding  NAD binding  4 iron, 4 sulfur cluster binding  
Ontology : EGO-EBINADH dehydrogenase activity  protein binding  nucleoplasm  mitochondrion  mitochondrion  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial matrix  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  response to oxidative stress  NADH dehydrogenase (ubiquinone) activity  electron carrier activity  ubiquitin protein ligase binding  mitochondrial respiratory chain complex I assembly  mitochondrial ATP synthesis coupled electron transport  metal ion binding  quinone binding  NAD binding  4 iron, 4 sulfur cluster binding  
Pathways : KEGGOxidative phosphorylation    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkNDUFS2
Atlas of Cancer Signalling NetworkNDUFS2
Wikipedia pathwaysNDUFS2
Orthology - Evolution
OrthoDB4720
GeneTree (enSembl)ENSG00000158864
Phylogenetic Trees/Animal Genes : TreeFamNDUFS2
HOVERGENO75306
HOGENOMO75306
Homologs : HomoloGeneNDUFS2
Homology/Alignments : Family Browser (UCSC)NDUFS2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFS2
dbVarNDUFS2
ClinVarNDUFS2
1000_GenomesNDUFS2 
Exome Variant ServerNDUFS2
ExAC (Exome Aggregation Consortium)NDUFS2 (select the gene name)
Genetic variants : HAPMAP4720
Genomic Variants (DGV)NDUFS2 [DGVbeta]
DECIPHERNDUFS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNDUFS2 
Mutations
ICGC Data PortalNDUFS2 
TCGA Data PortalNDUFS2 
Broad Tumor PortalNDUFS2
OASIS PortalNDUFS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDUFS2
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 NDUFS2
DgiDB (Drug Gene Interaction Database)NDUFS2
DoCM (Curated mutations)NDUFS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFS2 (select a term)
intoGenNDUFS2
Cancer3DNDUFS2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM252010    602985   
Orphanet369    19814    10947   
MedgenNDUFS2
Genetic Testing Registry NDUFS2
NextProtO75306 [Medical]
TSGene4720
GENETestsNDUFS2
Target ValidationNDUFS2
Huge Navigator NDUFS2 [HugePedia]
snp3D : Map Gene to Disease4720
BioCentury BCIQNDUFS2
ClinGenNDUFS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4720
Chemical/Pharm GKB GenePA31519
Clinical trialNDUFS2
Miscellaneous
canSAR (ICR)NDUFS2 (select the gene name)
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFS2
EVEXNDUFS2
GoPubMedNDUFS2
iHOPNDUFS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:31:55 CEST 2017

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