Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2)

Identity

Alias_namesNADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
Alias_symbol (synonym)CI-24k
Other alias
HGNC (Hugo) NDUFV2
LocusID (NCBI) 4729
Atlas_Id 70788
Location 18p11.22  [Link to chromosome band 18p11]
Location_base_pair Starts at 9102630 and ends at 9134345 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)
NDUFV2 (18p11.22) / CHST9 (18q11.2)SPAG17 (1p12) / NDUFV2 (18p11.22)

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)NDUFV2   7717
Cards
Entrez_Gene (NCBI)NDUFV2  4729  NADH:ubiquinone oxidoreductase core subunit V2
AliasesCI-24k
GeneCards (Weizmann)NDUFV2
Ensembl hg19 (Hinxton)ENSG00000178127 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178127 [Gene_View]  chr18:9102630-9134345 [Contig_View]  NDUFV2 [Vega]
ICGC DataPortalENSG00000178127
TCGA cBioPortalNDUFV2
AceView (NCBI)NDUFV2
Genatlas (Paris)NDUFV2
WikiGenes4729
SOURCE (Princeton)NDUFV2
Genetics Home Reference (NIH)NDUFV2
Genomic and cartography
GoldenPath hg38 (UCSC)NDUFV2  -     chr18:9102630-9134345 +  18p11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NDUFV2  -     18p11.22   [Description]    (hg19-Feb_2009)
EnsemblNDUFV2 - 18p11.22 [CytoView hg19]  NDUFV2 - 18p11.22 [CytoView hg38]
Mapping of homologs : NCBINDUFV2 [Mapview hg19]  NDUFV2 [Mapview hg38]
OMIM252010   600532   
Gene and transcription
Genbank (Entrez)AF147367 AK291865 AK312129 AW051350 BC001632
RefSeq transcript (Entrez)NM_021074
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NDUFV2
Cluster EST : UnigeneHs.464572 [ NCBI ]
CGAP (NCI)Hs.464572
Alternative Splicing GalleryENSG00000178127
Gene ExpressionNDUFV2 [ NCBI-GEO ]   NDUFV2 [ EBI - ARRAY_EXPRESS ]   NDUFV2 [ SEEK ]   NDUFV2 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFV2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4729
GTEX Portal (Tissue expression)NDUFV2
Human Protein AtlasENSG00000178127-NDUFV2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19404   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP19404  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP19404
Splice isoforms : SwissVarP19404
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 ]   
PhosPhoSitePlusP19404
Domaine pattern : Prosite (Expaxy)COMPLEX1_24K (PS01099)   
Domains : Interpro (EBI)NuoE-like    Thioredoxin-like_fold   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)NDUFV2
DMDM Disease mutations4729
Blocks (Seattle)NDUFV2
SuperfamilyP19404
Human Protein Atlas [tissue]ENSG00000178127-NDUFV2 [tissue]
Peptide AtlasP19404
HPRD02757
IPIIPI00291328   IPI00646556   
Protein Interaction databases
DIP (DOE-UCLA)P19404
IntAct (EBI)P19404
FunCoupENSG00000178127
BioGRIDNDUFV2
STRING (EMBL)NDUFV2
ZODIACNDUFV2
Ontologies - Pathways
QuickGOP19404
Ontology : AmiGOmitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  nervous system development  NADH dehydrogenase (ubiquinone) activity  NADH dehydrogenase (ubiquinone) activity  electron carrier activity  mitochondrial respiratory chain complex I assembly  myelin sheath  plasma membrane respiratory chain complex I  metal ion binding  cardiac muscle tissue development  2 iron, 2 sulfur cluster binding  
Ontology : EGO-EBImitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  nervous system development  NADH dehydrogenase (ubiquinone) activity  NADH dehydrogenase (ubiquinone) activity  electron carrier activity  mitochondrial respiratory chain complex I assembly  myelin sheath  plasma membrane respiratory chain complex I  metal ion binding  cardiac muscle tissue development  2 iron, 2 sulfur cluster binding  
Pathways : KEGGOxidative phosphorylation    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkNDUFV2
Atlas of Cancer Signalling NetworkNDUFV2
Wikipedia pathwaysNDUFV2
Orthology - Evolution
OrthoDB4729
GeneTree (enSembl)ENSG00000178127
Phylogenetic Trees/Animal Genes : TreeFamNDUFV2
HOVERGENP19404
HOGENOMP19404
Homologs : HomoloGeneNDUFV2
Homology/Alignments : Family Browser (UCSC)NDUFV2
Gene fusions - Rearrangements
Tumor Fusion PortalNDUFV2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFV2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFV2
dbVarNDUFV2
ClinVarNDUFV2
1000_GenomesNDUFV2 
Exome Variant ServerNDUFV2
ExAC (Exome Aggregation Consortium)ENSG00000178127
GNOMAD BrowserENSG00000178127
Genetic variants : HAPMAP4729
Genomic Variants (DGV)NDUFV2 [DGVbeta]
DECIPHERNDUFV2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNDUFV2 
Mutations
ICGC Data PortalNDUFV2 
TCGA Data PortalNDUFV2 
Broad Tumor PortalNDUFV2
OASIS PortalNDUFV2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFV2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDUFV2
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 NDUFV2
DgiDB (Drug Gene Interaction Database)NDUFV2
DoCM (Curated mutations)NDUFV2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFV2 (select a term)
intoGenNDUFV2
Cancer3DNDUFV2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM252010    600532   
Orphanet369    19814   
DisGeNETNDUFV2
MedgenNDUFV2
Genetic Testing Registry NDUFV2
NextProtP19404 [Medical]
TSGene4729
GENETestsNDUFV2
Target ValidationNDUFV2
Huge Navigator NDUFV2 [HugePedia]
snp3D : Map Gene to Disease4729
BioCentury BCIQNDUFV2
ClinGenNDUFV2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4729
Chemical/Pharm GKB GenePA31527
Clinical trialNDUFV2
Miscellaneous
canSAR (ICR)NDUFV2 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFV2
EVEXNDUFV2
GoPubMedNDUFV2
iHOPNDUFV2
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 : Tue Nov 21 13:37:51 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.