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NDUFA2 (NADH:ubiquinone oxidoreductase subunit A2)

Identity

Alias_namesNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (8kD, B8)
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
Alias_symbol (synonym)B8
Other aliasCD14
CIB8
HGNC (Hugo) NDUFA2
LocusID (NCBI) 4695
Atlas_Id 70754
Location 5q31.3  [Link to chromosome band 5q31]
Location_base_pair Starts at 140645363 and ends at 140647785 bp from pter ( according to hg38-Dec_2013)

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)NDUFA2   7685
Cards
Entrez_Gene (NCBI)NDUFA2  4695  NADH:ubiquinone oxidoreductase subunit A2
AliasesB8; CD14; CIB8
GeneCards (Weizmann)NDUFA2
Ensembl hg19 (Hinxton)ENSG00000131495 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131495 [Gene_View]  chr5:140645363-140647785 [Contig_View]  NDUFA2 [Vega]
ICGC DataPortalENSG00000131495
TCGA cBioPortalNDUFA2
AceView (NCBI)NDUFA2
Genatlas (Paris)NDUFA2
WikiGenes4695
SOURCE (Princeton)NDUFA2
Genetics Home Reference (NIH)NDUFA2
Genomic and cartography
GoldenPath hg38 (UCSC)NDUFA2  -     chr5:140645363-140647785 -  5q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NDUFA2  -     5q31.3   [Description]    (hg19-Feb_2009)
EnsemblNDUFA2 - 5q31.3 [CytoView hg19]  NDUFA2 - 5q31.3 [CytoView hg38]
Mapping of homologs : NCBINDUFA2 [Mapview hg19]  NDUFA2 [Mapview hg38]
OMIM256000   602137   
Gene and transcription
Genbank (Entrez)AA993683 AF047185 AF077029 BC003674 BM706616
RefSeq transcript (Entrez)NM_001185012 NM_002488
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NDUFA2
Cluster EST : UnigeneHs.75914 [ NCBI ]
CGAP (NCI)Hs.75914
Alternative Splicing GalleryENSG00000131495
Gene ExpressionNDUFA2 [ NCBI-GEO ]   NDUFA2 [ EBI - ARRAY_EXPRESS ]   NDUFA2 [ SEEK ]   NDUFA2 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4695
GTEX Portal (Tissue expression)NDUFA2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43678   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43678  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43678
Splice isoforms : SwissVarO43678
PhosPhoSitePlusO43678
Domains : Interpro (EBI)NADH_Ub_cplx-1_asu_su-2    Ribosome/NADH_DH    Thioredoxin-like_fold   
Domain families : Pfam (Sanger)L51_S25_CI-B8 (PF05047)   
Domain families : Pfam (NCBI)pfam05047   
Domain families : Smart (EMBL)L51_S25_CI-B8 (SM00916)  
Conserved Domain (NCBI)NDUFA2
DMDM Disease mutations4695
Blocks (Seattle)NDUFA2
PDB (SRS)1S3A   
PDB (PDBSum)1S3A   
PDB (IMB)1S3A   
PDB (RSDB)1S3A   
Structural Biology KnowledgeBase1S3A   
SCOP (Structural Classification of Proteins)1S3A   
CATH (Classification of proteins structures)1S3A   
SuperfamilyO43678
Human Protein AtlasENSG00000131495
Peptide AtlasO43678
HPRD11883
IPIIPI00219381   IPI00966526   
Protein Interaction databases
DIP (DOE-UCLA)O43678
IntAct (EBI)O43678
FunCoupENSG00000131495
BioGRIDNDUFA2
STRING (EMBL)NDUFA2
ZODIACNDUFA2
Ontologies - Pathways
QuickGOO43678
Ontology : AmiGOmitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  NADH dehydrogenase (ubiquinone) activity  mitochondrial membrane  mitochondrial respiratory chain complex I assembly  
Ontology : EGO-EBImitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  NADH dehydrogenase (ubiquinone) activity  mitochondrial membrane  mitochondrial respiratory chain complex I assembly  
Pathways : KEGGOxidative phosphorylation    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkNDUFA2
Atlas of Cancer Signalling NetworkNDUFA2
Wikipedia pathwaysNDUFA2
Orthology - Evolution
OrthoDB4695
GeneTree (enSembl)ENSG00000131495
Phylogenetic Trees/Animal Genes : TreeFamNDUFA2
HOVERGENO43678
HOGENOMO43678
Homologs : HomoloGeneNDUFA2
Homology/Alignments : Family Browser (UCSC)NDUFA2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFA2
dbVarNDUFA2
ClinVarNDUFA2
1000_GenomesNDUFA2 
Exome Variant ServerNDUFA2
ExAC (Exome Aggregation Consortium)NDUFA2 (select the gene name)
Genetic variants : HAPMAP4695
Genomic Variants (DGV)NDUFA2 [DGVbeta]
DECIPHERNDUFA2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNDUFA2 
Mutations
ICGC Data PortalNDUFA2 
TCGA Data PortalNDUFA2 
Broad Tumor PortalNDUFA2
OASIS PortalNDUFA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFA2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDUFA2
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 NDUFA2
DgiDB (Drug Gene Interaction Database)NDUFA2
DoCM (Curated mutations)NDUFA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFA2 (select a term)
intoGenNDUFA2
Cancer3DNDUFA2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM256000    602137   
Orphanet19814   
MedgenNDUFA2
Genetic Testing Registry NDUFA2
NextProtO43678 [Medical]
TSGene4695
GENETestsNDUFA2
Target ValidationNDUFA2
Huge Navigator NDUFA2 [HugePedia]
snp3D : Map Gene to Disease4695
BioCentury BCIQNDUFA2
ClinGenNDUFA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4695
Chemical/Pharm GKB GenePA31491
Clinical trialNDUFA2
Miscellaneous
canSAR (ICR)NDUFA2 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFA2
EVEXNDUFA2
GoPubMedNDUFA2
iHOPNDUFA2
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 13:31:51 CEST 2017

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