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NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2)

Identity

Alias_namesNDUFA12L
NDUFA12-like
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
Alias_symbol (synonym)B17.2L
MMTN
mimitin
Other aliasMC1DN10
HGNC (Hugo) NDUFAF2
LocusID (NCBI) 91942
Atlas_Id 45998
Location 5q12.1  [Link to chromosome band 5q12]
Location_base_pair Starts at 60945129 and ends at 61153037 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)
MAP3K1 (5q11.2) / NDUFAF2 (5q12.1)NDFIP1 (5q31.3) / NDUFAF2 (5q12.1)NDUFAF2 (5q12.1) / ANKRD31 (5q13.3)
NDUFAF2 (5q12.1) / MAST4 (5q12.3)NDUFAF2 (5q12.1) / NDUFAF2 (5q12.1)ZNF283 (19q13.31) / NDUFAF2 (5q12.1)
NDFIP1 5q31.3 / NDUFAF2 5q12.1NDUFAF2 5q12.1 / ANKRD31 5q13.3

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  NDUFAF2/MAST4 (5q12)
t(5;5)(q12;q13) NDUFAF2/ANKRD31
t(5;5)(q12;q31) NDFIP1/NDUFAF2

External links

Nomenclature
HGNC (Hugo)NDUFAF2   28086
Cards
Entrez_Gene (NCBI)NDUFAF2  91942  NADH:ubiquinone oxidoreductase complex assembly factor 2
AliasesB17.2L; MC1DN10; MMTN; NDUFA12L; 
mimitin
GeneCards (Weizmann)NDUFAF2
Ensembl hg19 (Hinxton)ENSG00000164182 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164182 [Gene_View]  ENSG00000164182 [Sequence]  chr5:60945129-61153037 [Contig_View]  NDUFAF2 [Vega]
ICGC DataPortalENSG00000164182
TCGA cBioPortalNDUFAF2
AceView (NCBI)NDUFAF2
Genatlas (Paris)NDUFAF2
WikiGenes91942
SOURCE (Princeton)NDUFAF2
Genetics Home Reference (NIH)NDUFAF2
Genomic and cartography
GoldenPath hg38 (UCSC)NDUFAF2  -     chr5:60945129-61153037 +  5q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NDUFAF2  -     5q12.1   [Description]    (hg19-Feb_2009)
GoldenPathNDUFAF2 - 5q12.1 [CytoView hg19]  NDUFAF2 - 5q12.1 [CytoView hg38]
ImmunoBaseENSG00000164182
Mapping of homologs : NCBINDUFAF2 [Mapview hg19]  NDUFAF2 [Mapview hg38]
OMIM609653   618233   
Gene and transcription
Genbank (Entrez)AB183433 AF087990 AI352161 AK026051 AK291296
RefSeq transcript (Entrez)NM_174889
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NDUFAF2
Cluster EST : UnigeneHs.591757 [ NCBI ]
CGAP (NCI)Hs.591757
Alternative Splicing GalleryENSG00000164182
Gene ExpressionNDUFAF2 [ NCBI-GEO ]   NDUFAF2 [ EBI - ARRAY_EXPRESS ]   NDUFAF2 [ SEEK ]   NDUFAF2 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFAF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)91942
GTEX Portal (Tissue expression)NDUFAF2
Human Protein AtlasENSG00000164182-NDUFAF2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N183   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N183  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N183
Splice isoforms : SwissVarQ8N183
PhosPhoSitePlusQ8N183
Domains : Interpro (EBI)NDUFA12   
Domain families : Pfam (Sanger)NDUFA12 (PF05071)   
Domain families : Pfam (NCBI)pfam05071   
Conserved Domain (NCBI)NDUFAF2
DMDM Disease mutations91942
Blocks (Seattle)NDUFAF2
SuperfamilyQ8N183
Human Protein Atlas [tissue]ENSG00000164182-NDUFAF2 [tissue]
Peptide AtlasQ8N183
HPRD14288
IPIIPI00031109   IPI00965446   IPI00964439   
Protein Interaction databases
DIP (DOE-UCLA)Q8N183
IntAct (EBI)Q8N183
FunCoupENSG00000164182
BioGRIDNDUFAF2
STRING (EMBL)NDUFAF2
ZODIACNDUFAF2
Ontologies - Pathways
QuickGOQ8N183
Ontology : AmiGOmitochondrion  mitochondrial inner membrane  NADH dehydrogenase (ubiquinone) activity  electron transfer activity  respiratory electron transport chain  mitochondrial respiratory chain complex I assembly  cellular respiration  negative regulation of insulin secretion involved in cellular response to glucose stimulus  reactive oxygen species metabolic process  
Ontology : EGO-EBImitochondrion  mitochondrial inner membrane  NADH dehydrogenase (ubiquinone) activity  electron transfer activity  respiratory electron transport chain  mitochondrial respiratory chain complex I assembly  cellular respiration  negative regulation of insulin secretion involved in cellular response to glucose stimulus  reactive oxygen species metabolic process  
NDEx NetworkNDUFAF2
Atlas of Cancer Signalling NetworkNDUFAF2
Wikipedia pathwaysNDUFAF2
Orthology - Evolution
OrthoDB91942
GeneTree (enSembl)ENSG00000164182
Phylogenetic Trees/Animal Genes : TreeFamNDUFAF2
HOGENOMQ8N183
Homologs : HomoloGeneNDUFAF2
Homology/Alignments : Family Browser (UCSC)NDUFAF2
Gene fusions - Rearrangements
Fusion : MitelmanNDFIP1/NDUFAF2 [5q31.3/5q12.1]  [t(5;5)(q12;q31)]  
Fusion : MitelmanNDUFAF2/ANKRD31 [5q12.1/5q13.3]  [t(5;5)(q12;q13)]  
Fusion : MitelmanNDUFAF2/MAST4 [5q12.1/5q12.3]  [t(5;5)(q12;q12)]  
Fusion PortalNDFIP1 5q31.3 NDUFAF2 5q12.1 BRCA
Fusion PortalNDUFAF2 5q12.1 ANKRD31 5q13.3 BRCA
Fusion : QuiverNDUFAF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFAF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFAF2
dbVarNDUFAF2
ClinVarNDUFAF2
1000_GenomesNDUFAF2 
Exome Variant ServerNDUFAF2
ExAC (Exome Aggregation Consortium)ENSG00000164182
GNOMAD BrowserENSG00000164182
Varsome BrowserNDUFAF2
Genetic variants : HAPMAP91942
Genomic Variants (DGV)NDUFAF2 [DGVbeta]
DECIPHERNDUFAF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNDUFAF2 
Mutations
ICGC Data PortalNDUFAF2 
TCGA Data PortalNDUFAF2 
Broad Tumor PortalNDUFAF2
OASIS PortalNDUFAF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFAF2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNDUFAF2
Mutations and Diseases : HGMDNDUFAF2
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 NDUFAF2
DgiDB (Drug Gene Interaction Database)NDUFAF2
DoCM (Curated mutations)NDUFAF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFAF2 (select a term)
intoGenNDUFAF2
Cancer3DNDUFAF2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609653    618233   
Orphanet369    19814   
DisGeNETNDUFAF2
MedgenNDUFAF2
Genetic Testing Registry NDUFAF2
NextProtQ8N183 [Medical]
TSGene91942
GENETestsNDUFAF2
Target ValidationNDUFAF2
Huge Navigator NDUFAF2 [HugePedia]
snp3D : Map Gene to Disease91942
BioCentury BCIQNDUFAF2
ClinGenNDUFAF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD91942
Chemical/Pharm GKB GenePA162397398
Clinical trialNDUFAF2
Miscellaneous
canSAR (ICR)NDUFAF2 (select the gene name)
DataMed IndexNDUFAF2
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFAF2
EVEXNDUFAF2
GoPubMedNDUFAF2
iHOPNDUFAF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:57:36 CET 2019
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