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

NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2)

Identity

Alias (NCBI)B17.2L
MC1DN10
MMTN
NDUFA12L
mimitin
HGNC (Hugo) NDUFAF2
HGNC Alias symbB17.2L
MMTN
mimitin
HGNC Alias nameMyc-induced mitochondrial protein
HGNC Previous nameNDUFA12L
HGNC Previous nameNDUFA12-like
 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2
 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
LocusID (NCBI) 91942
Atlas_Id 45998
Location 5q12.1  [Link to chromosome band 5q12]
Location_base_pair Starts at 60945205 and ends at 61153026 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

 



External links

 

Nomenclature
HGNC (Hugo)NDUFAF2   28086
Cards
Entrez_Gene (NCBI)NDUFAF2    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]  chr5:60945205-61153026 [Contig_View]  NDUFAF2 [Vega]
ICGC DataPortalENSG00000164182
TCGA cBioPortalNDUFAF2
AceView (NCBI)NDUFAF2
Genatlas (Paris)NDUFAF2
SOURCE (Princeton)NDUFAF2
Genetics Home Reference (NIH)NDUFAF2
Genomic and cartography
GoldenPath hg38 (UCSC)NDUFAF2  -     chr5:60945205-61153026 +  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
Genome Data Viewer NCBINDUFAF2 [Mapview hg19]  
OMIM609653   618233   
Gene and transcription
Genbank (Entrez)AB183433 AF087990 AI352161 AK026051 AK291296
RefSeq transcript (Entrez)NM_174889
Consensus coding sequences : CCDS (NCBI)NDUFAF2
Gene ExpressionNDUFAF2 [ NCBI-GEO ]   NDUFAF2 [ EBI - ARRAY_EXPRESS ]   NDUFAF2 [ SEEK ]   NDUFAF2 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFAF2 [ Firebrowse - Broad ]
GenevisibleExpression of NDUFAF2 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
PhosPhoSitePlusQ8N183
Domains : Interpro (EBI)NDUFA12   
Domain families : Pfam (Sanger)NDUFA12 (PF05071)   
Domain families : Pfam (NCBI)pfam05071   
Conserved Domain (NCBI)NDUFAF2
SuperfamilyQ8N183
AlphaFold pdb e-kbQ8N183   
Human Protein Atlas [tissue]ENSG00000164182-NDUFAF2 [tissue]
HPRD14288
Protein Interaction databases
DIP (DOE-UCLA)Q8N183
IntAct (EBI)Q8N183
BioGRIDNDUFAF2
STRING (EMBL)NDUFAF2
ZODIACNDUFAF2
Ontologies - Pathways
QuickGOQ8N183
Ontology : AmiGOprotein binding  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex I assembly  protein-containing complex binding  negative regulation of insulin secretion involved in cellular response to glucose stimulus  
Ontology : EGO-EBIprotein binding  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex I assembly  protein-containing complex binding  negative regulation of insulin secretion involved in cellular response to glucose stimulus  
NDEx NetworkNDUFAF2
Atlas of Cancer Signalling NetworkNDUFAF2
Wikipedia pathwaysNDUFAF2
Orthology - Evolution
OrthoDB91942
GeneTree (enSembl)ENSG00000164182
Phylogenetic Trees/Animal Genes : TreeFamNDUFAF2
Homologs : HomoloGeneNDUFAF2
Homology/Alignments : Family Browser (UCSC)NDUFAF2
Gene fusions - Rearrangements
Fusion : MitelmanNDFIP1::NDUFAF2 [5q31.3/5q12.1]  
Fusion : MitelmanNDUFAF2::ANKRD31 [5q12.1/5q13.3]  
Fusion : MitelmanNDUFAF2::MAST4 [5q12.1/5q12.3]  
Fusion : QuiverNDUFAF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFAF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFAF2
dbVarNDUFAF2
ClinVarNDUFAF2
MonarchNDUFAF2
1000_GenomesNDUFAF2 
Exome Variant ServerNDUFAF2
GNOMAD BrowserENSG00000164182
Varsome BrowserNDUFAF2
ACMGNDUFAF2 variants
VarityQ8N183
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)[gene] [transcripts] [variants]
BioMutaNDUFAF2
DgiDB (Drug Gene Interaction Database)NDUFAF2
DoCM (Curated mutations)NDUFAF2
CIViC (Clinical Interpretations of Variants in Cancer)NDUFAF2
Cancer3DNDUFAF2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609653    618233   
Orphanet369    19814   
DisGeNETNDUFAF2
MedgenNDUFAF2
Genetic Testing Registry NDUFAF2
NextProtQ8N183 [Medical]
GENETestsNDUFAF2
Target ValidationNDUFAF2
Huge Navigator NDUFAF2 [HugePedia]
ClinGenNDUFAF2
Clinical trials, drugs, therapy
MyCancerGenomeNDUFAF2
Protein Interactions : CTDNDUFAF2
Pharm GKB GenePA162397398
PharosQ8N183
Clinical trialNDUFAF2
Miscellaneous
canSAR (ICR)NDUFAF2
HarmonizomeNDUFAF2
ARCHS4NDUFAF2
DataMed IndexNDUFAF2
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNDUFAF2
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 : Sun Jan 16 18:24:25 CET 2022

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.