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ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2)

Identity

Alias_symbol (synonym)Atp12p
ATP12
LP3663
MGC29736
Other aliasATP12p
MC5DN1
HGNC (Hugo) ATPAF2
LocusID (NCBI) 91647
Atlas_Id 54144
Location 17p11.2  [Link to chromosome band 17p11]
Location_base_pair Starts at 18018020 and ends at 18039166 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)
ATPAF2 (17p11.2) / DRC3 (17p11.2)ATPAF2 (17p11.2) / ZSWIM5 (1p34.1)TOM1L2 (17p11.2) / ATPAF2 (17p11.2)
TTC19 (17p12) / ATPAF2 (17p11.2)TOM1L2 17p11.2 / ATPAF2 17p11.2

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) [ 1 ]
  Lung: Translocations in Adenocarcinoma


External links

Nomenclature
HGNC (Hugo)ATPAF2   18802
Cards
Entrez_Gene (NCBI)ATPAF2  91647  ATP synthase mitochondrial F1 complex assembly factor 2
AliasesATP12; ATP12p; LP3663; MC5DN1
GeneCards (Weizmann)ATPAF2
Ensembl hg19 (Hinxton)ENSG00000171953 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171953 [Gene_View]  chr17:18018020-18039166 [Contig_View]  ATPAF2 [Vega]
ICGC DataPortalENSG00000171953
TCGA cBioPortalATPAF2
AceView (NCBI)ATPAF2
Genatlas (Paris)ATPAF2
WikiGenes91647
SOURCE (Princeton)ATPAF2
Genetics Home Reference (NIH)ATPAF2
Genomic and cartography
GoldenPath hg38 (UCSC)ATPAF2  -     chr17:18018020-18039166 -  17p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATPAF2  -     17p11.2   [Description]    (hg19-Feb_2009)
EnsemblATPAF2 - 17p11.2 [CytoView hg19]  ATPAF2 - 17p11.2 [CytoView hg38]
Mapping of homologs : NCBIATPAF2 [Mapview hg19]  ATPAF2 [Mapview hg38]
OMIM604273   608918   
Gene and transcription
Genbank (Entrez)AA760883 AF052185 AF070584 AI857387 AK290257
RefSeq transcript (Entrez)NM_145691
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATPAF2
Cluster EST : UnigeneHs.528889 [ NCBI ]
CGAP (NCI)Hs.528889
Alternative Splicing GalleryENSG00000171953
Gene ExpressionATPAF2 [ NCBI-GEO ]   ATPAF2 [ EBI - ARRAY_EXPRESS ]   ATPAF2 [ SEEK ]   ATPAF2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATPAF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)91647
GTEX Portal (Tissue expression)ATPAF2
Human Protein AtlasENSG00000171953-ATPAF2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N5M1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N5M1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N5M1
Splice isoforms : SwissVarQ8N5M1
PhosPhoSitePlusQ8N5M1
Domains : Interpro (EBI)ATP12_ATP_synth-F1-assembly    ATPase_assmbl_ATP12_dom   
Domain families : Pfam (Sanger)ATP12 (PF07542)   
Domain families : Pfam (NCBI)pfam07542   
Conserved Domain (NCBI)ATPAF2
DMDM Disease mutations91647
Blocks (Seattle)ATPAF2
SuperfamilyQ8N5M1
Human Protein Atlas [tissue]ENSG00000171953-ATPAF2 [tissue]
Peptide AtlasQ8N5M1
HPRD10599
IPIIPI00296999   IPI00908604   IPI01014984   IPI00790950   
Protein Interaction databases
DIP (DOE-UCLA)Q8N5M1
IntAct (EBI)Q8N5M1
FunCoupENSG00000171953
BioGRIDATPAF2
STRING (EMBL)ATPAF2
ZODIACATPAF2
Ontologies - Pathways
QuickGOQ8N5M1
Ontology : AmiGOprotein binding  mitochondrion  cytosol  nuclear speck  proton-transporting ATP synthase complex assembly  
Ontology : EGO-EBIprotein binding  mitochondrion  cytosol  nuclear speck  proton-transporting ATP synthase complex assembly  
NDEx NetworkATPAF2
Atlas of Cancer Signalling NetworkATPAF2
Wikipedia pathwaysATPAF2
Orthology - Evolution
OrthoDB91647
GeneTree (enSembl)ENSG00000171953
Phylogenetic Trees/Animal Genes : TreeFamATPAF2
HOVERGENQ8N5M1
HOGENOMQ8N5M1
Homologs : HomoloGeneATPAF2
Homology/Alignments : Family Browser (UCSC)ATPAF2
Gene fusions - Rearrangements
Fusion : MitelmanTOM1L2/ATPAF2 [17p11.2/17p11.2]  [t(17;17)(p11;p11)]  
Fusion : MitelmanTTC19/ATPAF2 [17p12/17p11.2]  [t(17;17)(p11;p12)]  
Fusion: TCGA_MDACCTOM1L2 17p11.2 ATPAF2 17p11.2 HNSC
Tumor Fusion PortalATPAF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATPAF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATPAF2
dbVarATPAF2
ClinVarATPAF2
1000_GenomesATPAF2 
Exome Variant ServerATPAF2
ExAC (Exome Aggregation Consortium)ENSG00000171953
GNOMAD BrowserENSG00000171953
Genetic variants : HAPMAP91647
Genomic Variants (DGV)ATPAF2 [DGVbeta]
DECIPHERATPAF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATPAF2 
Mutations
ICGC Data PortalATPAF2 
TCGA Data PortalATPAF2 
Broad Tumor PortalATPAF2
OASIS PortalATPAF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATPAF2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATPAF2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ATPAF2
DgiDB (Drug Gene Interaction Database)ATPAF2
DoCM (Curated mutations)ATPAF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATPAF2 (select a term)
intoGenATPAF2
Cancer3DATPAF2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604273    608918   
Orphanet19800   
DisGeNETATPAF2
MedgenATPAF2
Genetic Testing Registry ATPAF2
NextProtQ8N5M1 [Medical]
TSGene91647
GENETestsATPAF2
Target ValidationATPAF2
Huge Navigator ATPAF2 [HugePedia]
snp3D : Map Gene to Disease91647
BioCentury BCIQATPAF2
ClinGenATPAF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD91647
Chemical/Pharm GKB GenePA38686
Clinical trialATPAF2
Miscellaneous
canSAR (ICR)ATPAF2 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATPAF2
EVEXATPAF2
GoPubMedATPAF2
iHOPATPAF2
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 : Tue Nov 21 14:04:19 CET 2017

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