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ATP6AP2 (ATPase H+ transporting accessory protein 2)

Identity

Alias_namesATP6IP2
ATPase, H transporting, lysosomal interacting protein 2
ATPase, H transporting, lysosomal accessory protein 2
Alias_symbol (synonym)M8-9
APT6M8-9
ATP6M8-9
PRR
RENR
Other aliasELDF10
HT028
MRXE
MRXSH
MSTP009
XMRE
XPDS
HGNC (Hugo) ATP6AP2
LocusID (NCBI) 10159
Atlas_Id 50184
Location Xp11.4  [Link to chromosome band Xp11]
Location_base_pair Starts at 40580964 and ends at 40606636 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP6AP2 (Xp11.4) / APC (5q22.2)ATP6AP2 (Xp11.4) / ARHGEF12 (11q23.3)ATP6AP2 (Xp11.4) / EIF3M (11p13)
ATP6AP2 Xp11.4 / EIF3M 11p13

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)ATP6AP2   18305
Cards
Entrez_Gene (NCBI)ATP6AP2  10159  ATPase H+ transporting accessory protein 2
AliasesAPT6M8-9; ATP6IP2; ATP6M8-9; ELDF10; 
HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR; XMRE; XPDS
GeneCards (Weizmann)ATP6AP2
Ensembl hg19 (Hinxton)ENSG00000182220 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182220 [Gene_View]  chrX:40580964-40606636 [Contig_View]  ATP6AP2 [Vega]
ICGC DataPortalENSG00000182220
TCGA cBioPortalATP6AP2
AceView (NCBI)ATP6AP2
Genatlas (Paris)ATP6AP2
WikiGenes10159
SOURCE (Princeton)ATP6AP2
Genetics Home Reference (NIH)ATP6AP2
Genomic and cartography
GoldenPath hg38 (UCSC)ATP6AP2  -     chrX:40580964-40606636 +  Xp11.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6AP2  -     Xp11.4   [Description]    (hg19-Feb_2009)
EnsemblATP6AP2 - Xp11.4 [CytoView hg19]  ATP6AP2 - Xp11.4 [CytoView hg38]
Mapping of homologs : NCBIATP6AP2 [Mapview hg19]  ATP6AP2 [Mapview hg38]
OMIM300423   300556   300911   
Gene and transcription
Genbank (Entrez)AF109363 AF248966 AF291814 AK075382 AK293510
RefSeq transcript (Entrez)NM_005765
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP6AP2
Cluster EST : UnigeneHs.495960 [ NCBI ]
CGAP (NCI)Hs.495960
Alternative Splicing GalleryENSG00000182220
Gene ExpressionATP6AP2 [ NCBI-GEO ]   ATP6AP2 [ EBI - ARRAY_EXPRESS ]   ATP6AP2 [ SEEK ]   ATP6AP2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6AP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10159
GTEX Portal (Tissue expression)ATP6AP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75787   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75787  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75787
Splice isoforms : SwissVarO75787
PhosPhoSitePlusO75787
Domains : Interpro (EBI)Renin_rcpt   
Domain families : Pfam (Sanger)Renin_r (PF07850)   
Domain families : Pfam (NCBI)pfam07850   
Conserved Domain (NCBI)ATP6AP2
DMDM Disease mutations10159
Blocks (Seattle)ATP6AP2
PDB (SRS)3LBS    3LC8   
PDB (PDBSum)3LBS    3LC8   
PDB (IMB)3LBS    3LC8   
PDB (RSDB)3LBS    3LC8   
Structural Biology KnowledgeBase3LBS    3LC8   
SCOP (Structural Classification of Proteins)3LBS    3LC8   
CATH (Classification of proteins structures)3LBS    3LC8   
SuperfamilyO75787
Human Protein AtlasENSG00000182220
Peptide AtlasO75787
HPRD06454
IPIIPI00168884   IPI00642918   IPI01012575   IPI00922895   IPI00921999   IPI00642797   IPI00872971   
Protein Interaction databases
DIP (DOE-UCLA)O75787
IntAct (EBI)O75787
FunCoupENSG00000182220
BioGRIDATP6AP2
STRING (EMBL)ATP6AP2
ZODIACATP6AP2
Ontologies - Pathways
QuickGOO75787
Ontology : AmiGOangiotensin maturation  angiotensin maturation  receptor activity  protein binding  plasma membrane  external side of plasma membrane  integral component of membrane  enzyme binding  rostrocaudal neural tube patterning  positive regulation of Wnt signaling pathway  positive regulation of transforming growth factor beta1 production  neuron projection  neutrophil degranulation  regulation of MAPK cascade  cell body  eye pigmentation  head morphogenesis  extracellular exosome  tertiary granule membrane  ficolin-1-rich granule membrane  
Ontology : EGO-EBIangiotensin maturation  angiotensin maturation  receptor activity  protein binding  plasma membrane  external side of plasma membrane  integral component of membrane  enzyme binding  rostrocaudal neural tube patterning  positive regulation of Wnt signaling pathway  positive regulation of transforming growth factor beta1 production  neuron projection  neutrophil degranulation  regulation of MAPK cascade  cell body  eye pigmentation  head morphogenesis  extracellular exosome  tertiary granule membrane  ficolin-1-rich granule membrane  
NDEx NetworkATP6AP2
Atlas of Cancer Signalling NetworkATP6AP2
Wikipedia pathwaysATP6AP2
Orthology - Evolution
OrthoDB10159
GeneTree (enSembl)ENSG00000182220
Phylogenetic Trees/Animal Genes : TreeFamATP6AP2
HOVERGENO75787
HOGENOMO75787
Homologs : HomoloGeneATP6AP2
Homology/Alignments : Family Browser (UCSC)ATP6AP2
Gene fusions - Rearrangements
Fusion : MitelmanATP6AP2/EIF3M [Xp11.4/11p13]  
Fusion: TCGAATP6AP2 Xp11.4 EIF3M 11p13 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6AP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6AP2
dbVarATP6AP2
ClinVarATP6AP2
1000_GenomesATP6AP2 
Exome Variant ServerATP6AP2
ExAC (Exome Aggregation Consortium)ATP6AP2 (select the gene name)
Genetic variants : HAPMAP10159
Genomic Variants (DGV)ATP6AP2 [DGVbeta]
DECIPHERATP6AP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP6AP2 
Mutations
ICGC Data PortalATP6AP2 
TCGA Data PortalATP6AP2 
Broad Tumor PortalATP6AP2
OASIS PortalATP6AP2 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDATP6AP2
intOGen PortalATP6AP2
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)X-chromosome gene database
BioMutasearch ATP6AP2
DgiDB (Drug Gene Interaction Database)ATP6AP2
DoCM (Curated mutations)ATP6AP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6AP2 (select a term)
intoGenATP6AP2
Cancer3DATP6AP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300423    300556    300911   
Orphanet22332    12510   
MedgenATP6AP2
Genetic Testing Registry ATP6AP2
NextProtO75787 [Medical]
TSGene10159
GENETestsATP6AP2
Target ValidationATP6AP2
Huge Navigator ATP6AP2 [HugePedia]
snp3D : Map Gene to Disease10159
BioCentury BCIQATP6AP2
ClinGenATP6AP2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10159
Chemical/Pharm GKB GenePA38523
Clinical trialATP6AP2
Miscellaneous
canSAR (ICR)ATP6AP2 (select the gene name)
Probes
Litterature
PubMed77 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6AP2
EVEXATP6AP2
GoPubMedATP6AP2
iHOPATP6AP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:55:44 CEST 2017

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