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ATP8A2 (ATPase phospholipid transporting 8A2)

Identity

Alias_namesATPase, aminophospholipid transporter-like, Class I, type 8A, member 2
ATPase, aminophospholipid transporter-like, class I, type 8A, member 2
ATPase, aminophospholipid transporter, class I, type 8A, member 2
Alias_symbol (synonym)ATPIB
ML-1
Other aliasATP
CAMRQ4
IB
HGNC (Hugo) ATP8A2
LocusID (NCBI) 51761
Atlas_Id 727
Location 13q12.13  [Link to chromosome band 13q12]
Location_base_pair Starts at 25468774 and ends at 26025851 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		ATP8A2 (13q12.13) / CRYL1 (13q12.11)ATP8A2 (13q12.13) / FECH (18q21.31)MICU2 (13q12.11) / ATP8A2 (13q12.13)
RNF13 (3q25.1) / ATP8A2 (13q12.13)ATP8A2 13q12.13 / CRYL1 13q12.11EFHA1 ATP8A2 13q12.13
RNF13 3q25.1 / ATP8A2 13q12.13

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)ATP8A2   13533
Cards
Entrez_Gene (NCBI)ATP8A2  51761  ATPase phospholipid transporting 8A2
AliasesATP; ATPIB; CAMRQ4; IB; 
ML-1
GeneCards (Weizmann)ATP8A2
Ensembl hg19 (Hinxton)ENSG00000132932 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132932 [Gene_View]  chr13:25468774-26025851 [Contig_View]  ATP8A2 [Vega]
ICGC DataPortalENSG00000132932
TCGA cBioPortalATP8A2
AceView (NCBI)ATP8A2
Genatlas (Paris)ATP8A2
WikiGenes51761
SOURCE (Princeton)ATP8A2
Genetics Home Reference (NIH)ATP8A2
Genomic and cartography
GoldenPath hg38 (UCSC)ATP8A2  -     chr13:25468774-26025851 +  13q12.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP8A2  -     13q12.13   [Description]    (hg19-Feb_2009)
EnsemblATP8A2 - 13q12.13 [CytoView hg19]  ATP8A2 - 13q12.13 [CytoView hg38]
Mapping of homologs : NCBIATP8A2 [Mapview hg19]  ATP8A2 [Mapview hg38]
OMIM605870   615268   
Gene and transcription
Genbank (Entrez)AF236871 AK022096 AK094653 AK126031 AK127263
RefSeq transcript (Entrez)NM_001313741 NM_016529
RefSeq genomic (Entrez)NC_000013 NC_018924 NG_042855 NT_187593
Consensus coding sequences : CCDS (NCBI)ATP8A2
Cluster EST : UnigeneHs.599723 [ NCBI ]
CGAP (NCI)Hs.599723
Alternative Splicing GalleryENSG00000132932
Gene ExpressionATP8A2 [ NCBI-GEO ]   ATP8A2 [ EBI - ARRAY_EXPRESS ]   ATP8A2 [ SEEK ]   ATP8A2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP8A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51761
GTEX Portal (Tissue expression)ATP8A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NTI2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NTI2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NTI2
Splice isoforms : SwissVarQ9NTI2
Catalytic activity : Enzyme3.6.3.1 [ Enzyme-Expasy ]   3.6.3.13.6.3.1 [ IntEnz-EBI ]   3.6.3.1 [ BRENDA ]   3.6.3.1 [ KEGG ]   
PhosPhoSitePlusQ9NTI2
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATPase_P-typ_cyto_domN    ATPase_P-typ_P_site    ATPase_P-typ_transduc_dom_A    HAD-like_dom    P-type_ATPase_IV    P-type_ATPase_N    P_typ_ATPase    P_typ_ATPase_c   
Domain families : Pfam (Sanger)E1-E2_ATPase (PF00122)    PhoLip_ATPase_C (PF16212)    PhoLip_ATPase_N (PF16209)   
Domain families : Pfam (NCBI)pfam00122    pfam16212    pfam16209   
Conserved Domain (NCBI)ATP8A2
DMDM Disease mutations51761
Blocks (Seattle)ATP8A2
SuperfamilyQ9NTI2
Human Protein AtlasENSG00000132932
Peptide AtlasQ9NTI2
HPRD05795
IPIIPI00939691   IPI01011315   IPI00465166   IPI00477638   
Protein Interaction databases
DIP (DOE-UCLA)Q9NTI2
IntAct (EBI)Q9NTI2
FunCoupENSG00000132932
BioGRIDATP8A2
STRING (EMBL)ATP8A2
ZODIACATP8A2
Ontologies - Pathways
QuickGOQ9NTI2
Ontology : AmiGOmagnesium ion binding  photoreceptor outer segment  involuntary skeletal muscle contraction  phospholipid-translocating ATPase activity  ATP binding  nucleoplasm  endosome  Golgi apparatus  plasma membrane  axonogenesis  aging  negative regulation of cell proliferation  retina layer formation  positive regulation of neuron projection development  response to auditory stimulus  integral component of membrane  positive regulation of multicellular organism growth  inner ear morphogenesis  eating behavior  skin development  phospholipid translocation  neuron development  neuromuscular process controlling posture  detection of light stimulus involved in visual perception  neurofilament cytoskeleton organization  positive regulation of phospholipid translocation  
Ontology : EGO-EBImagnesium ion binding  photoreceptor outer segment  involuntary skeletal muscle contraction  phospholipid-translocating ATPase activity  ATP binding  nucleoplasm  endosome  Golgi apparatus  plasma membrane  axonogenesis  aging  negative regulation of cell proliferation  retina layer formation  positive regulation of neuron projection development  response to auditory stimulus  integral component of membrane  positive regulation of multicellular organism growth  inner ear morphogenesis  eating behavior  skin development  phospholipid translocation  neuron development  neuromuscular process controlling posture  detection of light stimulus involved in visual perception  neurofilament cytoskeleton organization  positive regulation of phospholipid translocation  
NDEx NetworkATP8A2
Atlas of Cancer Signalling NetworkATP8A2
Wikipedia pathwaysATP8A2
Orthology - Evolution
OrthoDB51761
GeneTree (enSembl)ENSG00000132932
Phylogenetic Trees/Animal Genes : TreeFamATP8A2
HOVERGENQ9NTI2
HOGENOMQ9NTI2
Homologs : HomoloGeneATP8A2
Homology/Alignments : Family Browser (UCSC)ATP8A2
Gene fusions - Rearrangements
Fusion : MitelmanATP8A2/CRYL1 [13q12.13/13q12.11]  
Fusion : MitelmanMICU2/ATP8A2 [13q12.11/13q12.13]  [t(13;13)(q12;q12)]  
Fusion : MitelmanRNF13/ATP8A2 [3q25.1/13q12.13]  [t(3;13)(q25;q12)]  
Fusion: TCGAATP8A2 13q12.13 CRYL1 13q12.11 OV
Fusion: TCGAEFHA1 ATP8A2 13q12.13 BRCA
Fusion: TCGARNF13 3q25.1 ATP8A2 13q12.13 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP8A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP8A2
dbVarATP8A2
ClinVarATP8A2
1000_GenomesATP8A2 
Exome Variant ServerATP8A2
ExAC (Exome Aggregation Consortium)ATP8A2 (select the gene name)
Genetic variants : HAPMAP51761
Genomic Variants (DGV)ATP8A2 [DGVbeta]
DECIPHERATP8A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP8A2 
Mutations
ICGC Data PortalATP8A2 
TCGA Data PortalATP8A2 
Broad Tumor PortalATP8A2
OASIS PortalATP8A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP8A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP8A2
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
BioMutasearch ATP8A2
DgiDB (Drug Gene Interaction Database)ATP8A2
DoCM (Curated mutations)ATP8A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP8A2 (select a term)
intoGenATP8A2
Cancer3DATP8A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605870    615268   
Orphanet1777   
MedgenATP8A2
Genetic Testing Registry ATP8A2
NextProtQ9NTI2 [Medical]
TSGene51761
GENETestsATP8A2
Target ValidationATP8A2
Huge Navigator ATP8A2 [HugePedia]
snp3D : Map Gene to Disease51761
BioCentury BCIQATP8A2
ClinGenATP8A2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51761
Chemical/Pharm GKB GenePA25166
Clinical trialATP8A2
Miscellaneous
canSAR (ICR)ATP8A2 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP8A2
EVEXATP8A2
GoPubMedATP8A2
iHOPATP8A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:24:59 CEST 2017
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