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ATP8B4 (ATPase phospholipid transporting 8B4 (putative))

Identity

Alias_namesATPase, Class I, type 8B, member 4
ATPase, class I, type 8B, member 4
Alias_symbol (synonym)ATPIM
KIAA1939
Other alias
HGNC (Hugo) ATP8B4
LocusID (NCBI) 79895
Atlas_Id 53939
Location 15q21.2  [Link to chromosome band 15q21]
Location_base_pair Starts at 49858238 and ends at 50119222 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP8B4 (15q21.2) / ATP8B4 (15q21.2)ATP8B4 (15q21.2) / DPH6 (15q14)ATP8B4 (15q21.2) / MCM3 (6p12.2)
ATP8B4 (15q21.2) / PWRN1 (15q11.2)ATP8B4 15q21.2 ATPBD4

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)ATP8B4   13536
Cards
Entrez_Gene (NCBI)ATP8B4  79895  ATPase phospholipid transporting 8B4 (putative)
AliasesATPIM
GeneCards (Weizmann)ATP8B4
Ensembl hg19 (Hinxton)ENSG00000104043 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104043 [Gene_View]  chr15:49858238-50119222 [Contig_View]  ATP8B4 [Vega]
ICGC DataPortalENSG00000104043
TCGA cBioPortalATP8B4
AceView (NCBI)ATP8B4
Genatlas (Paris)ATP8B4
WikiGenes79895
SOURCE (Princeton)ATP8B4
Genetics Home Reference (NIH)ATP8B4
Genomic and cartography
GoldenPath hg38 (UCSC)ATP8B4  -     chr15:49858238-50119222 -  15q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP8B4  -     15q21.2   [Description]    (hg19-Feb_2009)
EnsemblATP8B4 - 15q21.2 [CytoView hg19]  ATP8B4 - 15q21.2 [CytoView hg38]
Mapping of homologs : NCBIATP8B4 [Mapview hg19]  ATP8B4 [Mapview hg38]
OMIM609123   
Gene and transcription
Genbank (Entrez)AB075819 AK025125 AK123747 AK128602 BC057236
RefSeq transcript (Entrez)NM_024837
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP8B4
Cluster EST : UnigeneHs.511311 [ NCBI ]
CGAP (NCI)Hs.511311
Alternative Splicing GalleryENSG00000104043
Gene ExpressionATP8B4 [ NCBI-GEO ]   ATP8B4 [ EBI - ARRAY_EXPRESS ]   ATP8B4 [ SEEK ]   ATP8B4 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP8B4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79895
GTEX Portal (Tissue expression)ATP8B4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TF62   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TF62  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TF62
Splice isoforms : SwissVarQ8TF62
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 ]   
PhosPhoSitePlusQ8TF62
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATP8B4    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)ATP8B4
DMDM Disease mutations79895
Blocks (Seattle)ATP8B4
SuperfamilyQ8TF62
Human Protein AtlasENSG00000104043
Peptide AtlasQ8TF62
HPRD10681
IPIIPI00152868   
Protein Interaction databases
DIP (DOE-UCLA)Q8TF62
IntAct (EBI)Q8TF62
FunCoupENSG00000104043
BioGRIDATP8B4
STRING (EMBL)ATP8B4
ZODIACATP8B4
Ontologies - Pathways
QuickGOQ8TF62
Ontology : AmiGOmagnesium ion binding  phospholipid-translocating ATPase activity  ATP binding  Golgi apparatus  plasma membrane  plasma membrane  Golgi organization  integral component of membrane  specific granule membrane  neutrophil degranulation  phospholipid translocation  tertiary granule membrane  
Ontology : EGO-EBImagnesium ion binding  phospholipid-translocating ATPase activity  ATP binding  Golgi apparatus  plasma membrane  plasma membrane  Golgi organization  integral component of membrane  specific granule membrane  neutrophil degranulation  phospholipid translocation  tertiary granule membrane  
NDEx NetworkATP8B4
Atlas of Cancer Signalling NetworkATP8B4
Wikipedia pathwaysATP8B4
Orthology - Evolution
OrthoDB79895
GeneTree (enSembl)ENSG00000104043
Phylogenetic Trees/Animal Genes : TreeFamATP8B4
HOVERGENQ8TF62
HOGENOMQ8TF62
Homologs : HomoloGeneATP8B4
Homology/Alignments : Family Browser (UCSC)ATP8B4
Gene fusions - Rearrangements
Fusion : MitelmanATP8B4/DPH6 [15q21.2/15q14]  
Fusion: TCGAATP8B4 15q21.2 ATPBD4 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP8B4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP8B4
dbVarATP8B4
ClinVarATP8B4
1000_GenomesATP8B4 
Exome Variant ServerATP8B4
ExAC (Exome Aggregation Consortium)ATP8B4 (select the gene name)
Genetic variants : HAPMAP79895
Genomic Variants (DGV)ATP8B4 [DGVbeta]
DECIPHERATP8B4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP8B4 
Mutations
ICGC Data PortalATP8B4 
TCGA Data PortalATP8B4 
Broad Tumor PortalATP8B4
OASIS PortalATP8B4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP8B4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP8B4
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 ATP8B4
DgiDB (Drug Gene Interaction Database)ATP8B4
DoCM (Curated mutations)ATP8B4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP8B4 (select a term)
intoGenATP8B4
Cancer3DATP8B4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609123   
Orphanet
MedgenATP8B4
Genetic Testing Registry ATP8B4
NextProtQ8TF62 [Medical]
TSGene79895
GENETestsATP8B4
Target ValidationATP8B4
Huge Navigator ATP8B4 [HugePedia]
snp3D : Map Gene to Disease79895
BioCentury BCIQATP8B4
ClinGenATP8B4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79895
Chemical/Pharm GKB GenePA25169
Clinical trialATP8B4
Miscellaneous
canSAR (ICR)ATP8B4 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP8B4
EVEXATP8B4
GoPubMedATP8B4
iHOPATP8B4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:47:37 CEST 2017

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