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ABCA7 (ATP binding cassette subfamily A member 7)

Identity

Alias_namesATP-binding cassette
Alias_symbol (synonym)ABCX
Other aliasABCA-SSN
AD9
HGNC (Hugo) ABCA7
LocusID (NCBI) 10347
Atlas_Id 56424
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 1040103 and ends at 1065571 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)
ABCA7 (19p13.3) / ABCA7 (19p13.3)ABCA7 (19p13.3) / ZNF317 (19p13.2)GALNT3 (2q24.3) / ABCA7 (19p13.3)

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)ABCA7   37
Cards
Entrez_Gene (NCBI)ABCA7  10347  ATP binding cassette subfamily A member 7
AliasesABCA-SSN; ABCX; AD9
GeneCards (Weizmann)ABCA7
Ensembl hg19 (Hinxton)ENSG00000064687 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000064687 [Gene_View]  ENSG00000064687 [Sequence]  chr19:1040103-1065571 [Contig_View]  ABCA7 [Vega]
ICGC DataPortalENSG00000064687
TCGA cBioPortalABCA7
AceView (NCBI)ABCA7
Genatlas (Paris)ABCA7
WikiGenes10347
SOURCE (Princeton)ABCA7
Genetics Home Reference (NIH)ABCA7
Genomic and cartography
GoldenPath hg38 (UCSC)ABCA7  -     chr19:1040103-1065571 +  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCA7  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblABCA7 - 19p13.3 [CytoView hg19]  ABCA7 - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIABCA7 [Mapview hg19]  ABCA7 [Mapview hg38]
OMIM605414   608907   
Gene and transcription
Genbank (Entrez)AB055390 AF140342 AF250238 AF328787 AK097344
RefSeq transcript (Entrez)NM_019112 NM_033308
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCA7
Cluster EST : UnigeneHs.134514 [ NCBI ]
CGAP (NCI)Hs.134514
Alternative Splicing GalleryENSG00000064687
Gene ExpressionABCA7 [ NCBI-GEO ]   ABCA7 [ EBI - ARRAY_EXPRESS ]   ABCA7 [ SEEK ]   ABCA7 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCA7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10347
GTEX Portal (Tissue expression)ABCA7
Human Protein AtlasENSG00000064687-ABCA7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IZY2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IZY2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IZY2
Splice isoforms : SwissVarQ8IZY2
PhosPhoSitePlusQ8IZY2
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC_transporter-like    ABC_transporter_CS    ABCA    ABCA7    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCA7
DMDM Disease mutations10347
Blocks (Seattle)ABCA7
SuperfamilyQ8IZY2
Human Protein Atlas [tissue]ENSG00000064687-ABCA7 [tissue]
Peptide AtlasQ8IZY2
HPRD09255
IPIIPI00293895   IPI00020941   IPI00910976   IPI01008794   IPI00979133   IPI01011525   IPI00978518   IPI00981873   
Protein Interaction databases
DIP (DOE-UCLA)Q8IZY2
IntAct (EBI)Q8IZY2
FunCoupENSG00000064687
BioGRIDABCA7
STRING (EMBL)ABCA7
ZODIACABCA7
Ontologies - Pathways
QuickGOQ8IZY2
Ontology : AmiGOGolgi membrane  phagocytic cup  transporter activity  ATP binding  Golgi apparatus  plasma membrane  plasma membrane  lipid transport  phagocytosis  memory  cell surface  positive regulation of cholesterol efflux  integral component of membrane  ATPase activity  peptide cross-linking  cell junction  early endosome membrane  ruffle membrane  cholesterol efflux  phospholipid efflux  apolipoprotein A-I receptor activity  high-density lipoprotein particle assembly  protein localization to nucleus  apolipoprotein A-I-mediated signaling pathway  ATPase activity, coupled to transmembrane movement of substances  negative regulation of amyloid precursor protein biosynthetic process  ATP-binding cassette (ABC) transporter complex  intracellular membrane-bounded organelle  phospholipid translocation  positive regulation of phagocytosis  transmembrane transport  positive regulation of ERK1 and ERK2 cascade  phosphatidylcholine-translocating ATPase activity  phosphatidylserine-translocating ATPase activity  positive regulation of amyloid-beta clearance  positive regulation of engulfment of apoptotic cell  negative regulation of amyloid-beta formation  positive regulation of phospholipid efflux  
Ontology : EGO-EBIGolgi membrane  phagocytic cup  transporter activity  ATP binding  Golgi apparatus  plasma membrane  plasma membrane  lipid transport  phagocytosis  memory  cell surface  positive regulation of cholesterol efflux  integral component of membrane  ATPase activity  peptide cross-linking  cell junction  early endosome membrane  ruffle membrane  cholesterol efflux  phospholipid efflux  apolipoprotein A-I receptor activity  high-density lipoprotein particle assembly  protein localization to nucleus  apolipoprotein A-I-mediated signaling pathway  ATPase activity, coupled to transmembrane movement of substances  negative regulation of amyloid precursor protein biosynthetic process  ATP-binding cassette (ABC) transporter complex  intracellular membrane-bounded organelle  phospholipid translocation  positive regulation of phagocytosis  transmembrane transport  positive regulation of ERK1 and ERK2 cascade  phosphatidylcholine-translocating ATPase activity  phosphatidylserine-translocating ATPase activity  positive regulation of amyloid-beta clearance  positive regulation of engulfment of apoptotic cell  negative regulation of amyloid-beta formation  positive regulation of phospholipid efflux  
Pathways : KEGGABC transporters   
NDEx NetworkABCA7
Atlas of Cancer Signalling NetworkABCA7
Wikipedia pathwaysABCA7
Orthology - Evolution
OrthoDB10347
GeneTree (enSembl)ENSG00000064687
Phylogenetic Trees/Animal Genes : TreeFamABCA7
HOVERGENQ8IZY2
HOGENOMQ8IZY2
Homologs : HomoloGeneABCA7
Homology/Alignments : Family Browser (UCSC)ABCA7
Gene fusions - Rearrangements
Fusion : QuiverABCA7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCA7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCA7
dbVarABCA7
ClinVarABCA7
1000_GenomesABCA7 
Exome Variant ServerABCA7
ExAC (Exome Aggregation Consortium)ENSG00000064687
GNOMAD BrowserENSG00000064687
Varsome BrowserABCA7
Genetic variants : HAPMAP10347
Genomic Variants (DGV)ABCA7 [DGVbeta]
DECIPHERABCA7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCA7 
Mutations
ICGC Data PortalABCA7 
TCGA Data PortalABCA7 
Broad Tumor PortalABCA7
OASIS PortalABCA7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCA7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCA7
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 ABCA7
DgiDB (Drug Gene Interaction Database)ABCA7
DoCM (Curated mutations)ABCA7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCA7 (select a term)
intoGenABCA7
Cancer3DABCA7(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605414    608907   
Orphanet
DisGeNETABCA7
MedgenABCA7
Genetic Testing Registry ABCA7
NextProtQ8IZY2 [Medical]
TSGene10347
GENETestsABCA7
Target ValidationABCA7
Huge Navigator ABCA7 [HugePedia]
snp3D : Map Gene to Disease10347
BioCentury BCIQABCA7
ClinGenABCA7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10347
Chemical/Pharm GKB GenePA24382
Clinical trialABCA7
Miscellaneous
canSAR (ICR)ABCA7 (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCA7
EVEXABCA7
GoPubMedABCA7
iHOPABCA7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:07:07 CEST 2018

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