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ABCA2 (ATP binding cassette subfamily A member 2)

Identity

Alias (NCBI)ABC2
IDPOGSA
HGNC (Hugo) ABCA2
HGNC Previous nameABC2
HGNC Previous nameATP-binding cassette, sub-family A (ABC1), member 2
LocusID (NCBI) 20
Atlas_Id 52071
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 137007234 and ends at 137028922 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)
ABCA2 (9q34.3) / ATP2B2 (3p25.3)ABCA2 (9q34.3) / CHMP1A (16q24.3)ABCA2 (9q34.3) / HIRA (22q11.21)
ABCA2 (9q34.3) / SYAP1 (Xp22.2)ABCA2 (9q34.3) / TRIM14 (9q22.33)FLNA (Xq28) / ABCA2 (9q34.3)
ABCA2 9q34.3 / TRIM14 9q22.33

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(3;9)(p22;q34) VILL/ABCA2



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(9;9)(q22;q34) ABCA2/TRIM14
t(X;9)(q28;q34) FLNA/ABCA2


External links

Nomenclature
HGNC (Hugo)ABCA2   32
Cards
Entrez_Gene (NCBI)ABCA2  20  ATP binding cassette subfamily A member 2
AliasesABC2; IDPOGSA
GeneCards (Weizmann)ABCA2
Ensembl hg19 (Hinxton)ENSG00000107331 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107331 [Gene_View]  ENSG00000107331 [Sequence]  chr9:137007234-137028922 [Contig_View]  ABCA2 [Vega]
ICGC DataPortalENSG00000107331
TCGA cBioPortalABCA2
AceView (NCBI)ABCA2
Genatlas (Paris)ABCA2
WikiGenes20
SOURCE (Princeton)ABCA2
Genetics Home Reference (NIH)ABCA2
Genomic and cartography
GoldenPath hg38 (UCSC)ABCA2  -     chr9:137007234-137028922 -  9q34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCA2  -     9q34.3   [Description]    (hg19-Feb_2009)
GoldenPathABCA2 - 9q34.3 [CytoView hg19]  ABCA2 - 9q34.3 [CytoView hg38]
ImmunoBaseENSG00000107331
genome Data Viewer NCBIABCA2 [Mapview hg19]  
OMIM600047   618808   
Gene and transcription
Genbank (Entrez)AB028985 AB177854 AF178941 AF327657 AK295489
RefSeq transcript (Entrez)NM_001606 NM_212533
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCA2
Alternative Splicing GalleryENSG00000107331
Gene ExpressionABCA2 [ NCBI-GEO ]   ABCA2 [ EBI - ARRAY_EXPRESS ]   ABCA2 [ SEEK ]   ABCA2 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCA2 [ Firebrowse - Broad ]
GenevisibleExpression of ABCA2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)20
GTEX Portal (Tissue expression)ABCA2
Human Protein AtlasENSG00000107331-ABCA2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BZC7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BZC7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BZC7
Splice isoforms : SwissVarQ9BZC7
PhosPhoSitePlusQ9BZC7
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC_transporter-like    ABC_transporter_CS    ABCA    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCA2
DMDM Disease mutations20
Blocks (Seattle)ABCA2
SuperfamilyQ9BZC7
Human Protein Atlas [tissue]ENSG00000107331-ABCA2 [tissue]
Peptide AtlasQ9BZC7
HPRD08967
IPIIPI00937612   IPI00307592   IPI01009012   IPI00011469   IPI00783396   IPI00947346   IPI00873151   IPI00414303   IPI00745404   IPI01011781   IPI00945354   IPI00946894   IPI00946509   IPI00947282   
Protein Interaction databases
DIP (DOE-UCLA)Q9BZC7
IntAct (EBI)Q9BZC7
FunCoupENSG00000107331
BioGRIDABCA2
STRING (EMBL)ABCA2
ZODIACABCA2
Ontologies - Pathways
QuickGOQ9BZC7
Ontology : AmiGOnucleotide binding  lipid transporter activity  ATP binding  ATP binding  lysosome  lysosomal membrane  endosome  microtubule organizing center  plasma membrane  regulation of transcription by RNA polymerase II  lipid metabolic process  lipid transport  locomotory behavior  endosome membrane  regulation of cholesterol esterification  membrane  integral component of membrane  integral component of membrane  ATPase activity  cytoplasmic vesicle  central nervous system myelin formation  regulation of intracellular cholesterol transport  negative regulation of intracellular cholesterol transport  positive regulation of low-density lipoprotein particle receptor catabolic process  response to drug  ATPase activity, coupled to transmembrane movement of substances  ATPase activity, coupled to transmembrane movement of substances  cholesterol homeostasis  positive regulation of amyloid precursor protein biosynthetic process  ATP-binding cassette (ABC) transporter complex  intracellular membrane-bounded organelle  regulation of cholesterol biosynthetic process  sphingosine biosynthetic process  response to steroid hormone  regulation of endopeptidase activity  transmembrane transport  regulation of protein glycosylation  endopeptidase regulator activity  response to cholesterol  negative regulation of phospholipid biosynthetic process  negative regulation of sphingolipid biosynthetic process  cellular sphingolipid homeostasis  negative regulation of cholesterol efflux  ceramide-translocating ATPase activity  ceramide translocation  regulation of post-translational protein modification  positive regulation of amyloid-beta formation  positive regulation of amyloid-beta formation  positive regulation of amyloid precursor protein catabolic process  positive regulation of amyloid precursor protein catabolic process  regulation of protein localization to cell periphery  negative regulation of low-density lipoprotein receptor activity  negative regulation of receptor-mediated endocytosis involved in cholesterol transport  regulation of protein localization to cell surface  
Ontology : EGO-EBInucleotide binding  lipid transporter activity  ATP binding  ATP binding  lysosome  lysosomal membrane  endosome  microtubule organizing center  plasma membrane  regulation of transcription by RNA polymerase II  lipid metabolic process  lipid transport  locomotory behavior  endosome membrane  regulation of cholesterol esterification  membrane  integral component of membrane  integral component of membrane  ATPase activity  cytoplasmic vesicle  central nervous system myelin formation  regulation of intracellular cholesterol transport  negative regulation of intracellular cholesterol transport  positive regulation of low-density lipoprotein particle receptor catabolic process  response to drug  ATPase activity, coupled to transmembrane movement of substances  ATPase activity, coupled to transmembrane movement of substances  cholesterol homeostasis  positive regulation of amyloid precursor protein biosynthetic process  ATP-binding cassette (ABC) transporter complex  intracellular membrane-bounded organelle  regulation of cholesterol biosynthetic process  sphingosine biosynthetic process  response to steroid hormone  regulation of endopeptidase activity  transmembrane transport  regulation of protein glycosylation  endopeptidase regulator activity  response to cholesterol  negative regulation of phospholipid biosynthetic process  negative regulation of sphingolipid biosynthetic process  cellular sphingolipid homeostasis  negative regulation of cholesterol efflux  ceramide-translocating ATPase activity  ceramide translocation  regulation of post-translational protein modification  positive regulation of amyloid-beta formation  positive regulation of amyloid-beta formation  positive regulation of amyloid precursor protein catabolic process  positive regulation of amyloid precursor protein catabolic process  regulation of protein localization to cell periphery  negative regulation of low-density lipoprotein receptor activity  negative regulation of receptor-mediated endocytosis involved in cholesterol transport  regulation of protein localization to cell surface  
Pathways : KEGGABC transporters    Lysosome   
NDEx NetworkABCA2
Atlas of Cancer Signalling NetworkABCA2
Wikipedia pathwaysABCA2
Orthology - Evolution
OrthoDB20
GeneTree (enSembl)ENSG00000107331
Phylogenetic Trees/Animal Genes : TreeFamABCA2
HOGENOMQ9BZC7
Homologs : HomoloGeneABCA2
Homology/Alignments : Family Browser (UCSC)ABCA2
Gene fusions - Rearrangements
Fusion : MitelmanABCA2/TRIM14 [9q34.3/9q22.33]  
Fusion : MitelmanFLNA/ABCA2 [Xq28/9q34.3]  
Fusion PortalABCA2 9q34.3 TRIM14 9q22.33 LGG
Fusion : QuiverABCA2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCA2
dbVarABCA2
ClinVarABCA2
1000_GenomesABCA2 
Exome Variant ServerABCA2
GNOMAD BrowserENSG00000107331
Varsome BrowserABCA2
Genetic variants : HAPMAP20
Genomic Variants (DGV)ABCA2 [DGVbeta]
DECIPHERABCA2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCA2 
Mutations
ICGC Data PortalABCA2 
TCGA Data PortalABCA2 
Broad Tumor PortalABCA2
OASIS PortalABCA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCA2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DABCA2
Mutations and Diseases : HGMDABCA2
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 ABCA2
DgiDB (Drug Gene Interaction Database)ABCA2
DoCM (Curated mutations)ABCA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCA2 (select a term)
intoGenABCA2
Cancer3DABCA2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600047    618808   
Orphanet
DisGeNETABCA2
MedgenABCA2
Genetic Testing Registry ABCA2
NextProtQ9BZC7 [Medical]
TSGene20
GENETestsABCA2
Target ValidationABCA2
Huge Navigator ABCA2 [HugePedia]
snp3D : Map Gene to Disease20
BioCentury BCIQABCA2
ClinGenABCA2
Clinical trials, drugs, therapy
Protein Interactions : CTD20
Pharm GKB GenePA24377
Clinical trialABCA2
Miscellaneous
canSAR (ICR)ABCA2 (select the gene name)
HarmonizomeABCA2
DataMed IndexABCA2
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCA2
EVEXABCA2
GoPubMedABCA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jul 16 15:01:36 CEST 2020

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