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ABCA2 (ATP binding cassette subfamily A member 2)

Identity

Alias_namesABC2
ATP-binding cassette
Other alias
HGNC (Hugo) ABCA2
LocusID (NCBI) 20
Atlas_Id 52071
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 137007234 and ends at 137028288 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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

 


External links

Nomenclature
HGNC (Hugo)ABCA2   32
Cards
Entrez_Gene (NCBI)ABCA2  20  ATP binding cassette subfamily A member 2
AliasesABC2
GeneCards (Weizmann)ABCA2
Ensembl hg19 (Hinxton)ENSG00000107331 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107331 [Gene_View]  chr9:137007234-137028288 [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  -     chr9:137007234-137028288 -  9q34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCA2  -     9q34.3   [Description]    (hg19-Feb_2009)
EnsemblABCA2 - 9q34.3 [CytoView hg19]  ABCA2 - 9q34.3 [CytoView hg38]
Mapping of homologs : NCBIABCA2 [Mapview hg19]  ABCA2 [Mapview hg38]
OMIM600047   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001606 NM_212533
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCA2
Cluster EST : UnigeneHs.421202 [ NCBI ]
CGAP (NCI)Hs.421202
Alternative Splicing GalleryENSG00000107331
Gene ExpressionABCA2 [ NCBI-GEO ]   ABCA2 [ EBI - ARRAY_EXPRESS ]   ABCA2 [ SEEK ]   ABCA2 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)20
GTEX Portal (Tissue expression)ABCA2
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_A    ABC_transporter-like    ABC_transporter_CS    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 AtlasENSG00000107331
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  ATP binding  ATP binding  lysosome  lysosomal membrane  endosome  microtubule organizing center  regulation of transcription from RNA polymerase II promoter  lipid metabolic process  transport  endosome membrane  membrane  integral component of membrane  integral component of membrane  ATPase activity  cytoplasmic vesicle  regulation of intracellular cholesterol transport  response to drug  ATPase activity, coupled to transmembrane movement of substances  ATPase activity, coupled to transmembrane movement of substances  cholesterol homeostasis  ATP-binding cassette (ABC) transporter complex  response to steroid hormone  transmembrane transport  
Ontology : EGO-EBInucleotide binding  ATP binding  ATP binding  lysosome  lysosomal membrane  endosome  microtubule organizing center  regulation of transcription from RNA polymerase II promoter  lipid metabolic process  transport  endosome membrane  membrane  integral component of membrane  integral component of membrane  ATPase activity  cytoplasmic vesicle  regulation of intracellular cholesterol transport  response to drug  ATPase activity, coupled to transmembrane movement of substances  ATPase activity, coupled to transmembrane movement of substances  cholesterol homeostasis  ATP-binding cassette (ABC) transporter complex  response to steroid hormone  transmembrane transport  
Pathways : KEGGABC transporters    Lysosome   
NDEx NetworkABCA2
Atlas of Cancer Signalling NetworkABCA2
Wikipedia pathwaysABCA2
Orthology - Evolution
OrthoDB20
GeneTree (enSembl)ENSG00000107331
Phylogenetic Trees/Animal Genes : TreeFamABCA2
HOVERGENQ9BZC7
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]  [t(X;9)(q28;q34)]  
Fusion: TCGAABCA2 9q34.3 TRIM14 9q22.33 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCA2
dbVarABCA2
ClinVarABCA2
1000_GenomesABCA2 
Exome Variant ServerABCA2
ExAC (Exome Aggregation Consortium)ABCA2 (select the gene name)
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600047   
Orphanet
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
Chemical/Protein Interactions : CTD20
Chemical/Pharm GKB GenePA24377
Clinical trialABCA2
Miscellaneous
canSAR (ICR)ABCA2 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCA2
EVEXABCA2
GoPubMedABCA2
iHOPABCA2
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 12:22:16 CEST 2017

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