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ABCA9 (ATP-binding cassette, sub-family A (ABC1), member 9)

Identity

Alias_namesATP-binding cassette, sub-family A (ABC1), member 9
Alias_symbol (synonym)EST640918
Other alias
HGNC (Hugo) ABCA9
LocusID (NCBI) 10350
Atlas_Id 60034
Location 17q24.2  [Link to chromosome band 17q24]
Location_base_pair Starts at 66970773 and ends at 67057136 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MED13 (17q23.2) / ABCA9 (17q24.2)SOBP (6q21) / ABCA9 (17q24.2)MED13 ABCA9
SOBP ABCA9

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)ABCA9   39
Cards
Entrez_Gene (NCBI)ABCA9  10350  ATP-binding cassette, sub-family A (ABC1), member 9
AliasesEST640918
GeneCards (Weizmann)ABCA9
Ensembl hg19 (Hinxton)ENSG00000154258 [Gene_View]  chr17:66970773-67057136 [Contig_View]  ABCA9 [Vega]
Ensembl hg38 (Hinxton)ENSG00000154258 [Gene_View]  chr17:66970773-67057136 [Contig_View]  ABCA9 [Vega]
ICGC DataPortalENSG00000154258
TCGA cBioPortalABCA9
AceView (NCBI)ABCA9
Genatlas (Paris)ABCA9
WikiGenes10350
SOURCE (Princeton)ABCA9
Genetics Home Reference (NIH)ABCA9
Genomic and cartography
GoldenPath hg19 (UCSC)ABCA9  -     chr17:66970773-67057136 -  17q24.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ABCA9  -     17q24.2   [Description]    (hg38-Dec_2013)
EnsemblABCA9 - 17q24.2 [CytoView hg19]  ABCA9 - 17q24.2 [CytoView hg38]
Mapping of homologs : NCBIABCA9 [Mapview hg19]  ABCA9 [Mapview hg38]
OMIM612507   
Gene and transcription
Genbank (Entrez)AF423307 AK057068 AK074491 AK122687 AL833712
RefSeq transcript (Entrez)NM_080283 NM_172386
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)ABCA9
Cluster EST : UnigeneHs.131686 [ NCBI ]
CGAP (NCI)Hs.131686
Alternative Splicing GalleryENSG00000154258
Gene ExpressionABCA9 [ NCBI-GEO ]   ABCA9 [ EBI - ARRAY_EXPRESS ]   ABCA9 [ SEEK ]   ABCA9 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCA9 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10350
GTEX Portal (Tissue expression)ABCA9
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IUA7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IUA7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IUA7
Splice isoforms : SwissVarQ8IUA7
PhosPhoSitePlusQ8IUA7
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC_A    ABC_transporter-like    ABCA9    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCA9
DMDM Disease mutations10350
Blocks (Seattle)ABCA9
SuperfamilyQ8IUA7
Human Protein AtlasENSG00000154258
Peptide AtlasQ8IUA7
HPRD12401
IPIIPI00216702   IPI00788018   IPI00786976   IPI00375523   IPI00787019   IPI01014250   
Protein Interaction databases
DIP (DOE-UCLA)Q8IUA7
IntAct (EBI)Q8IUA7
FunCoupENSG00000154258
BioGRIDABCA9
STRING (EMBL)ABCA9
ZODIACABCA9
Ontologies - Pathways
QuickGOQ8IUA7
Ontology : AmiGOATP binding  mitochondrion  lipid transport  metabolic process  integral component of membrane  ATPase activity, coupled to transmembrane movement of substances  transmembrane transport  
Ontology : EGO-EBIATP binding  mitochondrion  lipid transport  metabolic process  integral component of membrane  ATPase activity, coupled to transmembrane movement of substances  transmembrane transport  
Pathways : KEGGABC transporters   
NDEx NetworkABCA9
Atlas of Cancer Signalling NetworkABCA9
Wikipedia pathwaysABCA9
Orthology - Evolution
OrthoDB10350
GeneTree (enSembl)ENSG00000154258
Phylogenetic Trees/Animal Genes : TreeFamABCA9
HOVERGENQ8IUA7
HOGENOMQ8IUA7
Homologs : HomoloGeneABCA9
Homology/Alignments : Family Browser (UCSC)ABCA9
Gene fusions - Rearrangements
Fusion: TCGAMED13 ABCA9
Fusion: TCGASOBP ABCA9
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCA9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCA9
dbVarABCA9
ClinVarABCA9
1000_GenomesABCA9 
Exome Variant ServerABCA9
ExAC (Exome Aggregation Consortium)ABCA9 (select the gene name)
Genetic variants : HAPMAP10350
Genomic Variants (DGV)ABCA9 [DGVbeta]
DECIPHER (Syndromes)17:66970773-67057136  ENSG00000154258
CONAN: Copy Number AnalysisABCA9 
Mutations
ICGC Data PortalABCA9 
TCGA Data PortalABCA9 
Broad Tumor PortalABCA9
OASIS PortalABCA9 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCA9  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCA9
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ABCA9
DgiDB (Drug Gene Interaction Database)ABCA9
DoCM (Curated mutations)ABCA9 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCA9 (select a term)
intoGenABCA9
Cancer3DABCA9(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612507   
Orphanet
MedgenABCA9
Genetic Testing Registry ABCA9
NextProtQ8IUA7 [Medical]
TSGene10350
GENETestsABCA9
Huge Navigator ABCA9 [HugePedia]
snp3D : Map Gene to Disease10350
BioCentury BCIQABCA9
ClinGenABCA9
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10350
Chemical/Pharm GKB GenePA24384
Clinical trialABCA9
Miscellaneous
canSAR (ICR)ABCA9 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCA9
EVEXABCA9
GoPubMedABCA9
iHOPABCA9
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:53:18 CET 2017

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