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ABCA8 (ATP binding cassette subfamily A member 8)

Identity

Alias (NCBI)-
HGNC (Hugo) ABCA8
HGNC Alias symbKIAA0822
HGNC Previous nameATP-binding cassette, sub-family A (ABC1), member 8
LocusID (NCBI) 10351
Atlas_Id 56940
Location 17q24.2  [Link to chromosome band 17q24]
Location_base_pair Starts at 68867290 and ends at 68955392 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)
ABCA8 (17q24.2) / HMGCS1 (5p12)BCAS3 (17q23.2) / ABCA8 (17q24.2)GOLGA2 (9q34.11) / ABCA8 (17q24.2)
LOC100131564 () / ABCA8 (17q24.2)RAC3 (17q25.3) / ABCA8 (17q24.2)SKIV2L (6p21.33) / ABCA8 (17q24.2)

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)ABCA8   38
Cards
Entrez_Gene (NCBI)ABCA8    ATP binding cassette subfamily A member 8
Aliases
GeneCards (Weizmann)ABCA8
Ensembl hg19 (Hinxton)ENSG00000141338 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141338 [Gene_View]  ENSG00000141338 [Sequence]  chr17:68867290-68955392 [Contig_View]  ABCA8 [Vega]
ICGC DataPortalENSG00000141338
TCGA cBioPortalABCA8
AceView (NCBI)ABCA8
Genatlas (Paris)ABCA8
SOURCE (Princeton)ABCA8
Genetics Home Reference (NIH)ABCA8
Genomic and cartography
GoldenPath hg38 (UCSC)ABCA8  -     chr17:68867290-68955392 -  17q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCA8  -     17q24.2   [Description]    (hg19-Feb_2009)
GoldenPathABCA8 - 17q24.2 [CytoView hg19]  ABCA8 - 17q24.2 [CytoView hg38]
ImmunoBaseENSG00000141338
Genome Data Viewer NCBIABCA8 [Mapview hg19]  
OMIM612505   
Gene and transcription
Genbank (Entrez)AA448212 AB020629 AK090894 AK295876 AK304286
RefSeq transcript (Entrez)NM_001288985 NM_001288986 NM_001375771 NM_001375772 NM_007168
Consensus coding sequences : CCDS (NCBI)ABCA8
Gene ExpressionABCA8 [ NCBI-GEO ]   ABCA8 [ EBI - ARRAY_EXPRESS ]   ABCA8 [ SEEK ]   ABCA8 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCA8 [ Firebrowse - Broad ]
GenevisibleExpression of ABCA8 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10351
GTEX Portal (Tissue expression)ABCA8
Human Protein AtlasENSG00000141338-ABCA8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94911   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94911  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94911
PhosPhoSitePlusO94911
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC_transporter-like    ABCA    ABCA8    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCA8
SuperfamilyO94911
AlphaFold pdb e-kbO94911   
Human Protein Atlas [tissue]ENSG00000141338-ABCA8 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)O94911
IntAct (EBI)O94911
BioGRIDABCA8
STRING (EMBL)ABCA8
ZODIACABCA8
Ontologies - Pathways
QuickGOO94911
Ontology : AmiGOlipid transporter activity  ATP binding  endoplasmic reticulum  plasma membrane  plasma membrane  sphingomyelin biosynthetic process  lipid transport  ABC-type xenobiotic transporter activity  regulation of cholesterol efflux  positive regulation of cholesterol efflux  integral component of membrane  basolateral plasma membrane  cholesterol transport  cholesterol efflux  ATPase-coupled transmembrane transporter activity  ATPase-coupled transmembrane transporter activity  xenobiotic transport  intracellular membrane-bounded organelle  transmembrane transport  ABC-type transporter activity  
Ontology : EGO-EBIlipid transporter activity  ATP binding  endoplasmic reticulum  plasma membrane  plasma membrane  sphingomyelin biosynthetic process  lipid transport  ABC-type xenobiotic transporter activity  regulation of cholesterol efflux  positive regulation of cholesterol efflux  integral component of membrane  basolateral plasma membrane  cholesterol transport  cholesterol efflux  ATPase-coupled transmembrane transporter activity  ATPase-coupled transmembrane transporter activity  xenobiotic transport  intracellular membrane-bounded organelle  transmembrane transport  ABC-type transporter activity  
Pathways : KEGGABC transporters   
NDEx NetworkABCA8
Atlas of Cancer Signalling NetworkABCA8
Wikipedia pathwaysABCA8
Orthology - Evolution
OrthoDB10351
GeneTree (enSembl)ENSG00000141338
Phylogenetic Trees/Animal Genes : TreeFamABCA8
Homologs : HomoloGeneABCA8
Homology/Alignments : Family Browser (UCSC)ABCA8
Gene fusions - Rearrangements
Fusion : QuiverABCA8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCA8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCA8
dbVarABCA8
ClinVarABCA8
MonarchABCA8
1000_GenomesABCA8 
Exome Variant ServerABCA8
GNOMAD BrowserENSG00000141338
Varsome BrowserABCA8
ACMGABCA8 variants
VarityO94911
Genomic Variants (DGV)ABCA8 [DGVbeta]
DECIPHERABCA8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCA8 
Mutations
ICGC Data PortalABCA8 
TCGA Data PortalABCA8 
Broad Tumor PortalABCA8
OASIS PortalABCA8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCA8  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DABCA8
Mutations and Diseases : HGMDABCA8
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaABCA8
DgiDB (Drug Gene Interaction Database)ABCA8
DoCM (Curated mutations)ABCA8
CIViC (Clinical Interpretations of Variants in Cancer)ABCA8
Cancer3DABCA8
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612505   
Orphanet
DisGeNETABCA8
MedgenABCA8
Genetic Testing Registry ABCA8
NextProtO94911 [Medical]
GENETestsABCA8
Target ValidationABCA8
Huge Navigator ABCA8 [HugePedia]
ClinGenABCA8
Clinical trials, drugs, therapy
MyCancerGenomeABCA8
Protein Interactions : CTDABCA8
Pharm GKB GenePA24383
PharosO94911
Clinical trialABCA8
Miscellaneous
canSAR (ICR)ABCA8
HarmonizomeABCA8
DataMed IndexABCA8
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXABCA8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 14:58:00 CEST 2021

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