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ABCG8 (ATP-binding cassette, sub-family G (WHITE), member 8)

Identity

Other namesGBD4
STSL
HGNC (Hugo) ABCG8
LocusID (NCBI) 64241
Location 2p21
Location_base_pair Starts at 44066103 and ends at 44105605 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)ABCG8   13887
Cards
Entrez_Gene (NCBI)ABCG8  64241  ATP-binding cassette, sub-family G (WHITE), member 8
GeneCards (Weizmann)ABCG8
Ensembl hg19 (Hinxton)ENSG00000143921 [Gene_View]  chr2:44066103-44105605 [Contig_View]  ABCG8 [Vega]
Ensembl hg38 (Hinxton)ENSG00000143921 [Gene_View]  chr2:44066103-44105605 [Contig_View]  ABCG8 [Vega]
ICGC DataPortalENSG00000143921
cBioPortalABCG8
AceView (NCBI)ABCG8
Genatlas (Paris)ABCG8
WikiGenes64241
SOURCE (Princeton)ABCG8
Genomic and cartography
GoldenPath hg19 (UCSC)ABCG8  -     chr2:44066103-44105605 +  2p21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ABCG8  -     2p21   [Description]    (hg38-Dec_2013)
EnsemblABCG8 - 2p21 [CytoView hg19]  ABCG8 - 2p21 [CytoView hg38]
Mapping of homologs : NCBIABCG8 [Mapview hg19]  ABCG8 [Mapview hg38]
OMIM210250   605460   611465   
Gene and transcription
Genbank (Entrez)AF320294 AF324494 BC113657 BC143564 HQ258492
RefSeq transcript (Entrez)NM_022437
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_008884 NT_022184 NW_001838769 NW_004929300
Consensus coding sequences : CCDS (NCBI)ABCG8
Cluster EST : UnigeneHs.413931 [ NCBI ]
CGAP (NCI)Hs.413931
Alternative Splicing : Fast-db (Paris)GSHG0016415
Alternative Splicing GalleryENSG00000143921
Gene ExpressionABCG8 [ NCBI-GEO ]     ABCG8 [ SEEK ]   ABCG8 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H221 (Uniprot)
NextProtQ9H221  [Medical]
With graphics : InterProQ9H221
Splice isoforms : SwissVarQ9H221 (Swissvar)
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)ABC_2_trans    ABC_transporter-like    ABC_transporter_CS    P-loop_NTPase   
Related proteins : CluSTrQ9H221
Domain families : Pfam (Sanger)ABC2_membrane (PF01061)    ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam01061    pfam00005   
DMDM Disease mutations64241
Blocks (Seattle)Q9H221
Human Protein AtlasENSG00000143921
Peptide AtlasQ9H221
HPRD05679
IPIIPI00007840   IPI00218892   
Protein Interaction databases
DIP (DOE-UCLA)Q9H221
IntAct (EBI)Q9H221
FunCoupENSG00000143921
BioGRIDABCG8
IntegromeDBABCG8
STRING (EMBL)ABCG8
Ontologies - Pathways
QuickGOQ9H221
Ontology : AmiGOprotein binding  ATP binding  plasma membrane  ATP catabolic process  ATP catabolic process  response to nutrient  excretion  negative regulation of intestinal phytosterol absorption  phospholipid transport  sterol transport  integral component of membrane  apical plasma membrane  ATPase activity  cholesterol transporter activity  intestinal cholesterol absorption  cholesterol efflux  response to drug  cholesterol homeostasis  small molecule metabolic process  negative regulation of intestinal cholesterol absorption  protein heterodimerization activity  transmembrane transport  
Ontology : EGO-EBIprotein binding  ATP binding  plasma membrane  ATP catabolic process  ATP catabolic process  response to nutrient  excretion  negative regulation of intestinal phytosterol absorption  phospholipid transport  sterol transport  integral component of membrane  apical plasma membrane  ATPase activity  cholesterol transporter activity  intestinal cholesterol absorption  cholesterol efflux  response to drug  cholesterol homeostasis  small molecule metabolic process  negative regulation of intestinal cholesterol absorption  protein heterodimerization activity  transmembrane transport  
Pathways : KEGGABC transporters    Fat digestion and absorption    Bile secretion   
Protein Interaction DatabaseABCG8
DoCM (Curated mutations)ABCG8
Wikipedia pathwaysABCG8
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerABCG8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCG8
dbVarABCG8
ClinVarABCG8
1000_GenomesABCG8 
Exome Variant ServerABCG8
SNP (GeneSNP Utah)ABCG8
SNP : HGBaseABCG8
Genetic variants : HAPMAPABCG8
Genomic VariantsABCG8  ABCG8 [DGVbeta]
Mutations
ICGC Data PortalENSG00000143921 
Somatic Mutations in Cancer : COSMICABCG8 
CONAN: Copy Number AnalysisABCG8 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:44066103-44105605
Mutations and Diseases : HGMDABCG8
OMIM210250    605460    611465   
MedgenABCG8
NextProtQ9H221 [Medical]
GENETestsABCG8
Disease Genetic AssociationABCG8
Huge Navigator ABCG8 [HugePedia]  ABCG8 [HugeCancerGEM]
snp3D : Map Gene to Disease64241
DGIdb (Drug Gene Interaction db)ABCG8
General knowledge
Homologs : HomoloGeneABCG8
Homology/Alignments : Family Browser (UCSC)ABCG8
Phylogenetic Trees/Animal Genes : TreeFamABCG8
Chemical/Protein Interactions : CTD64241
Chemical/Pharm GKB GenePA24412
Clinical trialABCG8
Cancer Resource (Charite)ENSG00000143921
Other databases
Probes
Litterature
PubMed98 Pubmed reference(s) in Entrez
CoreMineABCG8
GoPubMedABCG8
iHOPABCG8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 19:58:31 CET 2014

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