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Aliases & Descriptions for ABCG8
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases GBD4 1 , 2 , 5 MGC142217 2 STSL 2 Sterolin-2 3
Descriptions ATP-binding cassette sub-family G member 8 2 ATP-binding cassette, sub-family G (WHITE), member 8 2 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2) 1 ATP-binding cassette, sub-family G, member 8 1 ATP-binding cassette, subfamily G, member 8 2 sterolin 2 2
Search outside databases for aliases for ABCG8 genePrevious GC identifers: GC02P044065 GC02P044234 GC02P044040
Summaries for ABCG8 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ABCG8 : The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC)transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes.ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20,White). This protein is a member of the White subfamily. The protein encoded by this genefunctions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion ofcholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinallumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. Thisgene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5.Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have beenobserved in patients with sitosterolemia. [provided by RefSeq] UniProtKB/Swiss-Prot: ABCG8_HUMAN, Q9H221 Function : Transporter that appears to play an indispensable role in the selective transport of thedietary cholesterol in and out of the enterocytes and in the selective sterol excretion by theliver into bile
Gene Wiki entry for ABCG8
Genomic Location for ABCG8
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ABCG8 gene Entrez Gene cytogenetic band: 2p21 Ensembl cytogenetic band: 2p21 HGNC cytogenetic band: 2p21 ABCG8 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure
GeneLoc location for GC02P043977:
(about GC identifiers )
Start:
43,919,607 bp from pter
End:
43,959,109 bp from pter
Size:
39,503 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000002.10 NT_022184.14 Proteins for ABCG8
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: ABCG8_HUMAN, Q9H221 (See
protein sequence )Recommended Name: ATP-binding cassette sub-family G member 8 Size : 673 amino acids; 75679 Da
Subunit : May form heterodimers with ABCG5 or be tightly coupled to ABCG5 along a pathway regulatingdiatery-sterol absorption and excretion
Subcellular location : Membrane; Multi-pass membrane protein (Probable)
Caution : Seems to have a defective ATP-binding region
Secondary accessions : Q53QN8Alternative splicing : 2 isoforms : Q9H221-1 Q9H221-2
REFSEQ proteins: NP_071882.1 ENSEMBL proteins: ENSP00000272286 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0016020 membrane
IEA -- GO:0016021 integral to membrane
IEA --
About this table Antibodies for ABCG8: Assays for ABCG8:
Protein
Domains/ Families for ABCG8(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q9H221 ProtoNet protein and cluster: Q9H221
UniProtKB/Swiss-Prot: ABCG8_HUMAN, Q9H221 Similarity : Belongs to the ABC transporter family. ABCG (White) subfamilySimilarity : Contains 1 ABC transmembrane type-2 domainSimilarity : Contains 1 ABC transporter domain
Gene Function for ABCG8
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022437 Applied Biosystems Silencer ® siRNAs for ABCG8 Sigma-Aldrich siRNA and siRNA Panels for ABCG8 Sigma-Aldrich shRNA for ABCG8 Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_022437                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_022437                                  untagged cDNA clone in CMV expression vector: NM_022437  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_022437 UniProtKB/Swiss-Prot: ABCG8_HUMAN, Q9H221 Function : Transporter that appears to play an indispensable role in the selective transport of thedietary cholesterol in and out of the enterocytes and in the selective sterol excretion by theliver into bile
3 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Abcg8) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for ABCG8
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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4 Sigma-Aldrich "Your Favorite Gene" Pathways for ABCG8 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for ABCG8 5/18 Interacting proteins for ABCG8 (ENSP00000272286 3 Q9H221 2 ) via UniProtKB, MINT, and/or STRING (see all 18
)About this table 4 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for ABCG8 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for ABCG8 8 Novoseek chemical compound relationships for ABCG8 gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
sterol
89.51
48
15520451 (3), 15044450 (3), 15860120 (2), 12208868 (2) (see all 30 )
lathosterol
81.99
2
15331430 (1), 15210841 (1)
cholesterol
74.23
75
15175352 (4), 18581044 (3), 16250035 (3), 18522623 (2) (see all 39 )
cholestanol
54.92
1
15175352 (1)
atp
43.18
17
11668628 (2), 16893193 (2), 14657202 (1), 15121760 (1) (see all 13 )
lipid
34.37
6
15311998 (1), 15860120 (1), 17098593 (1), 16980816 (1) (see all 5 )
phospholipid
6.69
1
16250035 (1)
glucose
0.00
1
17543849 (1)
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Transcripts for ABCG8(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022437 Sigma-Aldrich siRNA and siRNA Panels for ABCG8 Sigma-Aldrich shRNA for ABCG8 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_022437
REFSEQ mRNAs for ABCG8 gene: NM_022437.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_022437
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_022437                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_022437                                  untagged cDNA clone in CMV expression vector: NM_022437  
Additional cDNA sequence: AF320294.1 AF324494.1 BC113657.1 BC143564.1
4 DOTS entries : DT.97830216 DT.102880 DT.95201817 DT.75131703
21 AceView cDNA sequences :NM_022437 AF320294 AA700584 BX096032 AA034046 BX482362 CB162405 AF324494 H55780 BX481838 AA701645 AA033788 BX109661 R89160 R89063 T84531 H60686 T91380 H55873 H59871 R00110
highest scoring ESTs for ABCG8 :AF320294 AF324494 T91380 BX096032 BX481838 BX482362 NM_022437 R89160 T84531 AA033788
Unigene Cluster for ABCG8: ATP-binding cassette, sub-family G (WHITE), member 8 Hs.413931 [show with all ESTs ] Unigene Representative Sequence: NM_022437 GeneLoc Exon Structure 1 Ensembl transcript including schematic representation : ENST00000272286
Expression for ABCG8
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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ABCG8 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ABCG8 1 / 2 / 3
3 probe-sets matching ABCG8 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GGCTCCAAAASOURCE GeneReport for Unigene cluster: Hs.413931 UniProtKB/Swiss-Prot: ABCG8_HUMAN, Q9H221 Tissue specificity : Strongly expressed in the liver, lower levels in the small intestine and colon.Detectable in a wide variety of human tissues
Orthologs for ABCG8
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ABCG8 gene from 5/14 species (see all 14
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
ABCG81
--
ATP-binding cassette, sub-family G (WHITE), member more
84.74(n) 83.72(a)
474571 XM_531799.2 XP_531799.2
chimpanzee (Pan troglodytes)
ABCG81
--
ATP-binding cassette, sub-family G (WHITE), member more
99.36(n) 99.11(a)
470363 XM_525745.2 XP_525745.2
cow (Bos taurus)
ABCG81
--
ATP-binding cassette, sub-family G (WHITE), member more
85(n) 82.21(a)
508829 NM_001024663.1 NP_001019834.1
rat (Rattus norvegicus)
Abcg81
--
ATP-binding cassette, sub-family G (WHITE), member more
81.99(n) 79.91(a)
155192 NM_130414.2 NP_569098.2
mouse (Mus musculus)
Abcg81 , 5
17 (54.50 cM) 5
ATP-binding cassette, sub-family G (WHITE), member more 1, 5
82.09(n) 1 81.85(a) 1
67470 1 NM_026180.2 1 NP_080456.1 1 AF324495 5 AF351799 5 (see all 25 )
About this table Species with no ortholog for ABCG8 ENSEMBL Gene Tree for ABCG8 Paralogs for ABCG8 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ABCG8 gene ABCG5 2
SNPs/Variants for ABCG8 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ABCG8 (up to first 250kb)
Disorders & Mutations for ABCG8
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 605460 disorders : 210250 611465 UniProtKB/Swiss-Prot: ABCG8_HUMAN, Q9H221
Genetic variations in ABCG8 can be associated with susceptibility to gallbladder diseasetype 4 (GBD4) [MIM:611465]. With an overall prevalence of 10-20%, gallstone disease(cholelithiasis) represents one of the most frequent and economically relevant health problems ofindustrialized countries Defects in ABCG8 are a cause of sitosterolemia [MIM:210250]; also known as phytosterolemiaor shellfish sterolemia. It is a rare autosomal recessive disorder characterized by increasedintestinal absorption of all sterols including cholesterol, plant and shellfish sterols, anddecreased biliary excretion of dietary sterols into bile. Sitosterolemia patients havehypercholesterolemia, very high levels of plant sterols in the plasma, and frequently developtendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease
3 Novoseek disease relationships for ABCG8 gene
About this table Human Gene Mutation Database : ABCG8 Genetic Association Database: ABCG8 Human Genome Epidemiology Navigator: ABCG8 (28 documents)
Medical News for ABCG8 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ABCG8 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/114 PubMed articles for ABCG8 gene (see all 114
): Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. (PubMed id 11099417) 2, 3, 4 Berge K.E.... Hobbs H.H. (2000) Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. (PubMed id 11452359) 1, 3, 4 Lu K....Patel S.B. (2001) Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. (PubMed id 11668628) 1, 3, 4 Hubacek J.A.... Hobbs H.H. (2001) Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity. (PubMed id 15175352) 1, 3, 6 Gylling H....Miettinen T.A. (2004) Common sequence variations in ABCG8 are related to plant sterol metabolism in healthy volunteers. (PubMed id 15520451) 1, 3, 6 Plat J....Mensink R.P. (2005) Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels. (PubMed id 15311998) 1, 3, 6 Hubacek J.A....Poledne R. (2004) Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol. (PubMed id 17626266) 1, 2, 3 Grunhage F....Lammert F. (2007) ATP-binding cassette transporter G8 M429V polymorphism as a novel genetic marker of higher cholesterol absorption in hypercholesterolaemic Japanese subjects. (PubMed id 15816807) 1, 3, 6 Miwa K....Mabuchi H. (2005) ATP-binding cassette transporter G8 gene as a determinant of apolipoprotein B-100 kinetics in overweight men. (PubMed id 15331430) 1, 3, 6 Chan D.C....van Bockxmeer F.M. (2004) ATP binding cassette G5 C1950G polymorphism may affect blood cholesterol concentrations in humans. (PubMed id 12220438) 1, 3, 6 Weggemans R.M....Katan M.B. (2002)
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Genome Databases showing ABCG8
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ABCG8
(According to HUGE )
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--
Specialized Databases showing ABCG8 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=ABCG8
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-- Services for ABCG8 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for ABCG8:
Search Tocris compounds for ABCG8
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Proteins for ABCG8
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009