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ABCG8 Gene

protein-coding   GIFtS: 61
GCID: GC02P044066

ATP-Binding Cassette, Sub-Family G (WHITE), Member 8

(Previous names: ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATP-Binding Cassette, Sub-Family G (WHITE), Member 81 2     STSL2
Sterolin 21 2     ATP-Binding Cassette Sub-Family G Member 82
GBD42 5     ATP-Binding Cassette, Subfamily G, Member 82
ATP-Binding Cassette, Sub-Family G (WHITE), Member 8 (Sterolin 2)1     sterolin-22
Gallbladder Disease 41     Sterolin-23

External Ids:    HGNC: 138871   Entrez Gene: 642412   Ensembl: ENSG000001439217   OMIM: 6054605   UniProtKB: Q9H2213   

Export aliases for ABCG8 gene to outside databases

Previous GC identifers: GC02P044065 GC02P044234 GC02P044040 GC02P043977 GC02P043802


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ABCG8 Gene:
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 gene functions to exclude non-cholesterol sterol entry at the intestinal
level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into
the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This
gene 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 been observed in patients with
sitosterolemia. (provided by RefSeq, Jul 2008)

GeneCards Summary for ABCG8 Gene:
ABCG8 (ATP-binding cassette, sub-family G (WHITE), member 8) is a protein-coding gene. Diseases associated with ABCG8 include gallbladder disease 4, and gallbladder disease. GO annotations related to this gene include cholesterol transporter activity and protein heterodimerization activity. An important paralog of this gene is ABCG1.

UniProtKB/Swiss-Prot: ABCG8_HUMAN, Q9H221
Function: Transporter that appears to play an indispensable role in the selective transport of the dietary
cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile

Gene Wiki entry for ABCG8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCG8 gene promoter:
         SRF   AML1a   HOXA3   SRF (504 AA)   Evi-1   PPAR-alpha   POU2F1   POU2F1a   c-Myb   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCG8 promoter sequence
   Search Chromatin IP Primers for ABCG8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCG8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
ABCG8 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P044066:  view genomic region     (about GC identifiers)

Start:
44,066,103 bp from pter      End:
44,105,605 bp from pter
Size:
39,503 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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 regulating diatery-sterol
absorption and excretion
Caution: Seems to have a defective ATP-binding region
Secondary accessions: Q53QN8
Alternative splicing: 2 isoforms:  Q9H221-1   Q9H221-2   (Minor form detected in approximately 10% of the cDNA clones)

Explore the universe of human proteins at neXtProt for ABCG8: NX_Q9H221

Explore proteomics data for ABCG8 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn619
  • Modification sites at PhosphoSitePlus

  • See ABCG8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071882.1  
    ENSEMBL proteins: 
     ENSP00000272286  
    Reactome Protein details: Q9H221

    ABCG8 Human Recombinant Protein Products:

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    ABCG8 Assay Products:

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    Cloud-Clone Corp. CLIAs for ABCG8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ABCG: ATP binding cassette transporters / subfamily G

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCG8
    ABCG subfamily

    4 InterPro protein domains:
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR013525 ABC_2_trans
     IPR017871 ABC_transporter_CS

    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 superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204)
    subfamily
    Similarity: Contains 1 ABC transmembrane type-2 domain
    Similarity: Contains 1 ABC transporter domain


    ABCG8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCG8_HUMAN, Q9H221
    Function: Transporter that appears to play an indispensable role in the selective transport of the dietary
    cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16870176
    GO:0005524contributes to ATP binding IDA16893193
    GO:0015248sterol transporter activity ----
    GO:0016887contributes to ATPase activity IDA16893193
    GO:0017127contributes to cholesterol transporter activity IGI14504269
         
    ABCG8 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ABCG8:
     Decreased POU5F1-GFP protein e  Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Abcg8):
     digestive/alimentary  hematopoietic system  homeostasis/metabolism  liver/biliary system 

    ABCG8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ABCG8: Abcg5/Abcg8Abcg5/tm1Hobb Abcg8tm1Elk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCG8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ABCG8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCG8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCG8

    miRNA
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    miRTarBase miRNAs that target ABCG8:
    hsa-mir-124-3p (MIRT022678), hsa-mir-335-5p (MIRT017992)

    Block miRNA regulation of human, mouse, rat ABCG8 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate ABCG8:
    hsa-miR-511 hsa-miR-1184 hsa-miR-509-5p hsa-miR-4252 hsa-miR-1914 hsa-miR-509-3-5p hsa-miR-1227
    SwitchGear 3'UTR luciferase reporter plasmidABCG8 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ABCG8

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    GenScript: all cDNA clones in your preferred vector: ABCG8 (NM_022437)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCG8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ABCG8_HUMAN, Q9H221: Membrane; Multi-pass membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    extracellular2
    peroxisome2
    cytosol1
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0016324apical plasma membrane IMP14504269

    ABCG8 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ABCG8 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.69
    ABCA transporters in lipid homeostasis0.00
    ABC transporters0.69
    2Statin Pathway
    Statin Pathway0.73
    Statin Pathway, Pharmacodynamics0.73
    3Vitamin A and carotenoid metabolism
    Vitamin A and carotenoid metabolism
    Trafficking of dietary sterols0.00
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    5Lipoprotein metabolism
    Lipid digestion, mobilization, and transport0.59

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ABCG8
        Vitamin A and carotenoid metabolism
    Statin Pathway

    2 Reactome Pathways for ABCG8
        ABCA transporters in lipid homeostasis
    Trafficking of dietary sterols

    1 PharmGKB Pathway for ABCG8
        Statin Pathway, Pharmacodynamics

    3 Kegg Pathways  (Kegg details for ABCG8):
        ABC transporters
    Fat digestion and absorption
    Bile secretion


    ABCG8 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCG8: 
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ABCG8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ABCG8 (Q9H2211, 2, 3 ENSP000002722864) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCG5Q9H2221, 2, 3, ENSP000002606454EBI-3908684,EBI-1761423 MINT-2840569 MINT-2840517 I2D: score=3 STRING: ENSP00000260645
    ABCC12ENSP000003110304STRING: ENSP00000311030
    ABCC5ENSP000003339264STRING: ENSP00000333926
    CBX8ENSP000002693854STRING: ENSP00000269385
    CSTF3ENSP000003157914STRING: ENSP00000315791
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA16893193
    GO:0007584response to nutrient IEA--
    GO:0007588excretion IGI14504269
    GO:0010949negative regulation of intestinal phytosterol absorption IMP11099417
    GO:0015914phospholipid transport IEA--

    ABCG8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ABCG8

    10 Novoseek inferred chemical compound relationships for ABCG8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sterol 89.2 49 15520451 (3), 15044450 (3), 15860120 (2), 12208868 (2) (see all 31)
    sitosterol 83.9 5 15040800 (2), 12488046 (1), 15331430 (1)
    lathosterol 80.7 2 15331430 (1), 15210841 (1)
    ezetimibe 78.7 2 15737409 (1), 19013286 (1)
    cholesterol 74.7 88 15175352 (4), 19019257 (4), 18581044 (3), 16250035 (3) (see all 45)
    cholestanol 52.9 1 15175352 (1)
    atp 44.6 18 11668628 (2), 16893193 (2), 14657202 (1), 15121760 (1) (see all 14)
    lipid 31.8 6 15311998 (1), 15860120 (1), 17098593 (1), 16980816 (1) (see all 5)
    phospholipid 4.5 1 16250035 (1)
    glucose 0 1 17543849 (1)



    ABCG8 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ABCG8 gene: 
    NM_022437.2  

    Unigene Cluster for ABCG8:

    ATP-binding cassette, sub-family G (WHITE), member 8
    Hs.413931  [show with all ESTs]
    Unigene Representative Sequence: NM_022437
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000272286(uc002rtq.3 uc010yoa.2)
    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate ABCG8:
    hsa-miR-511 hsa-miR-1184 hsa-miR-509-5p hsa-miR-4252 hsa-miR-1914 hsa-miR-509-3-5p hsa-miR-1227
    SwitchGear 3'UTR luciferase reporter plasmidABCG8 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF320294.1 AF324494.1 BC113657.1 BC143564.1 

    3 DOTS entries:

    DT.97830216  DT.102880  DT.75131703 

    21 AceView cDNA sequences:

    NM_022437 AF320294 AF324494 BX482362 CB162405 BX481838 AA034046 H55780 
    AA033788 BX096032 AA700584 AA701645 R89160 BX109661 R89063 T84531 
    H60686 T91380 H55873 H59871 R00110 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ABCG8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTCCAAAA
    ABCG8 Expression
    About this image

    ABCG8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCG8 Protein Expression

    SOURCE 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

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCG8: 
              Drug Transporters in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCG8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ABCG8 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcg81 , 5 ATP-binding cassette, sub-family G (WHITE), member more1, 5 82.09(n)1
    81.85(a)1
      17 (55.02 cM)5
    674701  NM_026180.31  NP_080456.11 
     846763025 
    chicken
    (Gallus gallus)
    Aves ABCG81 ATP-binding cassette, sub-family G (WHITE), member more 65.58(n)
    66.72(a)
      421402  XM_419458.4  XP_419458.4 
    lizard
    (Anolis carolinensis)
    Reptilia ABCG86
    ATP-binding cassette, sub-family G (WHITE), member...
    61(a)
    1 ↔ 1
    GL343231.1(1808938-1827353)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia abcg81 ATP-binding cassette, sub-family G (WHITE), member more 64.14(n)
    64.14(a)
      100498405  XM_002932391.2  XP_002932437.2 
    zebrafish
    (Danio rerio)
    Actinopterygii abcg81 ATP-binding cassette, sub-family G (WHITE), member more 62.71(n)
    62.25(a)
      100136850  NM_001114569.2  NP_001108041.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta E233 ATP-binding cassette (ABC) transporter 38(a)
    (best of 3)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea C16C10.123 ATP binding transport protein (White
    protein)
    26(a)
    (best of 2)
      III(4219253-4223338)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YOL075C1 YOL075C 42.24(n)
    32.87(a)
      854080   NP_014567.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G013201 AT2G01320 42.66(n)
    32.63(a)
      814660  NM_126193.2  NP_178241.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g01217001 Os01g0121700 42.59(n)
    33.27(a)
      4326045  NM_001048413.1  NP_001041878.1 


    ENSEMBL Gene Tree for ABCG8 (if available)
    TreeFam Gene Tree for ABCG8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCG8 gene
    ABCG12  ABCG52  ABCG42  ABCG22  
    2 SIMAP similar genes for ABCG8 using alignment to 4 protein entries:     ABCG8_HUMAN (see all proteins):
    ABCG2    ABCG5

    ABCG8 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ABCG8
    PGOHUM00000235393


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ABCG8 (see all 1437)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378529901,2,,4
    CSitosterolemia (STSL)4 pathogenic143949372(+) CAACCA/GGCTGG 2 Q R mis10--------
    rs2016906541,2,,4
    CSitosterolemia (STSL)4 --43971968(+) TGCAGG/TATTAT 2 R S mis10--------
    VAR_0122634
    Sitosterolemia (STSL)4--see VAR_0122632 G E mis40--------
    VAR_0122624
    Sitosterolemia (STSL)4--see VAR_0122622 L P mis40--------
    VAR_0122524
    Sitosterolemia (STSL)4--see VAR_0122522 R H mis40--------
    VAR_0122644
    Sitosterolemia (STSL)4--see VAR_0122642 G R mis40--------
    VAR_0122584
    Sitosterolemia (STSL)4--see VAR_0122582 R H mis40--------
    VAR_0122534
    Sitosterolemia (STSL)4--see VAR_0122532 P T mis40--------
    VAR_0122664
    Sitosterolemia (STSL)4--see VAR_0122662 L R mis40--------
    VAR_0122594
    Sitosterolemia (STSL)4--see VAR_0122592 L P mis40--------

    HapMap Linkage Disequilibrium report for ABCG8 (44066103 - 44105605 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ABCG8 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672341CNV Deletion23128226
    dgv695e199CNV Deletion23128226
    esv2719996CNV Deletion23290073
    esv2662610CNV Deletion23128226
    esv274645CNV Insertion20981092
    esv267396CNV Insertion20981092
    nsv519633CNV Loss19592680
    dgv216n21CNV Loss19592680
    nsv516120CNV Loss19592680
    nsv873981CNV Loss21882294

    Human Gene Mutation Database (HGMD): ABCG8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCG8
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCG8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605460   
    OMIM disorders: 210250  611465  
    UniProtKB/Swiss-Prot: ABCG8_HUMAN, Q9H221
  • Gallbladder disease 4 (GBD4) [MIM:611465]: One of the major digestive diseases. Gallstones composed of
    cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones,
    however, remain asymptomatic through their lifetimes. Note=Disease susceptibility may be associated with
    variations affecting the gene represented in this entry
  • Sitosterolemia (STSL) [MIM:210250]: Rare autosomal recessive disorder characterized by increased
    intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary
    excretion of dietary sterols into bile. Sitosterolemia patients have hypercholesterolemia, very high levels of
    plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis
    and premature coronary artery disease. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • Selected diseases for ABCG8 (see all 23):    
    About MalaCards
    gallbladder disease 4    gallbladder disease    sitosterolemia    aortic atherosclerosis
    atherosclerosis    hypercholesterolemia    familial hypercholesterolemia    gallbladder cancer
    cholelithiasis    thrombocytopenia    vascular disease    lung cancer susceptibility
    coronary heart disease    coronary artery disease    kidney disease    insulin resistance
    hypertension    colorectal cancer    lung cancer    hepatitis

    2 diseases from the University of Copenhagen DISEASES database for ABCG8:
    Cholelithiasis     Atherosclerosis

    ABCG8 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for ABCG8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sitosterolemia 97.6 36 15040800 (4), 11668628 (3), 11893785 (1), 11907139 (1) (see all 26)
    hypercholesterolemia 61.3 6 19012522 (2), 18522623 (1), 15175362 (1), 17483372 (1) (see all 5)
    atherosclerosis 41.6 6 15044450 (2), 18977479 (1), 15175362 (1), 16893193 (1) (see all 5)
    cardiovascular diseases 11.2 1 18977479 (1)

    Genetic Association Database (GAD): ABCG8
    Human Genome Epidemiology (HuGE) Navigator: ABCG8 (58 documents)

    Export disorders for ABCG8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ABCG8 gene, integrated from 10 sources (see all 163):
    (articles sorted by number of sources associating them with ABCG8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol. (PubMed id 17626266)1, 3, 4, 9 GrA1nhage F....Lammert F. (Hepatology 2007)
    2. A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. (PubMed id 17632509)1, 2, 4 Buch S....Hampe J. (Nat. Genet. 2007)
    3. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. (PubMed id 11099417)1, 2, 3 Berge K.E.... Hobbs H.H. (Science 2000)
    4. 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, 2, 9 Lu K....Patel S.B. (Am. J. Hum. Genet. 2001)
    5. Long-term consumption of plant stanol and sterol esters, vascular function and genetic regulation. (PubMed id 19019257)1, 4, 9 Gylling H....Miettinen T.A. (Br. J. Nutr. 2009)
    6. ABCG8 gene polymorphisms, plasma cholesterol concentrations, and risk of cardiovascular disease in familial hypercholesterolemia. (PubMed id 18977479)1, 4, 9 Koeijvoets K.C....Plat J. (Atherosclerosis 2009)
    7. Significant association of ABCG8:D19H gene polymorphism with hypercholesterolemia and insulin resistance. (PubMed id 18581044)1, 4, 9 Chen Z.C....Hsiao P.J. (J. Hum. Genet. 2008)
    8. Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. (PubMed id 11668628)1, 2, 9 Hubacek J.A.... Hobbs H.H. (Hum. Mutat. 2001)
    9. Single nucleotide polymorphisms in ABCG5 and ABCG8 genes in Chilean subjects with polygenic hypercholesterolemia and controls. (PubMed id 19012522)1, 4, 9 CaamaA+o J.M....Salazar L.A. (Clin. Chem. Lab. Med. 2008)
    10. Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity. (PubMed id 15175352)1, 4, 9 Gylling H....Miettinen T.A. (J. Lipid Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64241 HGNC: 13887 AceView: ABCG8 Ensembl:ENSG00000143921 euGenes: HUgn64241
    ECgene: ABCG8 Kegg: 64241 H-InvDB: ABCG8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ABCG8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ABCG8[genesymbol]
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9H221

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCG8 gene:
    Search GeneIP for patents involving ABCG8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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