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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABCG8 Gene

protein-coding   GIFtS: 59
GCID: GC02P043977

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

(Previous names: ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin...)
 Explore 22 diseases affiliated with
ABCG8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ABCG8    

Aliases
for ABCG8 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ATP-Binding Cassette, Sub-Family G (WHITE), Member 81 2     ATP-Binding Cassette, Subfamily G, Member 82
GBD41 2 5     Sterolin 22
ATP-Binding Cassette, Sub-Family G (WHITE), Member 8 (Sterolin 2)1     Sterolin-23
STSL2     Sterolin-23
ATP-Binding Cassette Sub-Family G Member 82     

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 GC02P043802


Summaries
for ABCG8 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene 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 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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences 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 plasmid: ABCG8 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCG8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC02P043977:  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

Proteins
for ABCG8 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Membrane; Multi-pass membrane protein (Probable)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H221

    • ABCG8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_071882.1  
    ENSEMBL proteins: 
     ENSP00000272286  
    Reactome Protein details: Q9H221
    Human Recombinant Protein Products: 
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    Novus Biologicals ABCG8 Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ABCG8

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    ABCG8 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ABCG8

    Protein Domains /
    Families
    for ABCG8 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ABCG8 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR003439 ABC_transporter-like
     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


    Function
    for ABCG8 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABCG8
    7 QIAGEN miScript miRNA 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 plasmid: ABCG8 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCG8 (see all 7)
    OriGene shRNA RFP: ABCG8
    OriGene siRNA: ABCG8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCG8

    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCG8 

    Cell Line
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    Search LifeMap BioReagents cell lines for ABCG8

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCG8

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524contributes to ATP binding IDA16893193
    GO:0016887contributes to ATPase activity IDA16893193
    GO:0017127contributes to cholesterol transporter activity IGI14504269
    GO:0046982protein heterodimerization activity IPI16870176


    ABCG8 for ontologies           About GeneDecksing


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

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


    Pathways & Interactions
    for ABCG8 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1ABC-family proteins mediated transport
    		ABC-family proteins mediated transport1.00
    		ABCA transporters in lipid homeostasis0.47
    		ABC transporters0.70
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    3Statin Pathway, Pharmacodynamics
    		Statin Pathway, Pharmacodynamics1.00
    		Statin Pathway0.80
    4Trafficking of dietary sterols
    		Trafficking of dietary sterols1.00
    5Vitamin A and carotenoid metabolism
    		Vitamin A and carotenoid metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/7        Reactome Pathways for ABCG8 (see all 7)
        ABC-family proteins mediated transport
    ABCA transporters in lipid homeostasis
    Transmembrane transport of small molecules
    Lipid digestion, mobilization, and transport
    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCG8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for ABCG8 (Q9H2212, 3 ENSP000002722864) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCG5Q9H2222, 3, ENSP000002606454MINT-2840569 MINT-2840517 I2D: score=3 STRING: ENSP00000260645
    AGPAT2ENSP000003607614STRING: ENSP00000360761
    AKT2ENSP000003758924STRING: ENSP00000375892
    ANGENSP000003367624STRING: ENSP00000336762
    LMNB1ENSP000002613664STRING: ENSP00000261366
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA16893193
    GO:0006629lipid metabolic process TAS--
    GO:0007584response to nutrient IEA--
    GO:0007588excretion IGI14504269
    GO:0010949negative regulation of intestinal phytosterol absorption IMP11099417


    ABCG8 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ABCG8 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABCG8 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABCG8
    10 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ABCG8 

    Transcripts
    for ABCG8 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABCG8
    7 QIAGEN miScript miRNA 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 plasmid: ABCG8 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCG8 (see all 7)
    OriGene shRNA RFP: ABCG8
    OriGene siRNA: ABCG8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCG8
    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCG8

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

    GeneLoc Exon Structure


    Expression
    for ABCG8 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABCG8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCTCCAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See ABCG8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCG8

    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

        SABiosciences Expression via Pathway-Focused PCR Array including ABCG8: 
              Drug Transporters in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCG8

    Orthologs
    for ABCG8 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ABCG8 gene from 8/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ABCG81 ATP-binding cassette, sub-family G (WHITE), member more 66.04(n)
    67.51(a)    		   421402  XM_419458.3  XP_419458.3 
    lizard
    (Anolis carolinensis)    		 Reptilia ABCG86
    		 --
    		 61(a)
    		 1 ↔ 1
    		 GL343231.1(1808938-1827353)
    zebrafish
    (Danio rerio)    		 Actinopterygii abcg81 ATP-binding cassette, sub-family G (WHITE), member more 62.81(n)
    61.95(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 hypothetical protein 42.26(n)
    32.94(a)    		   854080   NP_014567.2 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G257506
    AT5G528606
    (see all 16)    		 ABC transporter G family member 8
    (see all 16)    		 27(a)
    25(a)
    (see all 16)    		 many ↔ many
    many ↔ many
    (see all 16)    		 4(13110627-13112360)
    5(21419776-21421567)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 13)    		 white-brown complex homolog protein, putative
    (see all 13)    		 25(a)
    24(a)
    (see all 13)    		 many ↔ many
    many ↔ many
    (see all 13)    		 6(17821287-17823818)
    5(1042080-1044122)


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

    Paralogs
    for ABCG8 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCG8 gene
    ABCG12  ABCA12  ABCA102  ABCA132  ABCA32  ABCA82  ABCG42  ABCA122  
    ABCA42  ABCA72  ABCG52  ABCA22  ABCA92  ABCA62  ABCA52  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


    Genomic Variants
    for ABCG8 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1064 NCBI SNPs in ABCG8 are shown (see all 1064)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs118875341,2
    		C,F,H,pathogenic43802943(+) CCCAGA/C/GATACC 3 N H D mis1 ese314NA NS EA CSA WA 3822
    rs1378529901,2
    		C,pathogenic43816506(+) CAACCA/GGCTGG 2 Q R mis10--------
    rs1378529871,2
    		C,Fpathogenic43835559(+) CTATGG/AAAAGC 2 /* /W stg12Minor allele frequency- A:0.00NA EU 5875
    rs1378529911,2
    		Cpathogenic43837274(+) ACTTCC/TGAGAC 2 R * stg10--------
    rs1459926031,2
    		C,other43835746(+) GGGCGA/G/TTGCAG 3 M V L mis10--------
    rs1995535761,2
    		C,other43837253(+) TAAGTC/TGTCAG 2 R C mis10--------
    rs755455001,2
    		--43804910(+) GCAGAA/GCTGTG 1 -- int10--------
    rs101799211,2
    		C,F,H,--43804987(+) CCAACC/TCTCCA 1 -- int112Minor allele frequency- T:0.03NS EA NA 1474
    rs669000431,2
    		C,F,--43805037(+) CTCCTC/GATCTC 1 -- int14Minor allele frequency- G:0.04WA CSA NA 242
    rs747425361,2
    		C,--43805485(+) CCCAGG/ACCACA 1 -- int12Minor allele frequency- A:0.03CSA WA 119

    HapMap Linkage Disequilibrium report for ABCG8 (44066103 - 44105605 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for ABCG8
         5 CNVs: 73443 89620 50500 78526 50499
         1 Indel: 50498
    Human Gene Mutation Database (HGMD): ABCG8

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    DNA2.0 Custom Variant and Variant Library Synthesis for ABCG8

    Disorders / Diseases
    for ABCG8 gene

    (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.)
    About This Section
    ABCG8 for disorders           About GeneDecksing

    OMIM gene information: 605460   
    OMIM disorders: 210250  611465  
    UniProtKB/Swiss-Prot: ABCG8_HUMAN, Q9H221
  • Genetic variations in ABCG8 can be associated with susceptibility to gallbladder disease type 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 of industrialized countries
  • Defects in ABCG8 are a cause of sitosterolemia (STSL) [MIM:210250]; also known as phytosterolemia or shellfish
    • sterolemia. It is a 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

    20/22 diseases for ABCG8 (see all 22):    About MalaCards
    sitosterolemia    atherosclerosis    cholesterol    gallbladder disease 4
    biliary tract cancer    macrothrombocytopenia    gallbladder disease    hypercholesterolemia
    coronary heart disease    familial hypercholesterolemia    aortic atherosclerosis    insulin resistance
    cholelithiasis    gallbladder cancer    vascular disease    thrombocytopenia
    kidney disease    twinning    colorectal cancer    breast cancer

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

    4 Novoseek 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

    Publications
    for ABCG8 gene

    (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)
    About This Section

    PubMed articles for ABCG8 gene, integrated from 9 sources (see all 150):
    (articles sorted by number of sources associating them with ABCG8)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2000)
    2. 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. (2001)
    3. 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. (2001)
    4. 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. (2004)
    5. Common sequence variations in ABCG8 are related to plant sterol metabolism in healthy volunteers. (PubMed id 15520451)1, 4, 9 Plat J....Mensink R.P. (2005)
    6. Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels. (PubMed id 15311998)1, 4, 9 Hubacek J.A....Poledne R. (2004)
    7. Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol. (PubMed id 17626266)1, 3, 9 Grunhage F....Lammert F. (2007)
    8. ATP-binding cassette transporter G8 M429V polymorphism as a novel genetic marker of higher cholesterol absorption in hypercholesterolaemic Japanese subjects. (PubMed id 15816807)1, 4, 9 Miwa K....Mabuchi H. (2005)
    9. ATP-binding cassette transporter G8 gene as a determinant of apolipoprotein B-100 kinetics in overweight men. (PubMed id 15331430)1, 4, 9 Chan D.C....van Bockxmeer F.M. (2004)
    10. ATP binding cassette G5 C1950G polymorphism may affect blood cholesterol concentrations in humans. (PubMed id 12220438)1, 4, 9 Weggemans R.M....Katan M.B. (2002)

    External Searches for ABCG8 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing ABCG8 gene

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

    Other Databases showing ABCG8 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ABCG8 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ABCG8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCG8
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9H221

    Intellectual Property
    for ABCG8 gene

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

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