Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ABCG5 Gene

protein-coding   GIFtS: 60
GCID: GC02M044039

ATP-Binding Cassette, Sub-Family G (WHITE), Member 5

  See ABCG5-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)
About This Section

TryGeneCards Plus

Aliases
ATP-Binding Cassette, Sub-Family G (WHITE), Member 51 2     ATP-Binding Cassette, Subfamily G, Member 52
Sterolin 11 2     sterolin-12
STSL2     Sterolin-13
ATP-Binding Cassette Sub-Family G Member 52     

External Ids:    HGNC: 138861   Entrez Gene: 642402   Ensembl: ENSG000001380757   OMIM: 6054595   UniProtKB: Q9H2223   

Export aliases for ABCG5 gene to outside databases

Previous GC identifers: GC02M044038 GC02M044208 GC02M044014 GC02M043951 GC02M043893 GC02M043776


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

TryGeneCards Plus

Entrez Gene summary for ABCG5 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 as a half-transporter to limit intestinal absorption and
promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and
intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8.
Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in
patients with sitosterolemia. (provided by RefSeq, Jul 2008)

GeneCards Summary for ABCG5 Gene:
ABCG5 (ATP-binding cassette, sub-family G (WHITE), member 5) is a protein-coding gene. Diseases associated with ABCG5 include sitosterolemia, and aortic atherosclerosis. 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: ABCG5_HUMAN, Q9H222
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 ABCG5 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCG5 gene promoter:
         HOXA9   SRF   Bach2   SRF (504 AA)   CUTL1   Evi-1   HEN1   AREB6   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCG5 promoter sequence
   Search Chromatin IP Primers for ABCG5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCG5


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

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p21

ABCG5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCG5 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M044039:  view genomic region     (about GC identifiers)

Start:
44,039,611 bp from pter      End:
44,066,004 bp from pter
Size:
26,394 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ABCG5_HUMAN, Q9H222 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family G member 5  
Size: 651 amino acids; 72504 Da
Subunit: May form heterodimers with ABCG8 or be tightly coupled to ABCG8 along a pathway regulating diatery-sterol
absorption and excretion

Explore the universe of human proteins at neXtProt for ABCG5: NX_Q9H222

Explore proteomics data for ABCG5 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn584, Asn591
  • Modification sites at PhosphoSitePlus

  • See ABCG5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071881.1  
    ENSEMBL proteins: 
     ENSP00000260645   ENSP00000430935   ENSP00000384513   ENSP00000386501   ENSP00000445107  
    Reactome Protein details: Q9H222

    ABCG5 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ABCG5
    GenScript Custom Purified and Recombinant Proteins Services for ABCG5
    Novus Biologicals ABCG5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABCG5

     
    Search eBioscience for Proteins for ABCG5 

     
    Search antibodies-online for proteins for ABCG5 

     
    antibodies-online peptides for ABCG5

    ABCG5 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ABCG5
    OriGene Custom Antibody Services for ABCG5
    Novus Biologicals ABCG5 Antibodies
    Abcam antibodies for ABCG5
    Cloud-Clone Corp. Antibodies for ABCG5
    Search ThermoFisher Antibodies for ABCG5
    antibodies-online antibodies for ABCG5 (28 products) 

    ABCG5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ABCG5
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ABCG5
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ABCG5
    Cloud-Clone Corp. CLIAs for ABCG5
    Search eBioscience for ELISAs for ABCG5 
    antibodies-online kits for ABCG5 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    ABCG: ATP binding cassette transporters / subfamily G

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCG5
    ABCG subfamily

    4 InterPro protein domains:
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR013525 ABC_2_trans

    Graphical View of Domain Structure for InterPro Entry Q9H222

    ProtoNet protein and cluster: Q9H222

    UniProtKB/Swiss-Prot: ABCG5_HUMAN, Q9H222
    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


    Find genes that share domains with ABCG5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCG5_HUMAN, Q9H222
    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 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005515protein binding IPI16870176
    GO:0005524contributes to ATP binding IDA16893193
    GO:0016887contributes to ATPase activity IDA16893193
    GO:0017111nucleoside-triphosphatase activity ----
         
    Find genes that share ontologies with ABCG5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ABCG5:
     Increased HPV18 LCR reporter a 

         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Abcg5):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system  mortality/aging 
     muscle  reproductive system 

    Find genes that share phenotypes with ABCG5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Abcg5/Abcg8Abcg5/tm1Hobb for ABCG5

       genOway: Develop your customized and physiologically relevant rodent model for ABCG5

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ABCG5 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ABCG5:
    hsa-miR-2116*
    SwitchGear 3'UTR luciferase reporter plasmidABCG5 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ABCG5
    Predesigned siRNA for gene silencing in human, mouse, rat ABCG5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ABCG5

    Clone
    Products:
         
    OriGene clones in human, mouse for ABCG5 (see all 6)
    OriGene ORF clones in mouse, rat for ABCG5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ABCG5 (NM_022436)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCG5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCG5

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ABCG5
    Browse ESI BIO Cell Lines and PureStem Progenitors for ABCG5 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCG5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    ABCG5_HUMAN, Q9H222: Membrane; Multi-pass membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    extracellular2
    nucleus2
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 5 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
    GO:0045177apical part of cell ----

    Find genes that share ontologies with ABCG5           About GenesLikeMe


    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for ABCG5 About   (see all 9)  
    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


    Find genes that share SuperPaths with ABCG5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for ABCG5
        Vitamin A and carotenoid metabolism
    Statin Pathway
    Nuclear receptors in lipid metabolism and toxicity

    2 Reactome Pathways for ABCG5
        ABCA transporters in lipid homeostasis
    Trafficking of dietary sterols

    1 PharmGKB Pathway for ABCG5
        Statin Pathway, Pharmacodynamics

    3 Kegg Pathways  (Kegg details for ABCG5):
        ABC transporters
    Fat digestion and absorption
    Bile secretion

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ABCG5
    Interactions:

        GeneGlobe Interaction Network for ABCG5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for ABCG5 (Q9H2221, 2, 3 ENSP000002606454) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCG8Q9H2211, 2, 3, ENSP000002722864EBI-1761423,EBI-3908684 MINT-2840569 MINT-2840517 I2D: score=3 STRING: ENSP00000272286
    PIK3R1P279862, 3, ENSP000002743354MINT-8111631 I2D: score=3 STRING: ENSP00000274335
    NCK1P163331, 3, ENSP000002889864EBI-1761423,EBI-389883 I2D: score=2 STRING: ENSP00000288986
    GCLCENSP000002294164STRING: ENSP00000229416
    GSSENSP000002169514STRING: ENSP00000216951
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA16893193
    GO:0007584response to nutrient IEA--
    GO:0007588excretion IGI14504269
    GO:0010212response to ionizing radiation IEA--
    GO:0010949negative regulation of intestinal phytosterol absorption IMP11099417

    Find genes that share ontologies with ABCG5           About GenesLikeMe



    (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)
    About This Section

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

    Browse Tocris compounds for ABCG5

    8 Novoseek inferred chemical compound relationships for ABCG5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sterol 88.8 34 15044450 (3), 15860120 (2), 11452359 (2), 12208868 (2) (see all 23)
    sitosterol 84.3 2 15175352 (1), 12488046 (1)
    ezetimibe 75.4 1 19013286 (1)
    cholesterol 74.8 73 16614398 (5), 19019257 (4), 15175352 (3), 12679197 (3) (see all 35)
    atp 43.9 13 11668628 (2), 15980630 (1), 19846887 (1), 16614398 (1) (see all 10)
    lipid 32.9 6 15311998 (1), 15860120 (1), 17098593 (1), 16980816 (1) (see all 5)
    phospholipid 5.62 1 16250035 (1)
    glucose 0 1 17543849 (1)



    Find genes that share compounds with ABCG5           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for ABCG5 gene: 
    NM_022436.2  

    Unigene Cluster for ABCG5:

    ATP-binding cassette, sub-family G (WHITE), member 5
    Hs.132992  [show with all ESTs]
    Unigene Representative Sequence: BC111541
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260645(uc002rtn.3) ENST00000486512 ENST00000405322(uc002rto.3 uc002rtp.3)
    ENST00000409962 ENST00000543989(uc002rtm.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ABCG5 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ABCG5:
    hsa-miR-2116*
    SwitchGear 3'UTR luciferase reporter plasmidABCG5 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ABCG5
    Predesigned siRNA for gene silencing in human, mouse, rat ABCG5
    Clone
    Products:
         
    OriGene clones in human, mouse for ABCG5 (see all 6)
    OriGene ORF clones in mouse, rat for ABCG5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ABCG5 (NM_022436)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCG5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCG5
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ABCG5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABCG5
      QuantiTect SYBR Green Assays in human, mouse, rat ABCG5
      QuantiFast Probe-based Assays in human, mouse, rat ABCG5

    Additional mRNA sequence: 

    AF312715.2 AF320293.1 AK091997.1 BC111541.1 BC111542.1 

    5 DOTS entries:

    DT.105305  DT.40281773  DT.99999805  DT.40188892  DT.97766428 

    18 AceView cDNA sequences:

    NM_022436 AF320293 AI140253 AK091997 AF312715 BM856449 AX747300 BX092855 
    AI033358 AA700019 T99836 AV695922 T86384 AV694671 AV689089 T93792 
    AA203458 T93842 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for ABCG5    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
    SP1:                                                                                          
    SP2:                                      -     -     -                                       


    ECgene alternative splicing isoforms for ABCG5

    (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)
    About This Section

    TryGeneCards Plus

    ABCG5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTTATTTG
    ABCG5 Expression
    About this image

    ABCG5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCG5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.132992

    UniProtKB/Swiss-Prot: ABCG5_HUMAN, Q9H222
    Tissue specificity: Strongly expressed in the liver, lower levels in the small intestine and colon

        Custom PCR Arrays for ABCG5
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ABCG5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABCG5
    QuantiTect SYBR Green Assays in human, mouse, rat ABCG5
    QuantiFast Probe-based Assays in human, mouse, rat ABCG5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCG5

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ABCG5 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcg51 , 5 ATP-binding cassette, sub-family G (WHITE), member more1, 5 81.36(n)1
    80.18(a)1
      17 (55.02 cM)5
    274091  NM_031884.11  NP_114090.11 
     846582345 
    chicken
    (Gallus gallus)
    Aves ABCG51 ATP-binding cassette, sub-family G (WHITE), member more 66.3(n)
    64.56(a)
      421401  XM_419457.4  XP_419457.3 
    lizard
    (Anolis carolinensis)
    Reptilia ABCG56
    ATP-binding cassette, sub-family G (WHITE), member...
    64(a)
    1 ↔ 1
    GL343231.1(1792232-1807495)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia abcg51 ATP-binding cassette, sub-family G (WHITE), member more 63.04(n)
    62.4(a)
      100145776  NM_001127141.1  NP_001120613.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abcg51 ATP-binding cassette, sub-family G (WHITE), member more 62.7(n)
    62.87(a)
      557317  NM_001128690.1  NP_001122162.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta E233
    CG110691
    ATP-binding cassette (ABC) transporter3
    CG110691
    36(a)
    (best of 3)3
    44.27(n)1
    32.22(a)1
      429761  NM_143050.21  NP_651307.21 
    worm
    (Caenorhabditis elegans)
    Secernentea C10C6.53 ATP binding transport protein 29(a)
    (best of 3)
      IV(11470610-11473485)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADP16
    Putative ATP-dependent permease of the ABC transpo...
    16(a)
    1 → many
    III(133724-136873) YCR011C


    ENSEMBL Gene Tree for ABCG5 (if available)
    TreeFam Gene Tree for ABCG5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for ABCG5 gene
    ABCG12  ABCG82  ABCG42  ABCG22  
    11 SIMAP similar genes for ABCG5 using alignment to 9 protein entries:     ABCG5_HUMAN (see all proteins):
    RHBDD3    NCF1    SYNE1    L3MBTL2    ETFA    PAM16
    NAA15    ABCG2    ADCY7    ABCG8    ABCG1

    Find genes that share paralogs with ABCG5           About GenesLikeMe



    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ABCG5 (see all 758)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0122454
    Sitosterolemia (STSL)4--see VAR_0122452 R H mis40--------
    VAR_0122464
    Sitosterolemia (STSL)4--see VAR_0122462 R H mis40--------
    VAR_0122444
    Sitosterolemia (STSL)4--see VAR_0122442 E Q mis40--------
    VAR_0122474
    Sitosterolemia (STSL)4--see VAR_0122472 R P mis40--------
    VAR_0122484
    Sitosterolemia (STSL)4--see VAR_0122482 R S mis40--------
    VAR_0207814
    Sitosterolemia (STSL)4--see VAR_0207812 N K mis40--------
    rs1194790671,2
    Cpathogenic143920659(-) GGACCA/C/GCGTAG 3 H P R mis10--------
    rs1433151561,2
    C--43776169(+) TTTTT-/CGGTAG 1 -- ds50010--------
    rs1141258081,2
    C,F--43908700(+) CTGTTC/GTTTGT 1 -- ds50011Minor allele frequency- G:0.03WA 118
    rs49526841,2
    C,F,A--43908784(+) GAGTGC/TAGTGG 1 -- ds50015Minor allele frequency- T:0.13NA WA CSA EA 246

    HapMap Linkage Disequilibrium report for ABCG5 (44039611 - 44066004 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ABCG5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv271843CNV Insertion20981092
    nsv873981CNV Loss21882294
    nsv873980CNV Loss21882294
    nsv873979CNV Loss21882294
    dgv59n68CNV Gain17160897
    nsv457174CNV Gain19166990

    Human Gene Mutation Database (HGMD): ABCG5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCG5
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCG5

    (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

    TryGeneCards Plus
    OMIM gene information: 605459   
    OMIM disorders: 210250  
    UniProtKB/Swiss-Prot: ABCG5_HUMAN, Q9H222
  • 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

  • 5 diseases for ABCG5:    
    About MalaCards
    sitosterolemia    aortic atherosclerosis    cap myopathy 1    cap myopathy
    familial hypercholesterolemia

    2 diseases from the University of Copenhagen DISEASES database for ABCG5:
    Atherosclerosis     Cholelithiasis

    Find genes that share disorders with ABCG5           About GenesLikeMe

    4 Novoseek inferred disease relationships for ABCG5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sitosterolemia 97.9 47 11668628 (4), 12611906 (3), 11452359 (2), 19111681 (2) (see all 28)
    hypercholesterolemia 57.1 5 18522623 (2), 19012522 (2), 15175362 (1)
    atherosclerosis 47.8 4 15044450 (2), 15175362 (1), 15054092 (1)
    rare disease 12.8 1 15737409 (1)

    Genetic Association Database (GAD): ABCG5
    Human Genome Epidemiology (HuGE) Navigator: ABCG5 (45 documents)

    Export disorders for ABCG5 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)
    About This Section

    TryGeneCards Plus

    PubMed articles for ABCG5 gene, integrated from 10 sources (see all 146):
    (articles sorted by number of sources associating them with ABCG5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 3, 9 Lu K....Patel S.B. (Am. J. Hum. Genet. 2001)
    2. 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)
    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. (Hum. Mutat. 2001)
    4. The ABCG5 polymorphism contributes to individual responses to dietary cholesterol and carotenoids in eggs. (PubMed id 16614398)1, 4, 9 Herron K.L....Fernandez M.L. (J. Nutr. 2006)
    5. Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels. (PubMed id 15311998)1, 4, 9 HubA!cek J.A....Poledne R. (Physiol Res 2004)
    6. 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)
    7. 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)
    8. Single nucleotide polymorphisms in ABCG5 and ABCG8 are associated with changes in cholesterol metabolism during weight loss. (PubMed id 17827468)1, 4, 9 Santosa S....Jones P.J. (J. Lipid Res. 2007)
    9. The metabolism of plant sterols is disturbed in postmenopausal women with coronary artery disease. (PubMed id 19217458)1, 4, 9 Gylling H....Miettinen T.A. (Metab. Clin. Exp. 2009)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 64240 HGNC: 13886 AceView: ABCG5 Ensembl:ENSG00000138075 euGenes: HUgn64240
    ECgene: ABCG5 Kegg: 64240 H-InvDB: ABCG5

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ABCG5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ABCG5[genesymbol]
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9H222

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ABCG5 gene:
    Search GeneIP for patents involving ABCG5

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ABCG5   OriGene RNAi products in human, mouse, rat for ABCG5  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for ABCG5  
     OriGene qSTAR qPCR primer pairs in human, mouse for ABCG5   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for ABCG5   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ABCG5   OriGene Custom Protein Services for ABCG5  

     
     
     Block miRNA regulation of human, mouse, rat ABCG5 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ABCG5
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCG5 Predesigned siRNA for gene silencing in human, mouse, rat ABCG5
     QuantiFast Probe-based Assays in human, mouse, rat ABCG5 QuantiTect SYBR Green Assays in human, mouse, rat ABCG5
     Custom PCR Arrays for ABCG5 Search Chromatin IP Primers for ABCG5
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABCG5  GeneGlobe Interaction Network for ABCG5
     Regulatory tfbs in ABCG5 promoter
     GenScript Custom Purified and Recombinant Proteins Services for ABCG5 GenScript cDNA clones with any tag delivered in your preferred vector for ABCG5
     GenScript Custom Assay Services for ABCG5 GenScript Custom overexpressing Cell Line Services for ABCG5
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for ABCG5
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ABCG5 antibodies
     ABCG5 lysates
     Antibodies for ABCG5
     See all of Abcam's Antibodies, Kits and Proteins for ABCG5
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for ABCG5
     Antibodies for ABCG5
     ELISAs for ABCG5
     CLIAs for ABCG5



     Browse ESI BIO Cell Lines and PureStem Progenitors for ABCG5
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCG5
     SwitchGear 3'UTR luciferase reporter plasmids for ABCG5
     SwitchGear Promoter luciferase reporter plasmids for ABCG5
     Search ThermoFisher Antibodies for ABCG5
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCG5
     Browse compounds at ApexBio
     Search Addgene for plasmids for ABCG5
      Search eBioscience for proteins for ABCG5
      Search eBioscience for elisas for ABCG5
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for ABCG5
     antibodies-online antibodies for ABCG5 (28 products)
     antibodies-online kits for ABCG5 (6 products)
     antibodies-online peptides for ABCG5
      Search antibodies-online for proteins for ABCG5
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ABCG5 gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4