Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

ABCG5 Gene

protein-coding   GIFtS: 59
GCID: GC02M044039

ATP-binding cassette, sub-family G (WHITE), member 5

 Explore 18 diseases affiliated with
ABCG5 via our new
 Human Malady Compendium 
Biological research products
for ABCG5
    

(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 51 2     Sterolin 12
STSL1 2     Sterolin-13
ATP-Binding Cassette Sub-Family G Member 52     Sterolin-13
ATP-Binding Cassette, Subfamily 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ABCG5:
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)

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


(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 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 SABiosciences Chromatin IP Primers for ABCG5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: 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
Subcellular location: Membrane; Multi-pass membrane protein (Probable)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H222

  • ABCG5 Protein expression data from MOPED and PaxDb:    About this image 
    ABCG5 Protein Expression
    REFSEQ proteins: NP_071881.1  
    ENSEMBL proteins: 
     ENSP00000260645   ENSP00000430935   ENSP00000384513   ENSP00000386501   ENSP00000445107  
    Reactome Protein details: Q9H222
    Human Recombinant Protein Products for ABCG5: 
    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 Protein Services for ABCG5 
    GenScript Custom Purified and Recombinant Proteins Services for ABCG5
    Novus Biologicals ABCG5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ABCG5

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--
    GO:0016324apical plasma membrane IMP14504269

    ABCG5 for ontologies           About GeneDecksing



    ABCG5 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies: ABCG5
    OriGene Custom Antibody Services for ABCG5 
    GenScript Custom Superior Antibodies Services for ABCG5
    Novus Biologicals ABCG5 Antibodies
    Abcam antibodies for ABCG5 
    Uscn Antibodies for ABCG5
    Search ThermoFisher Antibodies for ABCG5

    Assay Products for ABCG5: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ABCG5
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ABCG5


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

    ABCG5 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR003439 ABC_transporter-like
     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


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

    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): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17474147
    GO:0005524contributes to ATP binding IDA16893193
    GO:0016887contributes to ATPase activity IDA16893193
    GO:0017127contributes to cholesterol transporter activity IGI14504269
    GO:0046982protein heterodimerization activity IPI16870176
         
    ABCG5 for ontologies           About GeneDecksing


    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 
     hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system  mortality/aging 
     muscle  reproductive system 

    ABCG5 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Abcg5/Abcg8Abcg5/tm1Hobb for ABCG5
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ABCG5 

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: ABCG5
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABCG5
    1 QIAGEN miScript miRNA Assays for microRNA that regulate ABCG5:
    hsa-miR-2116*
    SwitchGear 3'UTR luciferase reporter plasmidABCG5 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCG5 (see all 7)
    OriGene shRNA RFP: ABCG5
    OriGene siRNA: ABCG5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCG5
    Sirion Biotech Custom design and validation of potent shRNA sequences against ABCG5 

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ABCG5
    Sirion Biotech Customized adenovirus for overexpression of ABCG5 
    Sirion Biotech Customized adenovirus for potent knockdown of ABCG5

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCG5 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
    Search LifeMap BioReagents cell lines for ABCG5
    Sirion Biotech Customized stable knockdown cell line services for ABCG5 
    Sirion Biotech Customized inducible knockdown cell line services for ABCG5
    Sirion Biotech Customized stable overexpressing cell line services for ABCG5
    Sirion Biotech Customized inducible overexpressing cell line services for ABCG5

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCG5


    (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 - 5/10 super-pathways (see all 10About 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
    5Nuclear receptors in lipid metabolism and toxicity
    Nuclear receptors in lipid metabolism and toxicity1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/7        Reactome Pathways for ABCG5 (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 ABCG5
        Statin Pathway, Pharmacodynamics

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


    ABCG5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCG5

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for ABCG5 (Q9H2221, 2, 3 ENSP000002606454) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCG8Q9H2212, 3, ENSP000002722864MINT-2840569 MINT-2840517 I2D: score=3 STRING: ENSP00000272286
    PIK3R1P279862, 3, ENSP000002743354MINT-8111631 I2D: score=3 STRING: ENSP00000274335
    NCK1P163331, 3, ENSP000002889864EBI-1761423,EBI-3448658 I2D: score=2 STRING: ENSP00000288986
    --P45844-42MINT-2840480
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    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:0010212response to ionizing radiation IEA--

    ABCG5 for ontologies           About GeneDecksing



    (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

    ABCG5 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ABCG5
    8 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ABCG5 

    (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, Sirion Biotech, 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 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:
         
    OriGene 3'-UTR Clone: ABCG5
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABCG5
    1 QIAGEN miScript miRNA Assays for microRNA that regulate ABCG5:
    hsa-miR-2116*
    SwitchGear 3'UTR luciferase reporter plasmidABCG5 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCG5 (see all 7)
    OriGene shRNA RFP: ABCG5
    OriGene siRNA: ABCG5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCG5
    Sirion Biotech Custom design and validation of potent shRNA sequences against ABCG5 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCG5 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 genome-wide validated SYBR primer pairs in human, mouse, rat for ABCG5
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ABCG5
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCG5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCG5

    Additional cDNA 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:

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

    ABCG5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGTTATTTG
    ABCG5 Expression
    About this image
    See ABCG5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCG5

    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

        SABiosciences Custom PCR Arrays for ABCG5
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ABCG5
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ABCG5
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCG5
    QIAGEN 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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ABCG5 gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ABCG51 ATP-binding cassette, sub-family G (WHITE), member more 66.3(n)
    64.56(a)
      421401  XM_419457.3  XP_419457.3 
    lizard
    (Anolis carolinensis)
    Reptilia ABCG56
    --
    64(a)
    1 ↔ 1
    GL343231.1(1792232-1807495)
    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
    43.79(n)1
    31.76(a)1
      429761  NM_143050.11  NP_651307.21 
    worm
    (Caenorhabditis elegans)
    Secernentea C10C6.53 ATP binding transport protein 29(a)
    (best of 3)
      IV(11470610-11473485)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G533906
    AT1G532706
    (see all 16)
    ABC transporter G family member 10
    (see all 16)
    9(a)
    28(a)
    (see all 16)
    possible ortholog
    many ↔ many
    (see all 16)
    1(19918047-19923807)
    1(19862878-19864650)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 13)
    ABC-2 type transporter domain containing protein, ...
    ABC-2 type transporter domain containing protein, ...
    (see all 13)
    25(a)
    23(a)
    (see all 13)
    many ↔ many
    many ↔ many
    (see all 13)
    1(24407425-24409416)
    6(17821287-17823818)


    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
    Paralogs for ABCG5 gene
    ABCG12  ABCA12  ABCA102  ABCA132  ABCA32  ABCA82  ABCG42  ABCA122  
    ABCG82  ABCA42  ABCA72  ABCA22  ABCA92  ABCA62  ABCA52  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

    ABCG5 for paralogs           About GeneDecksing



    (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

    10/694 NCBI SNPs in ABCG5 are shown (see all 694    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1194790671,2
    Cpathogenic43787816(-) GGACCA/C/GCGTAG 3 H P R mis10--------
    rs764925431,2
    C,F--43776210(+) GGTACA/GTGTGC 1 -- ds50011Minor allele frequency- G:0.01--542
    rs1449874341,2
    C--43776330(+) CTACGG/ATTTTT 1 -- ut311Minor allele frequency- A:0.00--542
    rs776384401,2
    C,F--43776416(+) GATGTG/AATCAG 1 -- ut312Minor allele frequency- A:0.00WA 660
    rs771055211,2
    C,F--43776429(+) AACTCC/TGACCC 1 -- ut315Minor allele frequency- T:0.16NA CSA WA 784
    rs794752031,2
    C,F--43776552(+) CTTATG/AGTCAG 1 -- ut312Minor allele frequency- A:0.03WA 660
    rs772650831,2
    C,F--43776879(+) GCACTC/TTCATT 1 -- ut312Minor allele frequency- T:0.01WA 662
    rs101874451,2
    C--43777532(+) ttgggG/Tttttt 1 -- int10--------
    rs714200701,2
    C--43777573(+) TTTGAG/AACACA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs714200711,2
    C--43777647(+) TCCCAG/AATTCA 1 -- int11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for ABCG5 (44039611 - 44066004 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ABCG5: --
    Human Gene Mutation Database (HGMD): ABCG5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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

    ABCG5 for disorders           About GeneDecksing

    OMIM gene information: 605459   
    OMIM disorders: 210250  
    UniProtKB/Swiss-Prot: ABCG5_HUMAN, Q9H222
  • Defects in ABCG5 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

    18 diseases for ABCG5:    About MalaCards
    sitosterolemia    macrothrombocytopenia    hypercholesterolemia    coronary heart disease
    familial hypercholesterolemia    tangier disease    aortic atherosclerosis    insulin resistance
    cholelithiasis    atherosclerosis    thrombocytopenia    twinning
    alzheimer's disease    colorectal cancer    breast cancer    hypertension
    cholesterol    hepatitis

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

    4 Novoseek 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

    PubMed articles for ABCG5 gene, integrated from 9 sources (see all 139):
    (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. (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. (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. (2001)
    4. Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels. (PubMed id 15311998)1, 4, 9 Hubacek J.A....Poledne R. (2004)
    5. 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)
    6. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. (PubMed id 11138003)1, 2, 9 Lee M.-H.... Patel S.B. (2001)
    7. No genetic association between ATP binding cassette proteins and Japanese sporadic Alzheimer's disease. (PubMed id 15980630)1, 4, 9 Ohkubo T....Arai H. (2005)
    8. Role of ABCG1 and other ABCG family members in lipid metabolism. (PubMed id 11590207)1, 2, 9 Schmitz G.... Heimerl S. (2001)
    9. 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)
    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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 64240 HGNC: 13886 AceView: ABCG5 Ensembl:ENSG00000138075 euGenes: HUgn64240
    ECgene: ABCG5 Kegg: 64240 H-InvDB: ABCG5

    (According to HUGE)
    About This Section
      --

    (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 ABCG5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCG5
    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
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for ABCG5   OriGene shRNA RFP for ABCG5  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCG5   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ABCG5  
     Browse OriGene Protein Over-expression Lysates   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for ABCG5   OriGene 3'-UTR Clone for ABCG5  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABCG5   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCG5  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ABCG5   OriGene Custom Protein Services for ABCG5  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ABCG5
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCG5
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCG5
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCG5
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCG5
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCG5
     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 Superior Antibodies 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

     Regulatory tfbs in ABCG5 promoter
     Search Chromatin IP Primers for ABCG5
     RT2 qPCR Primer Assay in human, mouse, rat ABCG5
     GNC Network for ABCG5
     SABiosciences Custom PCR Arrays for ABCG5
     Search Tocris compounds for ABCG5
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     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




     ABCG5 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines 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
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ABCG5
    Sirion Biotech Customized:
     stable knockdown cell line services for ABCG5
     inducible knockdown cell line services for ABCG5
     design and validation of potent shRNA sequences against ABCG5
     adenovirus for potent knockdown of ABCG5
     adenovirus for overexpression of ABCG5
     stable overexpressing cell line services for ABCG5
     inducible overexpressing cell line services for ABCG5
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4