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

ABCG4 Gene

protein-coding   GIFtS: 57
GCID: GC11P119019

ATP-Binding Cassette, Sub-Family G (WHITE), Member 4

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATP-Binding Cassette, Sub-Family G (WHITE), Member 41 2     Member 41
WHITE22 3 5     Subfamily G1
Putative ABC Transporter1 2     ATP-Binding Cassette Sub-Family G Member 42
ATP-Binding Cassette1     ATP-Binding Cassette, Subfamily G, Member 42

External Ids:    HGNC: 138841   Entrez Gene: 641372   Ensembl: ENSG000001723507   OMIM: 6077845   UniProtKB: Q9H1723   

Export aliases for ABCG4 gene to outside databases

Previous GC identifers: GC11P135476 GC11P120533 GC11P119054 GC11P118557 GC11P118558 GC11P118524 GC11P114959


(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 ABCG4 Gene:
The protein encoded by this gene is included in 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 and is expressed predominantly in liver tissue. The function has not yet been determined but may
involve cholesterol transport. Alternate splice variants have been described but their full length sequences have
not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for ABCG4 Gene: 
ABCG4 (ATP-binding cassette, sub-family G (WHITE), member 4) is a protein-coding gene. Diseases associated with ABCG4 include clostridium difficile, and dubin-johnson syndrome, and among its related super-pathways are ABC-family proteins mediated transport and SLC-mediated transmembrane transport. GO annotations related to this gene include ATPase activity and protein homodimerization activity. An important paralog of this gene is ABCG1.

UniProtKB/Swiss-Prot: ABCG4_HUMAN, Q9H172
Function: May be involved in macrophage lipid homeostasis

Gene Wiki entry for ABCG4 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABCG4 gene promoter:
         GR   p300   GR-alpha   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCG4 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCG4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCG4


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

Entrez Gene cytogenetic band: 11q23.3   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23

ABCG4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCG4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P119019:  view genomic region     (about GC identifiers)

Start:
119,019,722 bp from pter      End:
119,033,375 bp from pter
Size:
13,654 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ABCG4_HUMAN, Q9H172 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family G member 4  
Size: 646 amino acids; 71896 Da
Subcellular location: Membrane; Multi-pass membrane protein (Probable)
Secondary accessions: A8K1B5

Explore the universe of human proteins at neXtProt for ABCG4: NX_Q9H172

Explore proteomics data for ABCG4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H172

  • ABCG4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABCG4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001135977.1  NP_071452.2  

    ENSEMBL proteins: 
     ENSP00000304111   ENSP00000431915   ENSP00000406874   ENSP00000434318   ENSP00000434571  
    Reactome Protein details: Q9H172
    Human Recombinant Protein Products for ABCG4: 
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    OriGene Custom MassSpec 
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    GenScript Custom Purified and Recombinant Proteins Services for ABCG4
    Novus Biologicals ABCG4 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABCG4 

    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:0016020membrane ----
    GO:0016021integral to membrane IEA--

    ABCG4 for ontologies           About GeneDecksing



    ABCG4 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for ABCG4 

    Assay Products for ABCG4: 
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    Cloud-Clone Corp. ELISAs for ABCG4 
    Cloud-Clone Corp. CLIAs for ABCG4


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCG4 
    ABCG subfamily

    5/6 InterPro protein domains (see all 6):
     IPR020064 ABC_transptr_G1-like
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR013525 ABC_2_trans

    Graphical View of Domain Structure for InterPro Entry Q9H172

    ProtoNet protein and cluster: Q9H172

    UniProtKB/Swiss-Prot: ABCG4_HUMAN, Q9H172
    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


    ABCG4 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCG4_HUMAN, Q9H172
    Function: May be involved in macrophage lipid homeostasis

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005515protein binding IPI16870176
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IEA--
    GO:0017111nucleoside-triphosphatase activity ----
         
    ABCG4 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Abcg4):
     cellular  homeostasis/metabolism 

    ABCG4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ABCG4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ABCG4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCG4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCG4 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABCG4
    8/64 QIAGEN miScript miRNA Assays for microRNAs that regulate ABCG4 (see all 64):
    hsa-miR-142-5p hsa-miR-1321 hsa-miR-15a hsa-miR-106a hsa-miR-605 hsa-miR-25 hsa-miR-346 hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidABCG4 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of ABCG4 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCG4


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ABCG4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.70
    ABCA transporters in lipid homeostasis0.47
    ABC transporters0.70
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for ABCG4
        ABC-family proteins mediated transport
    ABCA transporters in lipid homeostasis
    Transmembrane transport of small molecules


    1         Kegg Pathway  (Kegg details for ABCG4):
        ABC transporters


    ABCG4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABCG4

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5/26 Interacting proteins for ABCG4 (Q9H1722, 3 ENSP000003041114) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP3D1O146173I2D: score=1 
    ASXL2Q76L833I2D: score=1 
    CBX5P459733I2D: score=1 
    CBX8Q9HC523I2D: score=1 
    CSTF3Q129963I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0033344cholesterol efflux TAS16682745
    GO:0055085transmembrane transport TAS--

    ABCG4 for ontologies           About GeneDecksing



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

    ABCG4 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ABCG4

    1 Novoseek inferred chemical compound relationship for ABCG4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholesterol 0 2 11856881 (2)

    Search CenterWatch for drugs/clinical trials and news about ABCG4

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ABCG4 gene (2 alternative transcripts): 
    NM_001142505.1  NM_022169.4  

    Unigene Cluster for ABCG4:

    ATP-binding cassette, sub-family G (WHITE), member 4
    Hs.126378  [show with all ESTs]
    Unigene Representative Sequence: NM_022169
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000307417(uc001pvs.3 uc009zar.3) ENST00000524604 ENST00000449422
    ENST00000531739 ENST00000533694 ENST00000534402
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
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    8/64 QIAGEN miScript miRNA Assays for microRNAs that regulate ABCG4 (see all 64):
    hsa-miR-142-5p hsa-miR-1321 hsa-miR-15a hsa-miR-106a hsa-miR-605 hsa-miR-25 hsa-miR-346 hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidABCG4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ABCG4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCG4
    Clone
    Products:
         
    OriGene clones in human, mouse for ABCG4 (see all 11)
    OriGene ORF clones in mouse, rat for ABCG4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ABCG4 (NM_022169)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCG4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCG4
    Sirion Biotech Customized lentivirus for stable overexpression of ABCG4 
                         Customized lentivirus expression plasmids for stable overexpression of ABCG4 
    Primer
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    OriGene qPCR primer pairs and template standards for ABCG4
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCG4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCG4

    Additional mRNA sequence: 

    AJ300465.1 AJ308237.1 AJ308238.1 AJ308239.1 AJ308240.1 AJ308242.1 AJ308243.1 AJ308244.1 
    AJ308245.1 AJ308246.1 AJ308247.1 AJ308248.1 AJ308249.1 AJ308250.1 AJ308251.1 AK289830.1 
    AK290035.1 AK308673.1 AL137563.1 BC041091.1 

    2 DOTS entries:

    DT.40126479  DT.120679650 

    23 AceView cDNA sequences:

    AJ308247 AJ308238 AJ300465 AJ308250 AJ308245 AL137563 AJ308248 AJ308246 
    AJ308240 BC041091 AJ308242 AJ308243 NM_022169 BQ636356 AJ308237 AJ308251 
    AJ308244 AJ308249 BM925745 AA912226 BM692180 BX332307 AJ308239 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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

    ABCG4 expression in normal human tissues (normalized intensities)      ABCG4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTGGCTTTC
    ABCG4 Expression
    About this image


    ABCG4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Lower Urinary Tract (Urinary System)
             visceral organ   

    See ABCG4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCG4

    SOURCE GeneReport for Unigene cluster: Hs.126378
        SABiosciences Custom PCR Arrays for ABCG4
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCG4

    (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 ABCG4 gene from 9/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcg41 , 5 ATP-binding cassette, sub-family G (WHITE), member 4 less1, 5 90.25(n)1
    96.59(a)1
      9 (24.84 cM)5
    1926631  NM_138955.31  NP_620405.31 
     442731885 
    chicken
    (Gallus gallus)
    Aves ABCG41 ATP-binding cassette, sub-family G (WHITE), member 4 less 81.71(n)
    87.42(a)
      428242  XM_425801.3  XP_425801.3 
    lizard
    (Anolis carolinensis)
    Reptilia ABCG46
    ATP-binding cassette, sub-family G (WHITE), member...
    87(a)
    1 ↔ 1
    GL343722.1(47680-93838)
    zebrafish
    (Danio rerio)
    Actinopterygii abcg41 ATP-binding cassette, sub-family G (WHITE), member 4 less 73.23(n)
    80.47(a)
      564842  XM_682593.3  XP_687685.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Atet3 ATP-binding cassette (ABC) transporter 62(a)
    (best of 9)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea F02E11.13
    wht-41
    ABC transpoter3
    Protein WHT-41
    30(a)
    (best of 7)3
    48.1(n)1
    33.64(a)1
      II(3279207-3281668)3
    1736711  NM_062094.21  NP_494495.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADP16
    Putative ATP-dependent permease of the ABC transpo...
    16(a)
    1 → many
    III(133724-136873)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G274201 ABC transporter G family member 9 43.39(n)
    34.04(a)
      828850  NM_118876.4  NP_194472.3 
    rice
    (Oryza sativa)
    Liliopsida Os.72322 Oryza sativa (japonica cultivar-group) cDNA cloneJ023051G10, full insert sequence less 75.12(n)    AK068591.1 


    ENSEMBL Gene Tree for ABCG4 (if available)
    TreeFam Gene Tree for ABCG4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCG4 gene
    ABCG12  ABCA102  ABCA132  ABCA32  ABCG82  ABCA22  ABCA62  ABCA52  
    ABCG22  ABCA12  ABCA82  ABCA42  ABCA122  ABCA72  ABCG52  ABCA92  
    5 SIMAP similar genes for ABCG4 using alignment to 6 protein entries:     ABCG4_HUMAN (see all proteins):
    DKFZp434P1420    white    ABCG1    ABCB4    ABCG2

    ABCG4 for paralogs           About GeneDecksing



    (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) 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

    10/404 SNPs in ABCG4 are shown (see all 404)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1903626341,2
    --114957265(+) GCCTGC/TAATCA 1 -- us2k10--------
    rs1393350791,2
    --114957274(+) CACAGC/TACTTT 1 -- us2k10--------
    rs1820596851,2
    --114957313(+) GGTCAG/TGAATT 1 -- us2k10--------
    rs11688151,2
    C,F,A--114957438(-) ttgaaG/Acgatt 1 -- us2k16Minor allele frequency- A:0.36NA WA CSA 11
    rs116063231,2
    H--114957547(+) aaagaA/Gagaaa 1 -- us2k1 trp30--------
    rs1426935891,2
    C--114957551(+) GAGAA-/AGAGAG
            
    AGAGA
    1 -- cds10--------
    rs116063251,2
    H--114957559(+) agagaA/Gagaga 1 -- us2k1 trp30--------
    rs116020871,2
    H--114957573(+) aaagaA/Gagaga 1 -- us2k1 trp30--------
    rs3688691381,2
    C--114957589(+) AAGAA-/GGAAAG 1 -- us2k10--------
    rs3777161921,2
    C--114957590(+) gaaag-/A/AAAA
            
    gaaag
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ABCG4 (119019722 - 119033375 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ABCG4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv468879CNV Loss19166990
    nsv898416CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607784    OMIM disorders: --

    13 diseases for ABCG4:    About MalaCards
    clostridium difficile    dubin-johnson syndrome    tangier disease    zellweger syndrome
    cone-rod dystrophy    adrenoleukodystrophy    retinal degeneration    down syndrome
    pneumonia    tuberculosis    cystic fibrosis    atherosclerosis
    retinitis


    ABCG4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ABCG4
    Human Genome Epidemiology (HuGE) Navigator: ABCG4 (6 documents)

    Export disorders for ABCG4 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 ABCG4 gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with ABCG4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    2. Integrative predictive model of coronary artery calci fication in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (2009)
    3. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (2009)
    4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. ABCG4: a novel human white family ABC-transporter expressed in the brain and eye. (PubMed id 12183068)1, 2 Oldfield S.... Lightman S. (2002)
    7. The human ATP-binding cassette (ABC) transporter supe rfamily. (PubMed id 11435397)1, 3 Dean M....Allikmets R. (2001)
    8. The human ABCG4 gene is regulated by oxysterols and retinoids in monocyte-derived macrophages. (PubMed id 11606068)1, 2 Engel T.... Assmann G. (2001)
    9. Human and mouse orthologs of a new ATP-binding cassette gene, ABCG4. (PubMed id 11856881)1, 9 Annilo T....Allikmets R. (2001)
    10. ABCG2- and ABCG4-mediated efflux of amyloid-b peptide 1-40 at the mouse blood-brain barrier. (PubMed id 22391220)1 Do T.M....Bourasset F. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 64137 HGNC: 13884 AceView: ABCG4 Ensembl:ENSG00000172350 euGenes: HUgn64137
    ECgene: ABCG4 Kegg: 64137 H-InvDB: ABCG4

    (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 ABCG4 Pharmacogenomics, SNPs, Pathways
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9H172

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ABCG4 gene:
    Search GeneIP for patents involving ABCG4

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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