GeneID = 64137 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 64137
    Gene Symbol ABCG4
    Aliases WHITE2
    Description ATP-binding cassette, sub-family G (WHITE), member 4
    Organism Homo sapiens
    Location 11q23.3
    Genomic position NC_000011.9 119019749-119033374 plus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q9H172
    Mammalian Homolog
    (GeneID)
    mouse : 192663
    rat : 300664
  • KOBAS Annotation (Pathway/Disease Annotation)
  • Data comes from KOBAS
    Pathway IDPathway NamePathway Database
    hsa02010 ABC transporters KEGG PATHWAY
    Disease IDDisease NameDisease Database
    1740 Alzheimer's disease FunDO
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • Data comes from PharmGKB PA24410
    PharmGKB AccessionClassName / Gene Symbol (Entrez Gene ID)
    PA24410 Gene ABCG4 (64137)
  • TaxicoGenetics Related Chemicals/Diseases/Pathways
  • Known Drugs in DrugBank
  • Transporter Substrate Information
  • Data comes from (unpublished integrated data)
    KEGG Compound ID:
    C00187C01356
  • Genomic Variation --- SNP
  • Data is integrated from dbSNP and HapMap, with functionally annotated by ANNOVAR
    Note: heterozygosity is not actually estimated from 1KG data, but is put in the same line for more compact representation.
    dbSNP rsIDchrpositionpop.alleleallele countfrequencyHapMap pop. diff.genotypegenotype count (frequency) functional annotation
    rs668033 11 119023107 ASW C / A 41 / 69 FET lg p = -52.19

    max diff AF = 0.596
    C/C / A/C / A/A 10 / 21 / 24 intronic: ABCG4
    CEU 104 / 112 22 / 60 / 26
    CHB 81 / 9 37 / 7 / 1
    GIH 149 / 49 59 / 31 / 9
    JPT 76 / 14 32 / 12 / 1
    LWK 65 / 149 7 / 51 / 49
    MKK 114 / 192 23 / 68 / 62
    TSI 112 / 90 32 / 48 / 21
    YRI 92 / 198 11 / 70 / 64
    1KG A (minor)964 in 2178 = 0.44261 heterozygosity = 0.49341, with SE = 0.05701
    rs626776 11 119028813 CEU G / C 90 / 38 FET lg p = -6.64

    max diff AF = 0.249
    G/G / C/G / C/C 29 / 32 / 3 intronic: ABCG4
    CHB 81 / 9 37 / 7 / 1
    JPT 70 / 18 27 / 16 / 1
    YRI 120 / 6 58 / 4 / 1
    1KG C (minor)525 in 2178 = 0.24105 heterozygosity = 0.36589, with SE = 0.22152
    rs485030 11 119029849 1KG T (minor)622 in 2178 = 0.28558 heterozygosity = 0.40805, with SE = 0.19370 intronic: ABCG4
    rs674424 11 119030752 ASW C / T 109 / 5 FET lg p = -34.27

    max diff AF = 0.289
    C/C / C/T / T/T 52 / 5 / 0 intronic: ABCG4
    CEU 155 / 63 56 / 43 / 10
    CHB 255 / 17 119 / 17 / 0
    CHD 206 / 12 97 / 12 / 0
    JPT 200 / 22 89 / 22 / 0
    LWK 219 / 1 109 / 1 / 0
    MKK 294 / 14 140 / 14 / 0
    TSI 149 / 49 58 / 33 / 8
    YRI 126 / 0 63 / 0 / 0
    1KG T (minor)361 in 2178 = 0.16575 heterozygosity = 0.27655, with SE = 0.24859
    rs3802885 11 119032689 ASW A / C 84 / 28 FET lg p = -33.95

    max diff AF = 0.298
    A/A / A/C / C/C 30 / 24 / 2 UTR3: ABCG4
    CEU 207 / 17 95 / 17 / 0
    CHB 242 / 32 107 / 28 / 2
    CHD 185 / 33 79 / 27 / 3
    GIH 130 / 72 43 / 44 / 14
    JPT 199 / 27 86 / 27 / 0
    LWK 142 / 78 45 / 52 / 13
    MEX 104 / 12 46 / 12 / 0
    MKK 255 / 55 105 / 45 / 5
    TSI 187 / 17 86 / 15 / 1
    YRI 184 / 110 55 / 74 / 18
    1KG C (minor)345 in 2178 = 0.15840 heterozygosity = 0.26662, with SE = 0.24945
    Limited to 5 records in this page. Click here to view more.
  • Genomic Variation --- CNV
  • Haplotype Information
  • Data links to UCSC Genome Browser
    ContentHyperlinkDemo example
    HapMap LD Structure (hg18)UCSC
    1000 Genomes Phase I Haplotype Clustering (hg19)UCSC
    Gene Haplotype Allele (hg19)UCSC
  • ENCODE TFBS (Transcription Factor Binding Sites) Information
  • Epigenetic Information
  • Gene Ontology (GO)
  • Protein Sequence & Features
  • Protein Domain Information
  • Protein-Protein Interaction
  • UniGene EST Expression Data
  • Allen Brain Atlas - Mouse Brain Expression Data
  • RNA-seq Expression Data
  • External Links
  • EntrezGeneID 64137
    Gene Symbol and
    Genome Browser
    ABCG4
    UCSC Ensembl
    mRNA NM_001142505; NM_022169
    protein NP_001135977; NP_071452
    Ensembl ENST00000307417; ENSP00000304111; ENSG00000172350; ENST00000449422; ENSP00000406874; ENSG00000172350
    HPRD 12130
    UniProt Accession Q9H172
    GeneCards GC11P119019
    UniGene Hs.126378
    HomoloGene 75179
    EMBL AJ308237; AK289830; AK290035; CH471065; BC041091; AJ300465
    PIR JC7777; JC7777
    IPI IPI00005579
    PRIDE Q9H172
    STRING Q9H172
    OMIM 607784
    PharmGKB PA24410
    Reactome REACT_15518