GeneID = 496 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 496
    Gene Symbol ATP4B
    Aliases ATP6B
    Description ATPase, H+/K+ exchanging, beta polypeptide
    Organism Homo sapiens
    Location 13q34
    Genomic position NC_000013.10 114303118-114312512 minus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession P51164
    Mammalian Homolog
    (GeneID)
    mouse : 11945
    rat : 24217
  • KOBAS Annotation (Pathway/Disease Annotation)
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • Data comes from PharmGKB PA25114
    PharmGKB AccessionClassName / Gene Symbol (Entrez Gene ID)
    PA164713207 Drug Proton pump inhibitors
    PA10075 Drug esomeprazole
    PA450180 Drug lansoprazole
    PA450704 Drug omeprazole
    PA450774 Drug pantoprazole
    PA451216 Drug rabeprazole
    PA145007158 Drug torcetrapib
    PA444255 Disease Gastroesophageal Reflux
    PA447240 Disease Peptic Ulcer
  • TaxicoGenetics Related Chemicals/Diseases/Pathways
  • Known Drugs in DrugBank
  • Transporter Substrate Information
  • Data comes from (unpublished integrated data)
    KEGG Compound ID:
    C00080C00238C00282C01330
  • 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
    rs6577060 13 114303006 ASW C / A 77 / 37 FET lg p = -4.77

    max diff AF = 0.210
    C/C / A/C / A/A 26 / 25 / 6 downstream: ATP4B
    CEU 144 / 82 48 / 48 / 17
    CHB 194 / 80 65 / 64 / 8
    CHD 151 / 67 51 / 49 / 9
    GIH 138 / 64 46 / 46 / 9
    JPT 173 / 51 68 / 37 / 7
    LWK 139 / 81 44 / 51 / 15
    MEX 66 / 50 15 / 36 / 7
    MKK 243 / 69 95 / 53 / 8
    TSI 147 / 57 51 / 45 / 6
    YRI 182 / 108 58 / 66 / 21
    1KG A (minor)663 in 2178 = 0.30441 heterozygosity = 0.42349, with SE = 0.18001
    rs4074271 13 114305405 1KG G (minor)454 in 2178 = 0.20845 heterozygosity = 0.32999, with SE = 0.23686 intronic: ATP4B
    rs4076410 13 114305732 1KG A (minor)436 in 2178 = 0.20018 heterozygosity = 0.32022, with SE = 0.23994 intronic: ATP4B
    rs9324254 13 114312000 ASW G / A 77 / 37 FET lg p = -18.13

    max diff AF = 0.280
    G/G / A/G / A/A 26 / 25 / 6 intronic: ATP4B
    CEU 122 / 104 37 / 48 / 28
    CHB 145 / 129 44 / 57 / 36
    CHD 105 / 113 28 / 49 / 32
    GIH 126 / 76 42 / 42 / 17
    JPT 127 / 99 34 / 59 / 20
    LWK 158 / 62 56 / 46 / 8
    MEX 70 / 46 22 / 26 / 10
    MKK 237 / 75 87 / 63 / 6
    TSI 106 / 98 28 / 50 / 24
    YRI 224 / 70 82 / 60 / 5
    1KG A (minor)840 in 2178 = 0.38567 heterozygosity = 0.47386, with SE = 0.11130
    rs9285616 13 114312354 1KG T (minor)0 in 2178 = 0.00000 heterozygosity = 0.00000, with SE = 0.00000 exonic: ATP4B

    synonymous SNV: ATP4B, NM_000705, exon1, c.A106A, p.R36R
    Limited to 5 records in this page. Click here to view more.
  • Genomic Variation --- CNV
  • Data comes from DGV
    Variation IDPositionVar. TypeGainLossTotal GL InvPubMed
    Variation_4820 chr13:114213408-114317403 U E CopyNumber 0 3 3 17160897
  • 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 496
    Gene Symbol and
    Genome Browser
    ATP4B
    UCSC Ensembl
    mRNA NM_000705
    protein NP_000696
    Ensembl ENST00000335288; ENSP00000334216; ENSG00000186009
    HPRD 00669
    UniProt Accession P51164
    GeneCards GC13M114303
    UniGene Hs.434202
    HomoloGene 20182
    EMBL M75110; BX537316; CH471085; BC029059; AB008783
    PIR JH0480; JH0480
    IPI IPI00016421
    PRIDE P51164
    STRING P51164
    TCDB 3.A.3.1.2
    OMIM 137217
    PharmGKB PA25114
    BioCyc MetaCyc:G66-33511-MONOMER
    Reactome REACT_15518