GeneID = 23439 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 23439
    Gene Symbol ATP1B4
    Description ATPase, Na+/K+ transporting, beta 4 polypeptide
    Organism Homo sapiens
    Location Xq24
    Genomic position NC_000023.10 119495939-119517103 plus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q9UN42
    Mammalian Homolog
    (GeneID)
    mouse : 67821
    rat : 84396
  • KOBAS Annotation (Pathway/Disease Annotation)
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • TaxicoGenetics Related Chemicals/Diseases/Pathways
  • Known Drugs in DrugBank
  • Transporter Substrate Information
  • Data comes from (unpublished integrated data)
    KEGG Compound ID:
    C00238C01330
  • 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
    rs2072452 X 119500459 CEU T / C 101 / 0 FET lg p = -28.08

    max diff AF = 0.266
    T/T / C/T / C/C 65 / 0 / 0 exonic: ATP1B4

    nonsynonymous SNV: ATP1B4, NM_001142447, exon2, c.T143C, p.V48A; ATP1B4, NM_012069, exon2, c.T143C, p.V48A

    SIFT score = 0.43

    PolyPhen2 score = 0.00
    CHB 180 / 41 98 / 25 / 14
    CHD 139 / 29 82 / 14 / 13
    GIH 139 / 2 96 / 1 / 1
    JPT 124 / 45 72 / 24 / 17
    MEX 78 / 8 48 / 7 / 1
    MKK 226 / 1 151 / 0 / 1
    YRI 98 / 0 63 / 0 / 0
    1KG C (minor)109 in 1654 = 0.06590 heterozygosity = 0.12312, with SE = 0.21541
    rs1860995 X 119502122 ASW T / C 77 / 5 FET lg p = -9.38

    max diff AF = 0.333
    T/T / C/T / C/C 48 / 2 / 3 intronic: ATP1B4
    CEU 89 / 11 54 / 5 / 5
    CHB 46 / 22 23 / 16 / 6
    JPT 40 / 26 20 / 13 / 11
    LWK 140 / 20 86 / 9 / 10
    TSI 121 / 22 77 / 12 / 9
    YRI 196 / 16 126 / 11 / 5
    1KG C (minor)357 in 1654 = 0.21584 heterozygosity = 0.33851, with SE = 0.23381
    rs2075099 X 119504439 ASW G / A 82 / 8 FET lg p = -75.46

    max diff AF = 0.462
    G/G / A/G / A/A 50 / 6 / 1 intronic: ATP1B4
    CEU 147 / 22 92 / 11 / 10
    CHB 117 / 104 48 / 43 / 46
    CHD 91 / 77 44 / 28 / 37
    GIH 130 / 14 87 / 10 / 4
    JPT 94 / 73 54 / 23 / 35
    MEX 66 / 22 37 / 16 / 5
    MKK 231 / 2 154 / 2 / 0
    TSI 136 / 15 87 / 12 / 3
    YRI 217 / 3 143 / 2 / 1
    1KG A (minor)323 in 1654 = 0.19528 heterozygosity = 0.31430, with SE = 0.24159
    rs2227305 X 119513629 ASW A / C 78 / 10 FET lg p = -4.24

    max diff AF = 0.121
    A/A / A/C / C/C 47 / 6 / 3 UTR3: ATP1B4
    CEU 101 / 0 65 / 0 / 0
    CHB 202 / 7 124 / 2 / 5
    CHD 159 / 9 100 / 5 / 4
    GIH 141 / 3 98 / 1 / 2
    JPT 58 / 8 36 / 5 / 3
    LWK 153 / 15 94 / 6 / 9
    MEX 81 / 1 54 / 1 / 0
    MKK 212 / 7 142 / 0 / 7
    YRI 89 / 9 54 / 6 / 3
    1KG C (minor)81 in 1654 = 0.04897 heterozygosity = 0.09315, with SE = 0.19467
    rs2192257 X 119516903 ASW G / A 8 / 82 FET lg p = -93.39

    max diff AF = 0.765
    G/G / A/G / A/A 2 / 5 / 50 UTR3: ATP1B4
    CEU 140 / 28 86 / 15 / 11
    CHB 108 / 113 48 / 42 / 47
    CHD 85 / 83 41 / 30 / 38
    GIH 64 / 80 30 / 32 / 39
    JPT 63 / 102 27 / 28 / 56
    LWK 27 / 143 9 / 18 / 83
    MEX 48 / 40 23 / 17 / 18
    MKK 78 / 150 33 / 39 / 81
    TSI 129 / 22 83 / 10 / 9
    YRI 25 / 197 8 / 17 / 122
    1KG A (minor)757 in 1654 = 0.45768 heterozygosity = 0.49642, with SE = 0.04217
    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 23439
    Gene Symbol and
    Genome Browser
    ATP1B4
    UCSC Ensembl
    mRNA NM_001142447; NM_012069
    protein NP_001135919; NP_036201
    Ensembl ENST00000218008; ENSP00000218008; ENSG00000101892
    HPRD 06453
    UniProt Accession Q9UN42
    GeneCards GC0XP119495
    UniGene Hs.292599
    HomoloGene 22691
    EMBL AF158383; AF158384; BC117227
    IPI IPI00013724; IPI00220387
    PRIDE Q9UN42
    PharmGKB PA410