GeneID = 81623 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 81623
    Gene Symbol DEFB126
    Aliases C20orf8,DEFB-26,DEFB26,ESP13.2,bA530N10.1,hBD-26
    Description defensin, beta 126
    Organism Homo sapiens
    Location 20p13
    Genomic position NC_000020.10 123251-126391 plus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q9BYW3
  • KOBAS Annotation (Pathway/Disease Annotation)
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • TaxicoGenetics Related Chemicals/Diseases/Pathways
  • Known Drugs in DrugBank
  • Transporter Substrate Information
  • 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
    rs6085546 20 123455 CEU C / T 126 / 0 FET lg p = 0.00

    max diff AF = 0.000
    C/C / C/T / T/T 63 / 0 / 0 intronic: DEFB126
    CHB 90 / 0 45 / 0 / 0
    JPT 90 / 0 45 / 0 / 0
    YRI 126 / 0 63 / 0 / 0
    1KG heterozygosity = 0.00000, with SE = 0.00000
    rs6038524 20 124211 CEU G / A 128 / 0 FET lg p = 0.00

    max diff AF = 0.000
    G/G / A/G / A/A 64 / 0 / 0 intronic: DEFB126
    CHB 90 / 0 45 / 0 / 0
    JPT 90 / 0 45 / 0 / 0
    YRI 126 / 0 63 / 0 / 0
    1KG heterozygosity = 0.00000, with SE = 0.00000
    rs6038528 20 124302 ASW A / C 54 / 60 FET lg p = -74.95

    max diff AF = 0.491
    A/A / A/C / C/C 13 / 28 / 16 intronic: DEFB126
    CEU 186 / 40 75 / 36 / 2
    CHB 213 / 59 81 / 51 / 4
    CHD 170 / 44 69 / 32 / 6
    GIH 143 / 59 54 / 35 / 12
    JPT 190 / 36 79 / 32 / 2
    LWK 77 / 143 13 / 51 / 46
    MEX 95 / 21 37 / 21 / 0
    MKK 139 / 171 34 / 71 / 50
    TSI 155 / 49 55 / 45 / 2
    YRI 112 / 180 21 / 70 / 55
    1KG C (minor)618 in 2178 = 0.28375 heterozygosity = 0.40647, with SE = 0.19498
    rs6054328 20 124412 CEU C / T 102 / 28 FET lg p = -10.86

    max diff AF = 0.380
    C/C / C/T / T/T 39 / 24 / 2 intronic: DEFB126
    CHB 68 / 22 25 / 18 / 2
    JPT 69 / 19 26 / 17 / 1
    YRI 51 / 75 11 / 29 / 23
    1KG T (minor)619 in 2178 = 0.28421 heterozygosity = 0.40687, with SE = 0.19466
    rs1342137 20 125121 ASW C / T 82 / 30 FET lg p = -19.72

    max diff AF = 0.277
    C/C / C/T / T/T 32 / 18 / 6 intronic: DEFB126
    CEU 128 / 98 33 / 62 / 18
    CHB 219 / 55 88 / 43 / 6
    CHD 172 / 46 64 / 44 / 1
    GIH 116 / 86 33 / 50 / 18
    JPT 159 / 65 55 / 49 / 8
    LWK 178 / 42 73 / 32 / 5
    MEX 83 / 33 30 / 23 / 5
    MKK 263 / 49 112 / 39 / 5
    TSI 119 / 85 34 / 51 / 17
    YRI 231 / 63 93 / 45 / 9
    1KG T (minor)664 in 2178 = 0.30487 heterozygosity = 0.42385, with SE = 0.17966
    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_2249 chr20:89211-278388 U E CopyNumber 0 4 4 16826518
    Variation_9313 chr20:69408-213523 U E CopyNumber 1 1 17911159
  • 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
  • Data comes from UCSC and ENCODE
    ChrStartEndTF nameScoreCell typesSNPs (rsIDs)
  • 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 81623
    Gene Symbol and
    Genome Browser
    DEFB126
    UCSC Ensembl
    mRNA NM_030931
    protein NP_112193
    Ensembl ENST00000382398; ENSP00000371835; ENSG00000125788
    HPRD 10876
    UniProt Accession Q9BYW3
    GeneCards GC20P000071
    UniGene Hs.124211
    HomoloGene 49954
    EMBL AJ236910; AF525928; AL360078; AY122478
    IPI IPI00307734
    PRIDE Q9BYW3
    STRING Q9BYW3
    PharmGKB PA27246
    Reactome REACT_6900