GeneID = 140881 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 140881
    Gene Symbol DEFB129
    Aliases C20orf87,DEFB-29,DEFB29,bA530N10.3,hBD-29
    Description defensin, beta 129
    Organism Homo sapiens
    Location 20p13
    Genomic position NC_000020.10 207898-210526 plus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q9H1M3
    Mammalian Homolog
    (GeneID)
    mouse : 629114
    rat : 641621
  • 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
    rs4813167 20 207416 1KG T (minor)862 in 2178 = 0.39578 heterozygosity = 0.47828, with SE = 0.10193 upstream: DEFB129
    rs2298149 20 207889 ASW G / A 104 / 10 FET lg p = -39.84

    max diff AF = 0.398
    G/G / A/G / A/A 47 / 10 / 0 upstream: DEFB129
    CEU 130 / 96 38 / 54 / 21
    CHB 207 / 67 78 / 51 / 8
    CHD 163 / 55 64 / 35 / 10
    GIH 124 / 78 35 / 54 / 12
    JPT 161 / 65 51 / 59 / 3
    LWK 214 / 6 105 / 4 / 1
    MEX 78 / 38 25 / 28 / 5
    MKK 276 / 36 122 / 32 / 2
    TSI 126 / 78 39 / 48 / 15
    1KG A (minor)603 in 2178 = 0.27686 heterozygosity = 0.40042, with SE = 0.19969
    rs2298148 20 207903 CEU T / C 103 / 9 FET lg p = -6.74

    max diff AF = 0.266
    T/T / C/T / C/C 47 / 9 / 0 UTR5: DEFB129
    CHB 68 / 18 28 / 12 / 3
    JPT 82 / 8 37 / 8 / 0
    YRI 81 / 43 28 / 25 / 9
    1KG C (minor)384 in 2178 = 0.17631 heterozygosity = 0.29045, with SE = 0.24671
    rs6074833 20 209851 ASW C / T 71 / 41 FET lg p = -27.76

    max diff AF = 0.306
    C/C / C/T / T/T 22 / 27 / 7 intronic: DEFB129
    CEU 206 / 20 93 / 20 / 0
    CHB 219 / 53 89 / 41 / 6
    CHD 178 / 40 74 / 30 / 5
    GIH 169 / 33 71 / 27 / 3
    JPT 195 / 31 85 / 25 / 3
    LWK 141 / 79 43 / 55 / 12
    MEX 107 / 7 51 / 5 / 1
    MKK 223 / 89 85 / 53 / 18
    TSI 182 / 22 83 / 16 / 3
    YRI 186 / 108 62 / 62 / 23
    1KG T (minor)385 in 2178 = 0.17677 heterozygosity = 0.29104, with SE = 0.24661
    rs1053783 20 210306 CEU C / G 120 / 10 FET lg p = -9.75

    max diff AF = 0.360
    C/C / C/G / G/G 55 / 10 / 0 exonic: DEFB129

    nonsynonymous SNV: DEFB129, NM_080831, exon2, c.C446G, p.T149S

    SIFT score = 0.09

    PolyPhen2 score = 0.93
    CHB 70 / 20 28 / 14 / 3
    JPT 72 / 16 28 / 16 / 0
    YRI 71 / 55 22 / 27 / 14
    1KG G (minor)457 in 2178 = 0.20983 heterozygosity = 0.33160, with SE = 0.23631
    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 140881
    Gene Symbol and
    Genome Browser
    DEFB129
    UCSC Ensembl
    mRNA NM_080831
    protein NP_543021
    Ensembl ENST00000246105; ENSP00000246105; ENSG00000125903
    HPRD 10878
    UniProt Accession Q9H1M3
    GeneCards GC20P000155
    UniGene Hs.112087
    HomoloGene 83411
    EMBL AF529413; AF525931; AY358186; AL360078; BC070359; AY122480
    IPI IPI00015238
    PRIDE Q9H1M3
    STRING Q9H1M3
    PharmGKB PA27248
    Reactome REACT_6900