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    DEFB136 defensin beta 136 [ Homo sapiens (human) ]

    Gene ID: 613210, updated on 17-Jun-2019

    Summary

    Official Symbol
    DEFB136provided by HGNC
    Official Full Name
    defensin beta 136provided by HGNC
    Primary source
    HGNC:HGNC:34433
    See related
    Ensembl:ENSG00000205884
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DEFB137
    Summary
    Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See DEFB136 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (11973937..11974599, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11831446..11832108, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene tRNA-Glu (CTC) 11-1 Neighboring gene uncharacterized LOC105379244 Neighboring gene uncharacterized LOC112268017 Neighboring gene defensin beta 135 Neighboring gene nuclear receptor binding SET domain protein 3 pseudogene Neighboring gene defensin beta 134 Neighboring gene olfactory receptor family 7 subfamily E member 160 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Antimicrobial peptides, organism-specific biosystem (from REACTOME)
      Antimicrobial peptides, organism-specific biosystemAntimicrobial peptides (AMPs) are small molecular weight proteins with broad spectrum of antimicrobial activity against bacteria, viruses, and fungi (Zasloff M 2002; Radek K & Gallo R 2007). The majo...
    • Beta defensins, organism-specific biosystem (from REACTOME)
      Beta defensins, organism-specific biosystemHumans have 38 beta-defensin genes plus 9-10 pseudogenes (details available on the HGNC website at http://www.genenames.org/genefamilies/DEFB). Many beta-defensins are encoded by recently duplicated ...
    • Defensins, organism-specific biosystem (from REACTOME)
      Defensins, organism-specific biosystemThe defensins are a family of antimicrobial cationic peptide molecules which in mammals have a characteristic beta-sheet-rich fold and framework of six disulphide-linked cysteines (Selsted & Ouellet...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    defense response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    beta-defensin 136
    Names
    beta-defensin 137

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001033018.2NP_001028190.2  beta-defensin 136 precursor

      See identical proteins and their annotated locations for NP_001028190.2

      Status: REVIEWED

      Source sequence(s)
      DQ012026
      Consensus CDS
      CCDS43709.1
      UniProtKB/Swiss-Prot
      Q30KP8
      Related
      ENSP00000371644.2, ENST00000382209.2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      11973937..11974599 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p13 PATCHES

      Range
      1373422..1374084
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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