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    DEFB104A defensin beta 104A [ Homo sapiens (human) ]

    Gene ID: 140596, updated on 19-May-2018
    Official Symbol
    DEFB104Aprovided by HGNC
    Official Full Name
    defensin beta 104Aprovided by HGNC
    Primary source
    HGNC:HGNC:18115
    See related
    Ensembl:ENSG00000176782 Vega:OTTHUMG00000150014
    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
    BD-4; DEFB4; hBD-4; DEFB-4; DEFB104
    Summary
    Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    See DEFB104A in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (7836471..7841242)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (7693993..7698764)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene defensin beta 105A Neighboring gene defensin beta 106A Neighboring gene sperm associated antigen 11A Neighboring gene defensin beta 103A

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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
    Products Interactant Other Gene Complex Source Pubs Description

    Homology

    Clone Names

    • MGC118942, MGC118944, MGC118945

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chemoattractant activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to phorbol 13-acetate 12-myristate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to Gram-negative bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to Gram-positive bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to Gram-positive bacterium IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    defense response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    monocyte chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    beta-defensin 104
    Names
    defensin, beta 4

    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.

    Genomic

    1. NG_033023.1 RefSeqGene

      Range
      5001..9772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_080389.2NP_525128.2  beta-defensin 104 precursor

      See identical proteins and their annotated locations for NP_525128.2

      Status: REVIEWED

      Source sequence(s)
      BC100851
      Consensus CDS
      CCDS34834.1
      UniProtKB/Swiss-Prot
      Q8WTQ1
      Related
      ENSP00000320813.2, OTTHUMP00000195979, ENST00000314265.2, OTTHUMT00000315761
      Conserved Domains (1) summary
      pfam13841
      Location:2958
      Defensin_beta_2; Beta defensin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      7836471..7841242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p12 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p12 PATCHES

      Range
      744268..749041
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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