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    DEFB114 defensin beta 114 [ Homo sapiens (human) ]

    Gene ID: 245928, updated on 10-Dec-2024

    Summary

    Official Symbol
    DEFB114provided by HGNC
    Official Full Name
    defensin beta 114provided by HGNC
    Primary source
    HGNC:HGNC:18095
    See related
    Ensembl:ENSG00000177684 MIM:615243; AllianceGenome:HGNC:18095
    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
    DEFB14; DEFB-14
    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. The protein encoded by this gene is a beta-defensin with antimicrobial activity against E. coli, S. aureus, and C. albicans. The encoded protein also binds and neutralizes lipopolysaccharide (LPS), a factor involved in inflammatory diseases and male reproductive issues. [provided by RefSeq, Nov 2014]
    Orthologs
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    Genomic context

    See DEFB114 in Genome Data Viewer
    Location:
    6p12.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (49960249..49964164, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (49803143..49807058, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (49927962..49931877, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cysteine rich secretory protein 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:49859209-49860408 Neighboring gene MPRA-validated peak5842 silencer Neighboring gene defensin beta 133 (pseudogene) Neighboring gene MPRA-validated peak5843 silencer Neighboring gene defensin beta 113 Neighboring gene defensin beta 110

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CCR6 chemokine receptor binding  
    enables chemoattractant activity  
    enables lipopolysaccharide binding PubMed 
    Component Evidence Code Pubs
    is_active_in extracellular space  

    General protein information

    Preferred Names
    beta-defensin 114
    Names
    beta-defensin 14
    defensin, beta 14

    NCBI Reference Sequences (RefSeq)

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    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_001037499.2NP_001032588.1  beta-defensin 114 precursor

      See identical proteins and their annotated locations for NP_001032588.1

      Status: REVIEWED

      Source sequence(s)
      AL138879
      Consensus CDS
      CCDS34474.1
      UniProtKB/Swiss-Prot
      Q30KQ6, Q8NES9
      Related
      ENSP00000312702.3, ENST00000322066.4

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      49960249..49964164 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      49803143..49807058 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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