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    DEFB130B defensin beta 130B [ Homo sapiens (human) ]

    Gene ID: 100133267, updated on 8-Mar-2024

    Summary

    Official Symbol
    DEFB130Bprovided by HGNC
    Official Full Name
    defensin beta 130Bprovided by HGNC
    Primary source
    HGNC:HGNC:39814
    See related
    Ensembl:ENSG00000233050 AllianceGenome:HGNC:39814
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable CCR6 chemokine receptor binding activity and chemoattractant activity. Involved in antimicrobial humoral immune response mediated by antimicrobial peptide; cytolysis by host of symbiont cells; and defense response to protozoan. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

    Location:
    8p23.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (12064389..12071747, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (7662435..7669789)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11921898..11929256, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379245 Neighboring gene olfactory receptor family 7 subfamily E member 160 pseudogene Neighboring gene defensin beta 131E (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11871185-11871846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11873134-11873664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11879796-11880328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11888763-11889262 Neighboring gene uncharacterized LOC105379246 Neighboring gene defensin beta 131C (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11946257-11946756 Neighboring gene RNA, 5S ribosomal pseudogene 253 Neighboring gene zinc finger protein 705D Neighboring gene defensin beta 108D (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

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CCR6 chemokine receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chemoattractant activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in cell chemotaxis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    beta-defensin 130B
    Names
    beta-defensin 130-like
    defensin, beta 130-like

    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_001195257.1NP_001182186.1  beta-defensin 130B precursor

      See identical proteins and their annotated locations for NP_001182186.1

      Status: VALIDATED

      Source sequence(s)
      AC130366
      Consensus CDS
      CCDS56524.1
      UniProtKB/Swiss-Prot
      P0DP73, P0DP74, Q30KQ2
      Related
      ENSP00000392568.1, ENST00000437818.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      12064389..12071747 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      7662435..7669789
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)