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    DEFB130A defensin beta 130A [ Homo sapiens (human) ]

    Gene ID: 245940, updated on 5-Mar-2024

    Summary

    Official Symbol
    DEFB130Aprovided by HGNC
    Official Full Name
    defensin beta 130Aprovided by HGNC
    Primary source
    HGNC:HGNC:18107
    See related
    Ensembl:ENSG00000232948 AllianceGenome:HGNC:18107
    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
    DEFB30; DEFB-30; DEFB130; DEFB130L
    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
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    Genomic context

    See DEFB130A in Genome Data Viewer
    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 (12310962..12318316, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (12168471..12175825, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12070506-12071007 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 12 Neighboring gene defensin beta 131D (pseudogene) Neighboring gene RNA, 5S ribosomal pseudogene 254 Neighboring gene defensin beta 108E (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 Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    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 130A
    Names
    beta-defensin 130
    beta-defensin 30
    defensin beta 130
    defensin, beta 30

    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_001037804.1NP_001032893.1  beta-defensin 130A precursor

      See identical proteins and their annotated locations for NP_001032893.1

      Status: REVIEWED

      Source sequence(s)
      DQ012022
      Consensus CDS
      CCDS43714.1
      UniProtKB/Swiss-Prot
      P0DP73, P0DP74, Q30KQ2
      Related
      ENSP00000382951.1, ENST00000400079.1

    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
      12310962..12318316 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      1270186..1277539
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)