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    DEFB124 defensin beta 124 [ Homo sapiens (human) ]

    Gene ID: 245937, updated on 3-Nov-2024

    Summary

    Official Symbol
    DEFB124provided by HGNC
    Official Full Name
    defensin beta 124provided by HGNC
    Primary source
    HGNC:HGNC:18104
    See related
    Ensembl:ENSG00000180383 AllianceGenome:HGNC:18104
    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
    DEFB-24
    Summary
    Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein 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 20q11.1. The encoded protein may serve to enhance innate immunity in the prostate. [provided by RefSeq, Nov 2014]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

    See DEFB124 in Genome Data Viewer
    Location:
    20q11.21
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (31465471..31475127, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33189588..33199376, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30053274..30062930, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene defensin beta 122 (pseudogene) Neighboring gene defensin beta 123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12756 Neighboring gene RRAD and GEM like GTPase 1 Neighboring gene long intergenic non-protein coding RNA 28

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    General protein information

    Preferred Names
    beta-defensin 124
    Names
    beta-defensin 24
    defensin, beta 24

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001037500.2NP_001032589.1  beta-defensin 124 precursor

      See identical proteins and their annotated locations for NP_001032589.1

      Status: REVIEWED

      Source sequence(s)
      AL121751
      Consensus CDS
      CCDS33457.1
      UniProtKB/Swiss-Prot
      Q30E74, Q8NES8
      Related
      ENSP00000326309.2, ENST00000317676.3
      Conserved Domains (1) summary
      pfam13841
      Location:2655
      Defensin_beta_2; Beta defensin

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      31465471..31475127 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      33189588..33199376 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)