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    DEFB123 defensin beta 123 [ Homo sapiens (human) ]

    Gene ID: 245936, updated on 28-Oct-2024

    Summary

    Official Symbol
    DEFB123provided by HGNC
    Official Full Name
    defensin beta 123provided by HGNC
    Primary source
    HGNC:HGNC:18103
    See related
    Ensembl:ENSG00000180424 MIM:616076; AllianceGenome:HGNC:18103
    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
    DEFB23; DEFB-23; ESC42-RELD
    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. Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2014]
    Expression
    Restricted expression toward testis (RPKM 33.5) See more
    Orthologs
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    Genomic context

    See DEFB123 in Genome Data Viewer
    Location:
    20q11.21
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (31440632..31450257)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33164768..33174395)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30028435..30038060)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene defensin beta 121 Neighboring gene defensin beta 122 (pseudogene) Neighboring gene defensin beta 124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12756 Neighboring gene RRAD and GEM like GTPase 1

    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 protein information

    Preferred Names
    beta-defensin 123
    Names
    beta defensin 23
    specific to testis and epididymis

    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_153324.4NP_697019.1  beta-defensin 123 precursor

      See identical proteins and their annotated locations for NP_697019.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      BX088805
      Consensus CDS
      CCDS13180.1
      UniProtKB/Swiss-Prot
      Q5GRF8, Q5J5C7, Q8N688
      Related
      ENSP00000365486.3, ENST00000376309.4
      Conserved Domains (1) summary
      pfam13841
      Location:2453
      Defensin_beta_2; Beta defensin

    RNA

    1. NR_126450.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction in the 3' end compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AL121751, AY501002, BX088805

    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
      31440632..31450257
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      33164768..33174395
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)