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    DEFB123 defensin beta 123 [ Homo sapiens (human) ]

    Gene ID: 245936, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Identification, characterization, and evolution of a primate beta-defensin gene cluster. Radhakrishnan Y, et al. Genes Immun, 2005 May. PMID 15772680, Free PMC Article
    2. Discovery of five conserved beta -defensin gene clusters using a computational search strategy. Schutte BC, et al. Proc Natl Acad Sci U S A, 2002 Feb 19. PMID 11854508, Free PMC Article
    3. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The protein encoded by this gene is thought to display antimicrobial activity.
      Title: Identification, characterization, and evolution of a primate beta-defensin gene cluster.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in defense response to Gram-negative bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    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_153324.4 → NP_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:24 → 53
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N688.1 GenPept UniProtKB/Swiss-Prot:Q8N688

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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