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    DEFB119 defensin beta 119 [ Homo sapiens (human) ]

    Gene ID: 245932, updated on 9-Dec-2024

    Summary

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    Official Symbol
    DEFB119provided by HGNC
    Official Full Name
    defensin beta 119provided by HGNC
    Primary source
    HGNC:HGNC:18099
    See related
    Ensembl:ENSG00000180483 MIM:615997; AllianceGenome:HGNC:18099
    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
    DEFB20; DEFB-19; DEFB-20; DEFB120; ESC42-RELA; ESC42-RELB
    Summary
    This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
    Expression
    Restricted expression toward testis (RPKM 62.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See DEFB119 in Genome Data Viewer
    Location:
    20q11.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (31377163..31390649, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33101347..33114830, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (29964966..29978452, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene defensin beta 118 Neighboring gene small nucleolar RNA SNORA40 Neighboring gene defensin beta 121 Neighboring gene defensin beta 122 (pseudogene)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Human beta-defensins. Pazgier M, et al. Cell Mol Life Sci, 2006 Jun. PMID 16710608, Free PMC Article
    2. Production and characterization of recombinant human beta-defensin DEFB120. Liu H, et al. J Pept Sci, 2014 Apr. PMID 24449502
    3. Current status of defensins and their role in innate and adaptive immunity. Raj PA, et al. FEMS Microbiol Lett, 2002 Jan 2. PMID 11786250
    4. Defensins of vertebrate animals. Lehrer RI, et al. Curr Opin Immunol, 2002 Feb. PMID 11790538
    5. β-Defensin 19/119 mediates sperm chemotaxis and is associated with idiopathic infertility. Li X, et al. Cell Rep Med, 2022 Dec 20. PMID 36513070, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. beta-Defensin 19/119 mediates sperm chemotaxis and is associated with idiopathic infertility.
      Title: β-Defensin 19/119 mediates sperm chemotaxis and is associated with idiopathic infertility.
    2. A couple of isoforms encoded by this gene are thought to display antimicrobial activity.
      Title: Identification, characterization, and evolution of a primate beta-defensin gene cluster.
    3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Risk of meningioma and common variation in genes related to innate immunity.
    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

    Clone Names

    • MGC71893

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipopolysaccharide binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in antifungal innate immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in defense response to Gram-negative bacterium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in defense response to Gram-negative bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in defense response to Gram-positive bacterium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in defense response to Gram-positive bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 119
    Names
    defensin, beta 120
    defensin, beta 19
    defensin, beta 20

    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_001271209.2 → NP_001258138.1  beta-defensin 119 isoform d precursor

      See identical proteins and their annotated locations for NP_001258138.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 3' exon, compared to variant 3. Then encoded isoform (d) is shorter than isoform c. Isoform d is thought to be an antimicrobial peptide.
      Source sequence(s)
      AF479699, AY122473, HY035342
      UniProtKB/TrEMBL
      Q5GRG0
      Conserved Domains (1) summary
      pfam13841
      Location:21 → 49
      Defensin_beta_2; Beta defensin

    2. NM_153289.4 → NP_695021.2  beta-defensin 119 isoform a precursor

      See identical proteins and their annotated locations for NP_695021.2

      Status: REVIEWED

      Source sequence(s)
      AL121751, AY122472, BU561156, HY035342
      Consensus CDS
      CCDS13178.1
      UniProtKB/Swiss-Prot
      Q5GRG1, Q5JWP1, Q5TH42, Q8N689, Q8N690
      Related
      ENSP00000365499.3, ENST00000376321.4
      Conserved Domains (1) summary
      pfam14862
      Location:14 → 50
      Defensin_big; Big defensin

    3. NM_153323.5 → NP_697018.1  beta-defensin 119 isoform c precursor

      See identical proteins and their annotated locations for NP_697018.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (c). Isoform c is thought to be an antimicrobial peptide.
      Source sequence(s)
      AY122473, BC062212
      Consensus CDS
      CCDS33455.1
      UniProtKB/Swiss-Prot
      Q8N690
      Related
      ENSP00000365492.2, ENST00000376315.2
      Conserved Domains (1) summary
      pfam13841
      Location:22 → 50
      Defensin_beta_2; Beta defensin

    RNA

    1. NR_073151.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because it lacks most of the in-frame ORF, compared to variant 3.
      Source sequence(s)
      AL031650, AL121751, AL732301, BU561156, HY035342
      Related
      ENST00000492344.1

    2. NR_073152.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BU561156, HY035342

    3. NR_073153.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AY501001, BU561156, HY035342
      Related
      ENST00000339144.3

    4. NR_126440.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains an alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because it lacks most of the in-frame ORF, compared to variant 3.
      Source sequence(s)
      AW003815, BU561156, HY035342

    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
      31377163..31390649 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      33101347..33114830 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N690.2 GenPept UniProtKB/Swiss-Prot:Q8N690

    Gene LinkOut

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

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