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    DEFB119 defensin beta 119 [ Homo sapiens (human) ]

    Gene ID: 245932, updated on 27-Nov-2024

    Summary

    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
    NEW
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    Genomic context

    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

    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

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    beta-defensin 119
    Names
    defensin, beta 120
    defensin, beta 19
    defensin, beta 20

    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_001271209.2NP_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:2149
      Defensin_beta_2; Beta defensin
    2. NM_153289.4NP_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:1450
      Defensin_big; Big defensin
    3. NM_153323.5NP_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:2250
      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)