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DEFB119 defensin beta 119 [ Homo sapiens (human) ]

Gene ID: 245932, updated on 5-Mar-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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Location:
20q11.21
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (31377163..31390649, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33101347..33114830, complement)
105.20220307 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
  2. Defensins of vertebrate animals. Lehrer RI, et al. Curr Opin Immunol, 2002 Feb. PMID 11790538
  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. 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
  5. Testis-specific expression of a novel mouse defensin-like gene, Tdl. Yamamoto M, et al. Mech Dev, 2002 Aug. PMID 12128228

See all (15) 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)

Genotypes

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in antifungal innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in defense response to Gram-negative bacterium IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in defense response to Gram-positive bacterium IBA
Inferred from Biological aspect of Ancestor
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 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

    Description
    Transcript Variant: This variant (1) contains an alternate 3' exon, compared to variant 3 resulting in a different 3' coding region and 3' UTR. The encoded isoform (a) is shorter and has a distinct C-terminus, compared to isoform c.
    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_2023_10

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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