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DEFA1A3 defensin alpha 1 and alpha 3, variable copy number locus [ Homo sapiens (human) ]

Gene ID: 613253, updated on 22-Apr-2024

Summary

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Official Symbol
DEFA1A3provided by HGNC
Official Full Name
defensin alpha 1 and alpha 3, variable copy number locusprovided by HGNC
Primary source
HGNC:HGNC:32231
Gene type
other
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DEFA1; DEFA3; DEFT1P
Annotation information
not in current annotation release
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Genomic context

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Location:
8p23.1

Bibliography

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Related articles in PubMed

  1. Segregation analysis identifies specific alpha-defensin (DEFA1A3) SNP-CNV haplotypes in predisposition to IgA nephropathy. Shwan NAA, et al. Ann Hum Genet, 2023 Mar. PMID 36214424
  2. Human neutrophil peptides 1-3 protect the murine urinary tract from uropathogenic Escherichia coli challenge. Canas JJ, et al. Proc Natl Acad Sci U S A, 2022 Oct 4. PMID 36161923, Free PMC Article
  3. Increased Gene Copy Number of DEFA1A3 Is Associated With the Severity of Ulcerative Colitis. Kanmura S, et al. Clin Transl Gastroenterol, 2021 Apr 6. PMID 33825720, Free PMC Article
  4. Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction. Ai Z, et al. Sci Transl Med, 2016 Jun 29. PMID 27358498
  5. Polymorphisms in α-Defensin-Encoding DEFA1A3 Associate with Urinary Tract Infection Risk in Children with Vesicoureteral Reflux. Schwaderer AL, et al. J Am Soc Nephrol, 2016 Oct. PMID 26940096, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DEFA1A3 DNA gene-dosage regulates the kidney innate immune response during upper urinary tract infection.
    Title: DEFA1A3 DNA gene-dosage regulates the kidney innate immune response during upper urinary tract infection.
  2. Segregation analysis identifies specific alpha-defensin (DEFA1A3) SNP-CNV haplotypes in predisposition to IgA nephropathy.
    Title: Segregation analysis identifies specific alpha-defensin (DEFA1A3) SNP-CNV haplotypes in predisposition to IgA nephropathy.
  3. Human neutrophil peptides 1-3 protect the murine urinary tract from uropathogenic Escherichia coli challenge.
    Title: Human neutrophil peptides 1-3 protect the murine urinary tract from uropathogenic Escherichia coli challenge.
  4. Increased Gene Copy Number of DEFA1A3 Is Associated With the Severity of Ulcerative Colitis.
    Title: Increased Gene Copy Number of DEFA1A3 Is Associated With the Severity of Ulcerative Colitis.
  5. Low alpha-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction
    Title: Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction.
  6. we found that DEFA1A3 is expressed in renal epithelium and not restricted to myeloid-derived cells, such as neutrophils. In conclusion, low DEFA1A3 copy number associated with recurrent urinary tract infections in subjects in the RIVUR Study randomized to prophylactic antibiotics, providing evidence that copy number polymorphisms in an antimicrobial peptide associate with urinary tract infection risk
    Title: Polymorphisms in α-Defensin-Encoding DEFA1A3 Associate with Urinary Tract Infection Risk in Children with Vesicoureteral Reflux.
  7. RTD-1 reduced the secretion of tumor necrosis factor-alpha (TNF-alpha), interleukin (IL)-1beta, and IL-8 in lipopolysaccharide (LPS)-stimulated human blood monocytes and THP-1 macrophages
    Title: Rhesus macaque θ-defensin RTD-1 inhibits proinflammatory cytokine secretion and gene expression by inhibiting the activation of NF-κB and MAPK pathways.
  8. DEFA1A3 copy numbers did not differ significantly between systemic lupus erythematosus patients and controls. DEFA1A3 copy numbers ranged from 3 to 11 in Han Chinese in Beijing and 4 to 16 in Japanese in Tokyo.
    Title: Alpha-defensin DEFA1A3 gene copy number variation in Asians and its genetic association study in Chinese systemic lupus erythematosus patients.
  9. a high DEFA1A3 copy number might be important in hindering the normal inflammatory response in CD, particularly colonic CD.
    Title: Alpha-defensin DEFA1A3 gene copy number elevation in Danish Crohn's disease patients.
  10. In a Chinese Han population a higher copy number of DEFA1/DEFA3 is significantly associated with the risk of severe sepsis.
    Title: Increased genomic copy number of DEFA1/DEFA3 is associated with susceptibility to severe sepsis in Chinese Han population.
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Nucleotide Protein
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