DEFA1A3 (defensin alpha 1 and alpha 3, variable copy number locus)

2016-04-01  

Identity

HGNC
LOCATION
8p23.1
LOCUSID
ALIAS
DEFA1,DEFA3,DEFT1P

Other Information

Locus ID:

NCBI: 613253
HGNC: 32231

Variants:

dbSNP: 613253
ClinVar: 613253
COSMIC: DEFA1A3

References

Pubmed IDYearTitleCitations
385803922024DEFA1A3 DNA gene-dosage regulates the kidney innate immune response during upper urinary tract infection.0
385803922024DEFA1A3 DNA gene-dosage regulates the kidney innate immune response during upper urinary tract infection.0
362144242023Segregation analysis identifies specific alpha-defensin (DEFA1A3) SNP-CNV haplotypes in predisposition to IgA nephropathy.0
362144242023Segregation analysis identifies specific alpha-defensin (DEFA1A3) SNP-CNV haplotypes in predisposition to IgA nephropathy.0
361619232022Human neutrophil peptides 1-3 protect the murine urinary tract from uropathogenic Escherichia coli challenge.7
361619232022Human neutrophil peptides 1-3 protect the murine urinary tract from uropathogenic Escherichia coli challenge.7
338257202021Increased Gene Copy Number of DEFA1A3 Is Associated With the Severity of Ulcerative Colitis.2
338257202021Increased Gene Copy Number of DEFA1A3 Is Associated With the Severity of Ulcerative Colitis.2
269400962016Polymorphisms in α-Defensin-Encoding DEFA1A3 Associate with Urinary Tract Infection Risk in Children with Vesicoureteral Reflux.25
273584982016Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction.21
269400962016Polymorphisms in α-Defensin-Encoding DEFA1A3 Associate with Urinary Tract Infection Risk in Children with Vesicoureteral Reflux.25
273584982016Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction.21
262691972015Rhesus macaque θ-defensin RTD-1 inhibits proinflammatory cytokine secretion and gene expression by inhibiting the activation of NF-κB and MAPK pathways.25
262691972015Rhesus macaque θ-defensin RTD-1 inhibits proinflammatory cytokine secretion and gene expression by inhibiting the activation of NF-κB and MAPK pathways.25
233337282013Alpha-defensin DEFA1A3 gene copy number variation in Asians and its genetic association study in Chinese systemic lupus erythematosus patients.7

Citation

Dessen P

DEFA1A3 (defensin alpha 1 and alpha 3, variable copy number locus)

Atlas Genet Cytogenet Oncol Haematol. 2016-04-01

Online version: http://atlasgeneticsoncology.org/gene/55710/defa1a3-(defensin-alpha-1-and-alpha-3-variable-copy-number-locus)