Gene id
1673
Gene Summary Protein Summary KEGG pathways Diseases PubMed references
Gene Summary
Gene Symbol
DEFB4A Gene UCSC Ensembl
Aliases
BD-2, DEFB-2, DEFB102, DEFB2, DEFB4, HBD-2, SAP1
Gene name
defensin beta 4A
Alternate names
beta-defensin 4A, beta defensin-2, defensin, beta 2, defensin, beta 4, skin-antimicrobial peptide 1,
Gene location
8p23.1 (7894564: 7896715) Exons: 2 NC_000008.11
Gene summary(Entrez)
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Jul 2008]
OMIM
602215
Protein Summary
Gene ontology
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GO accession Term name Evidence code Go category
KEGG pathways
hsa04657 IL-17 signaling pathway
Diseases
Associated diseases References
Endometriosis PMID: 23269356 Endometriosis INFBASE23269356
PubMed references
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PMID
Condition
Mutation
Ethnicity
Population details
Infertility_type
Associated_genes
Abstract
23269356 Endometrio
50 women includ
hBD-2
Show abstract