|
Gene id |
1673 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
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|
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 (7894676: 7896715) Exons: 2 NC_000008.11
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|
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
|
|
OMIM |
602215 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa04621 | NOD-like receptor signaling pathway | | hsa05150 | Staphylococcus aureus infection | | hsa04657 | IL-17 signaling pathway | |
|
| Associated diseases |
References |
| pulmonary alveolar proteinosis | PMID:17000097 |
| pulmonary sarcoidosis | PMID:17000097 |
| Cystic fibrosis | PMID:9843998 |
| Pulmonary fibrosis | PMID:17000097 |
| Lung disease | PMID:9843998 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
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