Version 5.4
| Homo sapiens Gene: DEFB4A | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-6711.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | DEFB4A | ||||||||||||||||||
| Gene Name | defensin, beta 4A | ||||||||||||||||||
| Synonyms | BD-2; DEFB-2; DEFB102; DEFB2; DEFB4; HBD-2; SAP1 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000171711 | ||||||||||||||||||
| Encoded Proteins |
defensin, beta 4A
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| InnateDB Annotation | |||||||||||||||||||
| Summary |
DEFB4 is a beta-defensin with direct antimicrobial properties that contribute to local innate immune responses and it aids in combating microbial invasion by being chemotactic for a broad spectrum of leukocytes in a CCR6- and CCR2-dependent manner.
DEFB4A is upregulated in hypoxic microenvironments, which is characteristic of infected tissue.
DEFB4A induction in keratinocytes is inhibited by Pseudomonas aeruginosa rhamnolipids.
In alveolar epithelium, IL22 upregulates DEFB4A gene expression via STAT3.
Exposure to ambient air pollution particulate matter deregulates the ability of the human type II alveolar epithelial cells (A549) to express the antimicrobial peptides HBD-2 (DEFB4A/DEFB4B) and HBD-3 (DEFB103A/DEFB103B) upon infection with Mycobacterium tuberculosis and increases intracellular M. tuberculosis growth.
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| Entrez Gene | |||||||||||||||||||
| Summary |
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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 8:7894629-7896711 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | p23.1 | ||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
| No orthologs found for this gene | |||||||||||||||||||
| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Beta defensins pathway
Defensins pathway
Innate Immune System pathway
Immune System pathway
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| KEGG | |||||||||||||||||||
| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | O15263 | ||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 1673 | ||||||||||||||||||
| UniGene | |||||||||||||||||||
| RefSeq | NM_004942 | ||||||||||||||||||
| HUGO | HGNC:2767 | ||||||||||||||||||
| OMIM | 602215 | ||||||||||||||||||
| CCDS | CCDS5971 | ||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AF040153 AF071216 AJ000152 BC069285 BC093983 BC093985 Z71389 | ||||||||||||||||||
| GenPept | AAC33549 AAC69554 AAH69285 AAH93983 AAH93985 CAA95992 CAB65126 | ||||||||||||||||||
| RNA Seq Atlas | 100289462 1673 | ||||||||||||||||||