Version 5.4
| Homo sapiens Gene: DEFA6 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-6012.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | DEFA6 | ||||||||||||||||||
| Gene Name | defensin, alpha 6, Paneth cell-specific | ||||||||||||||||||
| Synonyms | DEF6; HD-6 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000164822 | ||||||||||||||||||
| Encoded Proteins |
defensin, alpha 6, Paneth cell-specific
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| InnateDB Annotation | |||||||||||||||||||
| Summary |
DEFA6 (HD-6) and DEFA5 (HD-5) are two Paneth cell alpha-defensins found in the gut and alpha-defensins have multiple functions in the immune system.
DEFA6 is secreted by paneth cells in the small intestine and is secreted in response to cholinergic and microbial stimuli. DEFA5A confer immunity to oral infection by Salmonella and is a major determinant of the small intestinal microbiome composition.
DEFA6 is involved in mucosal innate immunity by protecting the small intestine against invasion by diverse enteric pathogens. In response to bacterial surface proteins, DEFA6 undergoes ordered self-assembly to form fibrils and nanonets that surround and entangle bacteria.
NOD2 plays a role in intestinal innate immunity by regulating the expression of DEFA5 and DEFA6 through the NF-kB and MAPK pathways.
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| Entrez Gene | |||||||||||||||||||
| Summary |
Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Jul 2008] Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 8:6924693-6926076 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | p23.1 | ||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 2 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 |
Alpha-defensins pathway
Defensins pathway
Innate Immune System pathway
Immune System pathway
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| KEGG | |||||||||||||||||||
| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q01524 | ||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 1671 | ||||||||||||||||||
| UniGene | Hs.711 | ||||||||||||||||||
| RefSeq | NM_001926 | ||||||||||||||||||
| HUGO | HGNC:2765 | ||||||||||||||||||
| OMIM | 600471 | ||||||||||||||||||
| CCDS | CCDS5960 | ||||||||||||||||||
| HPRD | 02719 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AF200455 BC069667 BC069710 BC069728 BC069769 BC093951 BC093953 CH471153 M98331 U33317 | ||||||||||||||||||
| GenPept | AAB59357 AAC50382 AAH69667 AAH69710 AAH69728 AAH69769 AAH93951 AAH93953 AAT68876 EAW80484 | ||||||||||||||||||
| RNA Seq Atlas | 1671 | ||||||||||||||||||