DEFA6

"HD6" redirects here. For the star, see HD 6.

Defensin, alpha 6 (DEFA6) also known as human alpha defensin 6 (HD6) is a human protein that is encoded by the DEFA6 gene.^[5][6] DEFA6 is expressed in the Paneth cells of the ileum.^[7]

DEFA6
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1ZMQ, 3QTE
Identifiers
Aliases	DEFA6, DEF6, HD-6, defensin alpha 6
External IDs	OMIM: 600471; MGI: 3711900; HomoloGene: 130499; GeneCards: DEFA6; OMA:DEFA6 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8p23.1 Start 6,924,697 bp[1] End 6,926,076 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 A2|8 Start 21,555,054 bp[2] End 21,556,012 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in duodenum rectum mucosa of transverse colon appendix lymph node body of pancreas skin of abdomen bone marrow right lung gastric mucosa Top expressed in ileum jejunum duodenum embryo colon pancreas thymus esophagus liver stomach More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding protein homodimerization activity Cellular component Golgi lumen extracellular region extracellular space Biological process defense response defense response to bacterium defense response to fungus antimicrobial humoral response antimicrobial humoral immune response mediated by antimicrobial peptide killing of cells of other organism innate immune response in mucosa antibacterial humoral response defense response to Gram-negative bacterium defense response to Gram-positive bacterium membrane disruption in other organism cellular response to lipopolysaccharide Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1671 100041688 Ensembl ENSG00000164822 ENSG00000285136 ENSMUSG00000061845 UniProt Q01524 E9QLQ1 RefSeq (mRNA) NM_001926 NM_001177481 RefSeq (protein) NP_001917 NP_001170952 Location (UCSC) Chr 8: 6.92 – 6.93 Mb Chr 8: 21.56 – 21.56 Mb PubMed search [3] [4]
Wikidata
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Function

The alpha defensins are a family of microbicidal and cytotoxic peptides that defend the host against bacteria and viruses. HD6 has poor antibacterial potency.^[8] However, HD6 affords protection against invasion by enteric bacterial pathogens by self-assembly to form fibrils and nanonets that surround and entangle bacteria.^[9]

Several alpha defensin genes, including DEFA6, are clustered on chromosome 8.^[5]