- DEFB104A
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Defensin, beta 104A Identifiers Symbols DEFB104A; BD-4; DEFB-4; DEFB104; DEFB104B; DEFB4; MGC118942; MGC118944; MGC118945; hBD-4 External IDs HomoloGene: 88640 GeneCards: DEFB104A Gene Gene Ontology Biological process • defense response to bacterium Sources: Amigo / QuickGO Orthologs Species Human Mouse Entrez 140596 n/a Ensembl n/a n/a UniProt Q8WTQ1 n/a RefSeq (mRNA) NM_080389 n/a RefSeq (protein) NP_525128 n/a Location (UCSC) n/a n/a PubMed search [1] n/a Beta-defensin 104 is a protein that in humans is encoded by the DEFB104A gene.[1]
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy.[1]
References
Further reading
- Patil AA, Cai Y, Sang Y, et al. (2006). "Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract.". Physiol. Genomics 23 (1): 5–17. doi:10.1152/physiolgenomics.00104.2005. PMID 16033865.
- Vankeerberghen A, Scudiero O, De Boeck K, et al. (2005). "Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations.". Genomics 85 (5): 574–81. doi:10.1016/j.ygeno.2005.02.003. PMID 15820309.
- Boniotto M, Ventura M, Eskdale J, et al. (2005). "Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution.". Genet. Test. 8 (3): 325–7. doi:10.1089/gte.2004.8.325. PMID 15727258.
- Taudien S, Galgoczy P, Huse K, et al. (2006). "Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence.". BMC Genomics 5: 92. doi:10.1186/1471-2164-5-92. PMC 544879. PMID 15588320. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=544879.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Hollox EJ, Armour JA, Barber JC (2003). "Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster.". Am. J. Hum. Genet. 73 (3): 591–600. doi:10.1086/378157. PMC 1180683. PMID 12916016. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1180683.
- Semple CA, Rolfe M, Dorin JR (2003). "Duplication and selection in the evolution of primate beta-defensin genes.". Genome Biol. 4 (5): R31. doi:10.1186/gb-2003-4-5-r31. PMC 156587. PMID 12734011. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=156587.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Yamaguchi Y, Nagase T, Makita R, et al. (2002). "Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice.". J. Immunol. 169 (5): 2516–23. PMID 12193721.
- Schutte BC, Mitros JP, Bartlett JA, et al. (2002). "Discovery of five conserved beta -defensin gene clusters using a computational search strategy.". Proc. Natl. Acad. Sci. U.S.A. 99 (4): 2129–33. doi:10.1073/pnas.042692699. PMC 122330. PMID 11854508. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=122330.
- García JR, Krause A, Schulz S, et al. (2001). "Human beta-defensin 4: a novel inducible peptide with a specific salt-sensitive spectrum of antimicrobial activity.". FASEB J. 15 (10): 1819–21. PMID 11481241.
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