DEFB104A

DEFB104A
Identifiers
Aliases	DEFB104A , BD-4, DEFB-4, DEFB104, DEFB4, hBD-4, defensin beta 104A
External IDs	HomoloGene: 88640; GeneCards: DEFB104A; OMA:DEFB104A - orthologs
Gene location (Human) Chr. Chromosome 8 (human) [1] Band 8p23.1 Start 7,836,436 bp [1] End 7,841,242 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endometrium cell monocyte vagina blood urinary system kidney exocrine gland head salivary gland n/a More reference expression data BioGPS n/a
Gene ontology Molecular function chemoattractant activity Cellular component extracellular region cell surface Biological process defense response defense response to bacterium monocyte chemotaxis innate immune response positive chemotaxis cellular response to phorbol 13-acetate 12-myristate Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 140596 n/a Ensembl ENSG00000176782 ENSG00000285034 n/a UniProt Q8WTQ1 n/a RefSeq (mRNA) NM_080389 n/a RefSeq (protein) NP_001035792 n/a Location (UCSC) Chr 8: 7.84 – 7.84 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Beta-defensin 104 is a protein that in humans is encoded by the DEFB104A gene. ^[3]

Function

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. ^[3]

References

1. ENSG00000285034 GRCh38: Ensembl release 89: ENSG00000176782, ENSG00000285034 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Entrez Gene: DEFB104A defensin, beta 104A".

Further reading

• Patil AA, Cai Y, Sang Y, Blecha F, Zhang G (September 2005). "Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract". Physiological Genomics. 23 (1): 5–17. doi:10.1152/physiolgenomics.00104.2005. PMID   16033865. S2CID   22355626.
• Vankeerberghen A, Scudiero O, De Boeck K, Macek M, Pignatti PF, Van Hul N, Nuytten H, Salvatore F, Castaldo G, Zemkova D, Vavrova V, Cassiman JJ, Cuppens H (May 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, Crovella S, Gallagher G (2005). "Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution". Genetic Testing. 8 (3): 325–7. doi:10.1089/gte.2004.8.325. PMID   15727258.
• Taudien S, Galgoczy P, Huse K, Reichwald K, Schilhabel M, Szafranski K, Shimizu A, Asakawa S, Frankish A, Loncarevic IF, Shimizu N, Siddiqui R, Platzer M (December 2004). "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 (1): 92. doi: 10.1186/1471-2164-5-92 . PMC   544879 . PMID   15588320.
• Hollox EJ, Armour JA, Barber JC (September 2003). "Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster". American Journal of Human Genetics. 73 (3): 591–600. doi:10.1086/378157. PMC   1180683 . PMID   12916016.
• Semple CA, Rolfe M, Dorin JR (2003). "Duplication and selection in the evolution of primate beta-defensin genes". Genome Biology. 4 (5): R31. doi: 10.1186/gb-2003-4-5-r31 . PMC   156587 . PMID   12734011.
• Yamaguchi Y, Nagase T, Makita R, Fukuhara S, Tomita T, Tominaga T, Kurihara H, Ouchi Y (September 2002). "Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice". Journal of Immunology. 169 (5): 2516–23. doi: 10.4049/jimmunol.169.5.2516 . PMID   12193721.
• Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ, Casavant TL, McCray PB (February 2002). "Discovery of five conserved beta -defensin gene clusters using a computational search strategy". Proceedings of the National Academy of Sciences of the United States of America. 99 (4): 2129–33. Bibcode:2002PNAS...99.2129S. doi: 10.1073/pnas.042692699 . PMC   122330 . PMID   11854508.
• García JR, Krause A, Schulz S, Rodríguez-Jiménez FJ, Klüver E, Adermann K, Forssmann U, Frimpong-Boateng A, Bals R, Forssmann WG (August 2001). "Human beta-defensin 4: a novel inducible peptide with a specific salt-sensitive spectrum of antimicrobial activity". FASEB Journal. 15 (10): 1819–21. doi: 10.1096/fj.00-0865fje . PMID   11481241. S2CID   18399306.