DEFB105A

DEFB105A
Identifiers
Aliases	DEFB105A , BD-5, DEFB-5, DEFB105, defensin beta 105A
External IDs	MGI: 1924924; HomoloGene: 17531; GeneCards: DEFB105A; OMA:DEFB105A - orthologs
Gene location (Human) Chr. Chromosome 8 (human) [1] Band 8p23.1 Start 7,821,004 bp [1] End 7,823,880 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8|8 A1.3 Start 19,161,947 bp [2] End 19,164,866 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in muscle tissue cell blood somatic cell white blood cell monocyte renal cortex endometrium exocrine gland cervix Top expressed in zone of skin testicle More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 245908 77674 Ensembl ENSG00000186562 ENSMUSG00000043787 UniProt Q8NG35 Q8K4N3 RefSeq (mRNA) NM_152250 NM_152802 RefSeq (protein) NP_689463 NP_690015 Location (UCSC) Chr 8: 7.82 – 7.82 Mb Chr 8: 19.16 – 19.16 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Beta-defensin 105 is a protein that is encoded by the DEFB105A gene in humans. ^{[5] [6] [7]}

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 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105A, represents the more centromeric copy. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000186562 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000043787 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ, Casavant TL, McCray PB Jr (Feb 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. Bibcode:2002PNAS...99.2129S. doi: 10.1073/pnas.042692699 . PMC   122330 . PMID   11854508.
6. Semple CA, Rolfe M, Dorin JR (May 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.
7. "Entrez Gene: DEFB105A defensin, beta 105A".

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. S2CID   22355626.
• 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 (1): 92. doi: 10.1186/1471-2164-5-92 . PMC   544879 . PMID   15588320.
• 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.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• 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. doi: 10.4049/jimmunol.169.5.2516 . PMID   12193721.