DEFB104A

DEFB104A
Identifiers
Aliases	DEFB104A , BD-4, DEFB-4, DEFB104, DEFB4, hBD-4, defensin beta 104A
External IDs	HomoloGene: 88640 GeneCards: DEFB104A
Gene location (Human)
Chr.	Chromosome 8 (human)
End	7,841,242 bp
RNA expression pattern
	Top expressed in
	endometrium; ; cell; ; monocyte; ; vagina; ; blood; ; urinary system; ; kidney; ; exocrine gland; ; head; ; salivary gland;
	n/a
	More reference expression data
	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
	140596
	n/a
	ENSG00000176782 ; ENSG00000285034
	n/a
	Q8WTQ1
	n/a
	NM_080389
	n/a
	NP_001035792
	n/a
	Wikidata
View/Edit Human

Last updated October 17, 2022

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]

Related Research Articles

Beta-defensin 2 (BD-2) also known as skin-antimicrobial peptide 1 (SAP1) is a peptide that in humans is encoded by the DEFB4 gene.

<span class="mw-page-title-main">Beta defensin</span>

Beta defensins are a family of vertebrate defensins. The beta defensins are antimicrobial peptides implicated in the resistance of epithelial surfaces to microbial colonization.

Defensin, alpha 1 also known as human alpha defensin 1, human neutrophil peptide 1 (HNP-1) or neutrophil defensin 1 is a human protein that is encoded by the DEFA1 gene. Human alpha defensin 1 belongs to the alpha defensin family of antimicrobial peptides.

Beta-defensin 1 is a protein that in humans is encoded by the DEFB1 gene.

Trefoil factor 3 is a protein that in humans is encoded by the TFF3 gene.

Beta-defensin 103 is a protein that in humans is encoded by the DEFB103A gene.

Defensin, alpha 5 (DEFA5) also known as human alpha defensin 5 (HD5) is a protein that in humans is encoded by the DEFA5 gene. DEFA5 is expressed in the Paneth cells of the ileum.

Sperm-associated antigen 11B is a protein that in humans is encoded by the SPAG11B gene.

Beta-defensin 106 is a protein that in humans is encoded by the DEFB106A gene.

Beta-defensin 118 is a protein that in humans is encoded by the DEFB118 gene.

Beta-defensin 127 is a protein that in humans is encoded by the DEFB127 gene.

Beta-defensin 105 is a protein that is encoded by the DEFB105A gene in humans.

Beta-defensin 119 is a protein that in humans is encoded by the DEFB119 gene.

Beta-defensin 126 is a protein that in humans is encoded by the DEFB126 gene.

Beta-defensin 129 is a protein that in humans is encoded by the DEFB129 gene.

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

Defensin, alpha 4 (DEFA4), also known as neutrophil defensin 4 or HNP4, is a human defensin peptide that is encoded by the DEFA4 gene. HNP4 is expressed in the granules of the neutrophil where it defends the host against bacteria and viruses.

<span class="mw-page-title-main">DEFA3</span> Protein-coding gene in the species Homo sapiens

Defensin, alpha 3 (DEFA3) also known as human alpha defensin 3, human neutrophil peptide 3 (HNP-3) or neutrophil defensin 3 is a human protein that is encoded by the DEFA3 gene. Human alpha defensin 3 belongs to the alpha defensin family of antimicrobial peptides.

<span class="mw-page-title-main">8p23.1 duplication syndrome</span> Medical condition

8p23.1 duplication syndrome is a rare genetic disorder caused by a duplication of a region from human chromosome 8. This duplication syndrome has an estimated prevalence of 1 in 64,000 births and is the reciprocal of the 8p23.1 deletion syndrome. The 8p23.1 duplication is associated with a variable phenotype including one or more of speech delay, developmental delay, mild dysmorphism, with prominent forehead and arched eyebrows, and congenital heart disease (CHD).

Beta-defensin 3 is a protein that in humans is encoded by the DEFB3 gene.

References

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

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. 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.

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[refGRCh38Ensembl-1] 1 2 3 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.

[entrez-3] 1 2 "Entrez Gene: DEFB104A defensin, beta 104A".

[1]

[2]

[3]

DEFB104A

Contents

Function

Related Research Articles

References

Further reading