DEFB106A

Protein-coding gene in humans
DEFB106A
Available structures
PDBHuman UniProt search: PDBe RCSB
List of PDB id codes

2LWL

Identifiers
AliasesDEFB106A, BD-6, DEFB-6, DEFB106, defensin beta 106A
External IDsHomoloGene: 134659; GeneCards: DEFB106A; OMA:DEFB106A - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for DEFB106A
Genomic location for DEFB106A
Band8p23.1Start7,825,139 bp[1]
End7,829,053 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • liver

  • cell

  • somatic cell

  • white blood cell

  • monocyte

  • blood

  • human musculoskeletal system

  • right lobe of liver

  • skeletal muscle

  • muscle of leg
    n/a
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • lipopolysaccharide binding
  • heparin binding
  • protein binding
  • CCR2 chemokine receptor binding
Cellular component
  • extracellular region
  • nucleus
  • cell surface
  • extrinsic component of membrane
  • microvesicle
  • membrane
Biological process
  • defense response
  • defense response to bacterium
  • innate immune response
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

245909

n/a

Ensembl

ENSG00000186579
ENSG00000285617

n/a

UniProt

Q8N104

n/a

RefSeq (mRNA)

NM_152251

n/a

RefSeq (protein)

NP_689464

n/a

Location (UCSC)Chr 8: 7.83 – 7.83 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Beta-defensin 106 is a protein that in humans is encoded by the DEFB106A gene.[3][4]

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 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106A, represents the more centromeric copy.[4]

Function

The purified DEFB106 showed antimicrobial activity against Escherichia coli, Candida albicans and Staphylococcus aureus.[5]

References

  1. ^ a b c ENSG00000285617 GRCh38: Ensembl release 89: ENSG00000186579, ENSG00000285617 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ 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.
  4. ^ a b "Entrez Gene: DEFB106A defensin, beta 106A".
  5. ^ Xin A (Jan 2014). "Soluble fusion expression, characterization and localization of human β-defensin 6..." Mol Med Rep. 9 (1): 149–55. doi:10.3892/mmr.2013.1768. PMID 24189797.

Further reading

  • 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.
  • 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.
  • Kao CY, Chen Y, Zhao YH, Wu R (2003). "ORFeome-based search of airway epithelial cell-specific novel human [beta]-defensin genes". Am. J. Respir. Cell Mol. Biol. 29 (1): 71–80. CiteSeerX 10.1.1.108.7808. doi:10.1165/rcmb.2002-0205OC. PMID 12600824.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.


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