Details of Drug Off-Target (DOT)

General Information of Drug Off-Target (DOT) (ID: OTLQZR6K)

DOT Name Beta-defensin 104 (DEFB104A)
Synonyms Beta-defensin 4; BD-4; DEFB-4; hBD-4; Defensin, beta 104
Gene Name DEFB104A
Related Disease
Bacteremia ( )
Dermatophytosis ( )
Tinea infection ( )
Alzheimer disease ( )
Alzheimer disease 3 ( )
Anca-associated vasculitis ( )
Autoimmune disease ( )
Behcet disease ( )
Cervical cancer ( )
Cervical carcinoma ( )
Colon cancer ( )
Colon carcinoma ( )
Crohn disease ( )
Cystic fibrosis ( )
Esophageal squamous cell carcinoma ( )
Human papillomavirus infection ( )
Neoplasm ( )
Primary sclerosing cholangitis ( )
Prostate cancer ( )
Prostate carcinoma ( )
Prostate neoplasm ( )
Psoriasis ( )
Ulcerative colitis ( )
Vasculitis ( )
Periodontitis ( )
Stroke ( )
Tuberculosis ( )
Ankylosing spondylitis ( )
UniProt ID
D104A_HUMAN
3D Structure
Download
2D Sequence (FASTA)
Download
3D Structure (PDB)
Download
PDB ID
5KI9
Pfam ID
PF13841
Sequence
MQRLVLLLAISLLLYQDLPVRSEFELDRICGYGTARCRKKCRSQEYRIGRCPNTYACCLR
KWDESLLNRTKP
Function Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103.
Tissue Specificity
High expression in the testis. Gastric antrum exhibited relatively high levels. A lower expression is observed in uterus and neutrophils thyroid gland, lung, and kidney. No detectable expression in other tissues tested.
Reactome Pathway
Defensins (R-HSA-1461973 )
Beta defensins (R-HSA-1461957 )

Molecular Interaction Atlas (MIA) of This DOT

28 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Bacteremia DIS6N9RZ Definitive Biomarker [1]
Dermatophytosis DISM7JPJ Definitive Altered Expression [2]
Tinea infection DISXMEII Definitive Altered Expression [2]
Alzheimer disease DISF8S70 Strong Genetic Variation [3]
Alzheimer disease 3 DISVT69G Strong Genetic Variation [3]
Anca-associated vasculitis DISU3CNU Strong Biomarker [4]
Autoimmune disease DISORMTM Strong Genetic Variation [5]
Behcet disease DISSYMBS Strong Genetic Variation [6]
Cervical cancer DISFSHPF Strong Genetic Variation [7]
Cervical carcinoma DIST4S00 Strong Genetic Variation [7]
Colon cancer DISVC52G Strong Altered Expression [8]
Colon carcinoma DISJYKUO Strong Altered Expression [8]
Crohn disease DIS2C5Q8 Strong Biomarker [9]
Cystic fibrosis DIS2OK1Q Strong Biomarker [10]
Esophageal squamous cell carcinoma DIS5N2GV Strong Biomarker [11]
Human papillomavirus infection DISX61LX Strong Genetic Variation [7]
Neoplasm DISZKGEW Strong Biomarker [11]
Primary sclerosing cholangitis DISTH5WJ Strong Genetic Variation [12]
Prostate cancer DISF190Y Strong Genetic Variation [13]
Prostate carcinoma DISMJPLE Strong Genetic Variation [13]
Prostate neoplasm DISHDKGQ Strong Genetic Variation [13]
Psoriasis DIS59VMN Strong Altered Expression [14]
Ulcerative colitis DIS8K27O Strong Altered Expression [15]
Vasculitis DISQRKDX Strong Biomarker [5]
Periodontitis DISI9JOI moderate Altered Expression [16]
Stroke DISX6UHX moderate Genetic Variation [17]
Tuberculosis DIS2YIMD Disputed Altered Expression [18]
Ankylosing spondylitis DISRC6IR Limited Biomarker [19]
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⏷ Show the Full List of 28 Disease(s)
Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DOT
1 Drug(s) Affected the Post-Translational Modifications of This DOT
Drug Name Drug ID Highest Status Interaction REF
Benzo(a)pyrene DMN7J43 Phase 1 Benzo(a)pyrene increases the methylation of Beta-defensin 104 (DEFB104A). [20]
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References

1 Genetic variability in beta-defensins is not associated with susceptibility to Staphylococcus aureus bacteremia.PLoS One. 2012;7(2):e32315. doi: 10.1371/journal.pone.0032315. Epub 2012 Feb 22.
2 Low DEFB4 copy number and high systemic hBD-2 and IL-22 levels are associated with dermatophytosis.J Invest Dermatol. 2015 Mar;135(3):750-758. doi: 10.1038/jid.2014.369. Epub 2014 Sep 1.
3 Relevance of defensin -2 and defensins (HNP1-3) in Alzheimer's disease.Psychiatry Res. 2016 May 30;239:342-5. doi: 10.1016/j.psychres.2016.03.045. Epub 2016 Mar 31.
4 Molecular signatures of a disturbed nasal barrier function in the primary tissue of Wegener's granulomatosis.Mucosal Immunol. 2011 Sep;4(5):564-73. doi: 10.1038/mi.2011.9. Epub 2011 Mar 16.
5 Higher DEFB4 genomic copy number in SLE and ANCA-associated small vasculitis.Rheumatology (Oxford). 2012 Jun;51(6):992-5. doi: 10.1093/rheumatology/ker419. Epub 2012 Feb 1.
6 Copy number variation of -defensin genes in Behet's disease.Clin Exp Rheumatol. 2011 Jul-Aug;29(4 Suppl 67):S20-3. Epub 2011 Sep 27.
7 Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer.J Hum Genet. 2013 May;58(5):250-3. doi: 10.1038/jhg.2013.7. Epub 2013 Mar 7.
8 Expression and new exon mutations of the human Beta defensins and their association on colon cancer development.PLoS One. 2015 Jun 3;10(6):e0126868. doi: 10.1371/journal.pone.0126868. eCollection 2015.
9 Association of higher DEFB4 genomic copy number with Crohn's disease.Am J Gastroenterol. 2010 Feb;105(2):354-9. doi: 10.1038/ajg.2009.582. Epub 2009 Oct 6.
10 Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations.Genomics. 2005 May;85(5):574-81. doi: 10.1016/j.ygeno.2005.02.003.
11 Overexpression of human -defensin 2 promotes growth and invasion during esophageal carcinogenesis.Oncotarget. 2014 Nov 30;5(22):11333-44. doi: 10.18632/oncotarget.2416.
12 Human -Defensin 2 in Primary Sclerosing Cholangitis.Clin Transl Gastroenterol. 2017 Mar 16;8(3):e80. doi: 10.1038/ctg.2017.8.
13 Genetic variants of the copy number polymorphic beta-defensin locus are associated with sporadic prostate cancer.Tumour Biol. 2008;29(2):83-92. doi: 10.1159/000135688. Epub 2008 Jun 2.
14 Towards the development of a RNAi-based topical treatment for psoriasis: Proof-of-concept in a 3D psoriasis skin model.Exp Dermatol. 2018 May;27(5):463-469. doi: 10.1111/exd.13414. Epub 2017 Nov 2.
15 beta-Defensin-3 and -4 in intestinal epithelial cells display increased mRNA expression in ulcerative colitis.Clin Exp Immunol. 2004 Aug;137(2):379-85. doi: 10.1111/j.1365-2249.2004.02543.x.
16 Beta-defensin-2 genomic copy number variation and chronic periodontitis.J Dent Res. 2013 Nov;92(11):1035-40. doi: 10.1177/0022034513504217. Epub 2013 Sep 9.
17 Genetic polymorphisms of human -defensins in patients with ischemic stroke.Acta Neurol Scand. 2012 Aug;126(2):109-15. doi: 10.1111/j.1600-0404.2011.01613.x. Epub 2011 Nov 2.
18 IL-32 is a molecular marker of a host defense network in human tuberculosis.Sci Transl Med. 2014 Aug 20;6(250):250ra114. doi: 10.1126/scitranslmed.3009546.
19 Association of -defensin gene copy number variations with ankylosing spondylitis in Chinese population: A case-control study.Mod Rheumatol. 2016;26(1):146-50. doi: 10.3109/14397595.2015.1056930. Epub 2015 Aug 19.
20 Air pollution and DNA methylation alterations in lung cancer: A systematic and comparative study. Oncotarget. 2017 Jan 3;8(1):1369-1391. doi: 10.18632/oncotarget.13622.