Property Summary

NCBI Gene PubMed Count 177
PubMed Score 413.97
PubTator Score 339.43

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
ulcerative colitis 2087 2.52605235029057E-8
osteosarcoma 7933 8.544589314376E-4
interstitial cystitis 2299 0.00169246784602842
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00176754890785976
ovarian cancer 8492 0.00210893102958685
active Crohn's disease 918 0.00407767252571778
pituitary cancer 1972 0.00484526097523961
lung cancer 4473 0.00774007228983707
breast carcinoma 1614 0.00904730848312548
non-inflammatory breast cancer 208 0.0199919718377119
pancreatic cancer 2300 0.0217790979332474
primary pancreatic ductal adenocarcinoma 1271 0.0247416267335658
urothelial carcinoma 318 0.0254673822663
chronic rhinosinusitis 512 0.0310885124466407
intraductal papillary-mucinous adenoma (IPMA) 2956 0.0314061206275833
esophageal adenocarcinoma 737 0.0382240890605096

Expression

  Differential Expression (17)

Synonym

Accession P60022 Q09753 BD-1
Symbols BD1
HBD1
DEFB-1
DEFB101

Gene

PDB

1E4S   1IJU   1IJV   1KJ5   2NLB   2NLC   2NLD   2NLE   2NLF   2NLG   2NLH   2NLP   2NLQ   2NLS   2PLZ  

  Ortholog (5)

Species Source
Chimp OMA EggNOG Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG
Pig OMA EggNOG

Gene RIF (164)

PMID Text
27029120 Association of infectious pathology of upper respiratory tract and development of periodontitis diseases with markers in DEFB1 (-44G/C) and TLR2 Arg753Gln and Arg677Trp genes was determined.
26968045 DEFB1 polymorphisms alone may not influence pathology susceptibility, however they could possibly concur, together with other factors involved in the genetic control of innate immune system, in the predisposition towards recurrent tonsillitis
26568662 beta-defensin-1 production is dysregulated in the epithelium of patients with chronic obstructive pulmonary disease
26434201 The DEFB1 c.-44C>G polymorphism of the GG protective genotype was much less frequent among multiple sclerosis patients than among the controls.
26377569 dental plaque amount, lactobacilli count, age, and saliva buffer capacity, as well as DEFB1 gene polymorphism, explained a total of 87.8% of variations in DMFT scores.
26232989 Our meta-analysis provides evidence that DEFB1 genetic polymorphisms rs11362G>A, rs1800972C>G and rs1799946G>A are important contributing factors to the development of digestive diseases
26038828 there is a significant link between innate immunity deregulation through disruption of cationic peptides (hBDs) and the potential development of colon cancer.
26028230 Genotypes and alleles of the DEFB1 gene found in long-living individuals can be considered as the factors that increase the probability of longevity and favorable course of age-related diseases.
25939140 Possible association between DEFB1 polymorphisms and in vivo salivary levels of hBD-1 in an Italian population of 40 healthy individuals, finding a genotype-related different expression with two of these polymorphisms: -52G > A and -44C > G.
25815330 A-dependent DEFB1 upregulation below 20 mM predicts in vitro antimicrobial activity as well as glucose- and AA-dependent CAMP and IFNG upregulation.
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AA Sequence

MRTSYLLLFTLCLLLSEMASGGNFLTGLGHRSDHYNCVSSGGQCLYSACPIFTKIQGTCYRGKAKCCK        1 - 68
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Text Mined References (178)

PMID Year Title
27029120 [ASSOCIATION OF POLYMORPHIC MARKERS IN GENES OF INNATE IMMUNITY IN PATIENTS WITH PERIODONTITIS AND INFLAMMATORY DISEASES OF UPPER RESPIRATORY TRACT].
26968045 2016 DEFB1 polymorphisms and susceptibility to recurrent tonsillitis in Italian children.
26568662 2015 Airway ?-Defensin-1 Protein Is Elevated in COPD and Severe Asthma.
26434201 2015 GENETIC POLYMORPHISMS OF HUMAN ?-DEFENSINS IN PATIENTS WITH MULTIPLE SCLEROSIS.
26377569 2016 Gene-environment Interactions in the Etiology of Dental Caries.
26232989 2015 Association between Genetic Polymorphisms in DEFB1 and Susceptibility to Digestive Diseases.
26038828 2015 Expression and new exon mutations of the human Beta defensins and their association on colon cancer development.
26028230 2015 Association of Polymorphisms in Innate Immunity Genes TLR9 and DEFB1 with Human Longevity.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25939140 2015 Impact of DEFB1 gene regulatory polymorphisms on hBD-1 salivary concentration.
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