Property Summary

NCBI Gene PubMed Count 19
PubMed Score 8.13
PubTator Score 39.81

Knowledge Summary


No data available


  Disease Sources (2)

Disease Target Count P-value
osteosarcoma 7933 1.51572370031585E-12
Waldenstrons macroglobulinemia 765 0.00158766255148685
mucosa-associated lymphoid tissue lymphoma 480 0.0126560750497382
tuberculosis 1563 0.0435257586533138
Disease Target Count Z-score Confidence
Intestinal perforation 6 3.269 1.6
Clostridium difficile colitis 12 3.063 1.5


  Differential Expression (4)

Disease log2 FC p
Waldenstrons macroglobulinemia 3.315 0.002
osteosarcoma -8.634 0.000
tuberculosis 1.300 0.044
mucosa-associated lymphoid tissue lympho... 4.773 0.013


Accession P12838 Q6EZF8
Symbols HP4




  Ortholog (2)

Species Source
Chimp OMA Inparanoid

Gene RIF (16)

23050799 Results indicate that the gene expression of DEFA 1/3 and 4 was significantly increased in all tumours - except for a significant decrease of DEFA 4 gene expression in pleomorphic adenomas.
21734341 DEFA1-3 and DEFA4 mRNA level in peripheral blood cells can be used to identify chronic myeloid leukaemia patients who are at risk of being imatinib-resistant, before initiation of the therapy.
20727496 The combination of an increased expression of the antimicrobial peptide DEFA-4, the oncogene S100-A7, epidermal growth factor, and tenascin-c, and a decreased Doc-1 expression in oral leukoplakia might characterize its potency of malignant transformation.
20438785 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20406964 Observational study of gene-disease association. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
20056178 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20016407 Observational study of gene-disease association. (HuGE Navigator)
19423540 Observational study of gene-disease association. (HuGE Navigator)
19363140 DEFA4 was upregulated in IPF patients with acute exacerbation

AA Sequence

FCRRTELRVGNCLIGGVSFTYCCTRVD                                                71 - 97

Text Mined References (23)

PMID Year Title
23050799 2012 Human ?-defensin (DEFA) gene expression helps to characterise benign and malignant salivary gland tumours.
21734341 2011 ?-defensin 1-3 and ?-defensin 4 as predictive markers of imatinib resistance and relapse in CML patients.
20727496 2010 Gene expression of oncogenes, antimicrobial peptides, and cytokines in the development of oral leukoplakia.
20438785 2010 Polymorphisms in innate immunity genes and risk of childhood leukemia.
20406964 2010 Risk of meningioma and common variation in genes related to innate immunity.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20056178 2010 Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment.
20016407 2010 Polymorphisms in PARP, IL1B, IL4, IL10, C1INH, DEFB1, and DEFA4 in meningococcal disease in three populations.
19423540 2009 Common variation in genes related to innate immunity and risk of adult glioma.
19363140 2009 Gene expression profiles of acute exacerbations of idiopathic pulmonary fibrosis.