• Gene id: 1669

Gene Summary

• Gene Symbol: DEFA4   Gene   UCSC   Ensembl
• Aliases: DEF4, HNP-4, HP-4, HP4
• Gene name: defensin alpha 4
• Alternate names: neutrophil defensin 4, corticostatin, defensin, alpha 4, corticostatin, defensin, alpha 4, preproprotein,
• Gene location: 8p23.1 (6938305: 6935819)     Exons: 3     NC_000008.11
• Gene summary(Entrez): Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract,
• OMIM: 604355

Protein Summary

• Protein general information: P12838  
  • Name: Neutrophil defensin 4 (Defensin, alpha 4) (HNP 4) (HP 4)
  • Length: 97  
  • Mass: 10504
• Sequence:

  MRIIALLAAILLVALQVRAGPLQARGDEAPGQEQRGPEDQDISISFAWDKSSALQVSGSTRGMVCSCRLVFCRRT
  ELRVGNCLIGGVSFTYCCTRVD

• Structural information:
  • Interpro: IPR006081  IPR016327  IPR006080  IPR002366  
  • Prosite: PS00269
  • PDB: 1ZMM 6DMM 6DMQ
  • PDBsum: 1ZMM 6DMM 6DMQ
  • STRING: ENSP00000297435
• Other Databases: GeneCards:  DEFA4  Malacards:  DEFA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002227	innate immune response in mucosa	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0019731	antibacterial humoral response	IBA	biological process
GO:0050830	defense response to Gram-positive bacterium	IBA	biological process
GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	IBA	biological process
GO:0071222	cellular response to lipopolysaccharide	IBA	biological process
GO:0050829	defense response to Gram-negative bacterium	IBA	biological process
GO:0051673	membrane disruption in other organism	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0006952	defense response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0050832	defense response to fungus	IEA	biological process
GO:0031640	killing of cells of other organism	IEA	biological process
GO:0006952	defense response	IEA	biological process
GO:0042742	defense response to bacterium	IEA	biological process
GO:0019730	antimicrobial humoral response	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0035580	specific granule lumen	TAS	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	biological process
GO:0050832	defense response to fungus	IDA	biological process
GO:0045087	innate immune response	IDA	biological process
GO:0050830	defense response to Gram-positive bacterium	IDA	biological process
GO:0019732	antifungal humoral response	IDA	biological process
GO:0050829	defense response to Gram-negative bacterium	IDA	biological process
GO:0019731	antibacterial humoral response	IDA	biological process
GO:0019730	antimicrobial humoral response	IDA	biological process
GO:0042582	azurophil granule	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway
hsa05150	Staphylococcus aureus infection

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray