• Gene id: 1670

Gene Summary

• Gene Symbol: DEFA5   Gene   UCSC   Ensembl
• Aliases: DEF5, HD-5
• Gene name: defensin alpha 5
• Alternate names: defensin-5, HD5(20-94), defensin, alpha 5, Paneth cell-specific, defensin, alpha 5, preproprotein,
• Gene location: 8p23.1 (7056738: 7055303)     Exons: 2     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: 600472

Protein Summary

• Protein general information: Q01523  
  • Name: Defensin 5 (Defensin, alpha 5) (HD5(20 94)) [Cleaved into: HD5(23 94); HD5(29 94); HD5(56 94); HD5(63 94)]
  • Length: 94  
  • Mass: 10071
  • Tissue specificity: Paneth cells of the small intestine (at protein level). {ECO
• Sequence:

  MRTIAILAAILLVALQAQAESLQERADEATTQKQSGEDNQDLAISFAGNGLSALRTSGSQARATCYCRTGRCATR
  ESLSGVCEISGRLYRLCCR

• Structural information:
  • Interpro: IPR006081  IPR016327  IPR006080  IPR002366  
  • Prosite: PS00269
  • PDB: 1ZMP 2LXZ 2MIT 3I5W 4E82 4E83 4E86 4RBW 4RBX 5CUI 5CUJ 5CUM
  • PDBsum: 1ZMP 2LXZ 2MIT 3I5W 4E82 4E83 4E86 4RBW 4RBX 5CUI 5CUJ 5CUM
  • STRING: ENSP00000329890
• Other Databases: GeneCards:  DEFA5  Malacards:  DEFA5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051873	killing by host of symbiont cells	IDA	biological process
GO:0050829	defense response to Gram-negative bacterium	IBA	biological process
GO:0051673	membrane disruption in other organism	IBA	biological process
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:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0006952	defense response	IEA	biological process
GO:0006952	defense response	IEA	biological process
GO:0031640	killing of cells of other organism	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0050832	defense response to fungus	IEA	biological process
GO:0042742	defense response to bacterium	IEA	biological process
GO:0019730	antimicrobial humoral response	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:0005576	extracellular region	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0030133	transport vesicle	IEA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	IC	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0045087	innate immune response	IMP	biological process
GO:0050830	defense response to Gram-positive bacterium	IMP	biological process
GO:0050829	defense response to Gram-negative bacterium	IMP	biological process
GO:1905710	positive regulation of membrane permeability	IMP	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)