DEFA4 (defensin alpha 4)

Gene

• Entrez ID: 1669
• Gene name: Defensin alpha 4
• Gene symbol: DEFA4
• Synonyms (NCBI Gene): DEF4, HNP-4, HP-4, HP4
• Chromosome: 8
• Chromosome location: 8p23.1
• Summary: 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,

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017503	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005796	Component	Golgi lumen	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0006952	Process	Defense response	IEA
GO:0010818	Process	T cell chemotaxis	IDA	17088326
GO:0019730	Process	Antimicrobial humoral response	IDA	2500436
GO:0019731	Process	Antibacterial humoral response	IBA
GO:0019731	Process	Antibacterial humoral response	IDA	2500436
GO:0019732	Process	Antifungal humoral response	IDA	2500436
GO:0030133	Component	Transport vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031640	Process	Killing of cells of another organism	IDA	15616305, 17088326
GO:0031640	Process	Killing of cells of another organism	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0042582	Component	Azurophil granule	IDA	2500436
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	17088326
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IDA	2500436
GO:0050829	Process	Defense response to Gram-negative bacterium	IBA
GO:0050829	Process	Defense response to Gram-negative bacterium	IDA	2500436
GO:0050830	Process	Defense response to Gram-positive bacterium	IBA
GO:0050830	Process	Defense response to Gram-positive bacterium	IDA	2500436
GO:0050832	Process	Defense response to fungus	IDA	2500436
GO:0050832	Process	Defense response to fungus	IEA
GO:0051673	Process	Disruption of plasma membrane integrity in another organism	IBA
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IBA
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IC	15616305, 17088326
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	2500436
GO:0140911	Function	Pore-forming activity	IBA

Other IDs

• MIM: 601157
• HGNC: 2763
• e!Ensembl: ENSG00000164821

Protein

• UniProt ID: P12838
• Protein name: Defensin alpha 4 (Corticostatin HP-4) (HNP-4) (HP-4) (Neutrophil defensin 4)
• Protein function: Host-defense peptide that has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positive bacteria and fungi (PubMed:15317502, PubMed:15616305, PubMed:2500436, PubMed:2501794, PubMed:30658057). Exhibi
• PDB: 1ZMM, 6DMM, 6DMQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00879	Defensin_propep	1 → 51	Defensin propeptide	Family
  PF00323	Defensin_1	65 → 93	Mammalian defensin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in neutrophils (at protein level) (PubMed:2500436, PubMed:2501794, PubMed:2843187). Expressed in bone marrow (PubMed:8469233). {ECO:0000269|PubMed:2500436, ECO:0000269|PubMed:2501794, ECO:0000269|PubMed:2843187, ECO:0000269|P
• Sequence:

  MRIIALLAAILLVALQVRAGPLQARGDEAPGQEQRGPEDQDISISFAWDKSSALQVSGST
  RGMVCSCRLVFCRRTELRVGNCLIGGVSFTYCCTRVD

• Sequence length: 97

Pathways

KEGG:

NOD-like receptor signaling pathway
Staphylococcus aureus infection
Transcriptional misregulation in cancer

Reactome:

Defensins
Alpha-defensins
Neutrophil degranulation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Juvenile	Juvenile arthritis	Pubtator	34480465	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	33878997	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	26890122	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	40003985	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	35058920	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	28085486	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	32938960	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	36532018	Associate	★☆☆☆☆ Found in Text Mining only
Microscopic Polyangiitis	Microscopic polyangiitis	Pubtator	23690996, 28569178	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32925767	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	29446150		★☆☆☆☆ Found in Text Mining only