DEFA1 (defensin alpha 1)

Gene

• Entrez ID: 1667
• Gene name: Defensin alpha 1
• Gene symbol: DEFA1
• Synonyms (NCBI Gene): DEF1, DEFA2, HNP-1, HP-1, HP1, MRS
• 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
MIRT028873	hsa-miR-26b-5p	Microarray	19088304

Transcription factors

Transcription factor	Regulation	Reference
CEBPA	Unknown	10706719

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002227	Process	Innate immune response in mucosa	IDA	12860195
GO:0005515	Function	Protein binding	IPI	32296183, 34487793
GO:0005576	Component	Extracellular region	HDA	20551380
GO:0005576	Component	Extracellular region	HDA	27559042
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	12860195, 21861873
GO:0005615	Component	Extracellular space	IEA
GO:0005796	Component	Golgi lumen	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0006935	Process	Chemotaxis	TAS	10914484
GO:0006952	Process	Defense response	IEA
GO:0006955	Process	Immune response	TAS	10914484
GO:0010818	Process	T cell chemotaxis	IDA	17088326
GO:0019731	Process	Antibacterial humoral response	IBA
GO:0019731	Process	Antibacterial humoral response	IDA	12860195
GO:0030520	Process	Estrogen receptor signaling pathway	IDA	21861873
GO:0031640	Process	Killing of cells of another organism	IDA	15616305, 17088326
GO:0031640	Process	Killing of cells of another organism	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042832	Process	Defense response to protozoan	IMP	17635867
GO:0045087	Process	Innate immune response	IBA
GO:0050829	Process	Defense response to Gram-negative bacterium	IBA
GO:0050830	Process	Defense response to Gram-positive bacterium	IBA
GO:0050830	Process	Defense response to Gram-positive bacterium	IDA	12860195
GO:0050832	Process	Defense response to fungus	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0051673	Process	Disruption of plasma membrane integrity in another organism	IBA
GO:0051873	Process	Killing by host of symbiont cells	IDA	17635867
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	12860195
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IMP	17635867
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145
GO:0140911	Function	Pore-forming activity	IBA
GO:0140911	Function	Pore-forming activity	IDA	17635867

Other IDs

• MIM: 125220
• HGNC: 2761
• e!Ensembl: ENSG00000206047

Interactions View interactions

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
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	23050799		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18957723		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	30303256		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	27082275		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	28420383	Stimulate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29683978		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	Pubtator	27417541	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	22219625		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	22219625	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31935243	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	32626985	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	22621770		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	22092770	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27840892, 30452920		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17531545		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28420383		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28420383		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	28420383	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	35734636	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	27430968, 28420383		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	19856414, 21701837, 29193023		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	25083086		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	38168840	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25083086		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25083086, 37522815	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	35058920	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21423737, 36476775	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	31242128		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25083086		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	18003664		★☆☆☆☆ Found in Text Mining only
Fetal Diseases	Fetal Diseases	LHGDN	12710851		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	33757866	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	37108732	Stimulate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	22219625	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	3370315	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33728331	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	19191901		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	8267107		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19416474		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23050799		★☆☆☆☆ Found in Text Mining only
Microscopic Polyangiitis	Microscopic polyangiitis	Pubtator	23690996, 28569178	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	23226210	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	32973234	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15507473		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26711780		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	38039040	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21423737	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	29683978		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	30485856		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28449029		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22621770	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11943716		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12913926		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	35681439	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30718392		★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	38039040	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	32626985	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	8267107		★☆☆☆☆ Found in Text Mining only