DEFA5 (defensin alpha 5)

Gene

• Entrez ID: 1670
• Gene name: Defensin alpha 5
• Gene symbol: DEFA5
• Synonyms (NCBI Gene): DEF5, HD-5
• 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
MIRT025903	hsa-miR-7-5p	Microarray	17612493
MIRT931911	hsa-miR-4307	CLIP-seq
MIRT931912	hsa-miR-4436a	CLIP-seq
MIRT2211297	hsa-miR-4457	CLIP-seq
MIRT2211298	hsa-miR-4672	CLIP-seq
MIRT2211299	hsa-miR-4731-3p	CLIP-seq
MIRT2211300	hsa-miR-4797-5p	CLIP-seq
MIRT2211301	hsa-miR-4801	CLIP-seq
MIRT2211302	hsa-miR-624	CLIP-seq
MIRT931912	hsa-miR-4436a	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TCF4	Unknown	19221600

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32437749
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	9588893
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:0019731	Process	Antibacterial humoral response	IBA
GO:0030133	Component	Transport vesicle	IEA
GO:0030141	Component	Secretory granule	IDA	9588893
GO:0030496	Component	Midbody	IDA
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:0032757	Process	Positive regulation of interleukin-8 production	IDA	19589339
GO:0034774	Component	Secretory granule lumen	TAS
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	17088326, 22573326, 25782105
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	IMP	21861459
GO:0050829	Process	Defense response to Gram-negative bacterium	IBA
GO:0050829	Process	Defense response to Gram-negative bacterium	IDA	12660734, 19589339, 22573326, 25354318, 30808760
GO:0050829	Process	Defense response to Gram-negative bacterium	IMP	21861459
GO:0050830	Process	Defense response to Gram-positive bacterium	IBA
GO:0050830	Process	Defense response to Gram-positive bacterium	IDA	19589339, 22573326, 25354318, 30808760
GO:0050830	Process	Defense response to Gram-positive bacterium	IMP	21861459
GO:0050832	Process	Defense response to fungus	IEA
GO:0051289	Process	Protein homotetramerization	IDA	23163963
GO:0051673	Process	Disruption of plasma membrane integrity in another organism	IBA
GO:0051873	Process	Killing by host of symbiont cells	IDA	9169780
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
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	12660734, 25782105
GO:0140911	Function	Pore-forming activity	IBA
GO:1905710	Process	Positive regulation of membrane permeability	IMP	21861459

Other IDs

• MIM: 600472
• HGNC: 2764
• e!Ensembl: ENSG00000164816

Protein

• UniProt ID: Q01523
• Protein name: Defensin alpha 5 (Defensin-5) (HD5(20-94)) [Cleaved into: HD5(23-94); HD5(29-94); HD5(56-94); HD5(63-94)]
• Protein function: Host-defense peptide that maintains sterility in the urogenital system (PubMed:12021776, PubMed:12660734, PubMed:15616305, PubMed:19589339, PubMed:22359618, PubMed:22573326, PubMed:25354318, PubMed:25782105, PubMed:30808760). Has antimicrobial a
• PDB: 1ZMP, 2LXZ, 2MIT, 3I5W, 4E82, 4E83, 4E86, 4RBW, 4RBX, 5CUI, 5CUJ, 5CUM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00879	Defensin_propep	1 → 50	Defensin propeptide	Family
  PF00323	Defensin_1	65 → 93	Mammalian defensin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the gastrointestinal, reproductive, and urinary tracts (at protein level) (PubMed:12021776, PubMed:1429669, PubMed:22359618, PubMed:9588893). Expressed in Paneth cells of the small intestine (at protein level) (PubMed:1202
• Sequence:

  MRTIAILAAILLVALQAQAESLQERADEATTQKQSGEDNQDLAISFAGNGLSALRTSGSQ
  ARATCYCRTGRCATRESLSGVCEISGRLYRLCCR

• Sequence length: 94

Pathways

KEGG:

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

Reactome:

Defensins
Alpha-defensins

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
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	19269007		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	19269007		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	CTD_human_DG	15844706		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	Pubtator	24336024	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	32089753	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	15976333	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	40571309	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	20400909, 27636409		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	12519391	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	25768924, 33690604	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	15844706		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28077642, 29040430	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	11181568, 29193023, 31663908, 31703025		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	12519391	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	16989824	Inhibit	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	18258845		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	18258845, 22393312, 29556615, 33690604, 36792688	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	37062177	Inhibit	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	16619196, 38171775	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	20400909		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	32089753	Stimulate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	28934349, 30004111, 32086815	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic encephalopathy	Pubtator	31038755	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	CTD_human_DG	22197929, 25305756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	18394979, 28817680, 29211779		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	18394979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	CTD_human_DG	18394979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Diseases	Intestinal disease	Pubtator	15976333, 35142152	Associate	★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	15844706		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	20695797	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	20406964		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	20406964	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	35142152	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	21372757		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28077642	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	16961924	Associate	★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	CTD_human_DG	17934846		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	15976333	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37598668	Inhibit	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	20452301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	28817680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Tract Infections	Urinary tract infection	Pubtator	22359618	Associate	★☆☆☆☆ Found in Text Mining only