DEFA6 (defensin alpha 6)

Gene

• Entrez ID: 1671
• Gene name: Defensin alpha 6
• Gene symbol: DEFA6
• Synonyms (NCBI Gene): DEF6, HD-6
• 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,

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	25416956, 31515488, 32296183
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:0019731	Process	Antibacterial humoral response	IBA
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: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	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IBA
GO:0050830	Process	Defense response to Gram-positive bacterium	IBA
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
GO:0140911	Function	Pore-forming activity	IBA

Other IDs

• MIM: 600471
• HGNC: 2765
• e!Ensembl: ENSG00000164822

Protein

• UniProt ID: Q01524
• Protein name: Defensin-6 (Defensin, alpha 6)
• Protein function: Host-defense peptide that contributes to intestinal innate immunity and mediates homeostasis at mucosal surfaces by forming higher-order oligomers that capture bacteria and prevent microbial invasion of the epithelium (PubMed:15616305, PubMed:17
• PDB: 1ZMQ, 3QTE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00879	Defensin_propep	1 → 58	Defensin propeptide	Family
  PF00323	Defensin_1	72 → 99	Mammalian defensin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in Paneth cells of the small intestine (at protein level). {ECO:0000269|PubMed:27076903, ECO:0000269|PubMed:8417977, ECO:0000269|PubMed:8626737}.
• Sequence:

  MRTLTILTAVLLVALQAKAEPLQAEDDPLQAKAYEADAQEQRGANDQDFAVSFAEDASSS
  LRALGSTRAFTCHCRRSCYSTEYSYGTCTVMGINHRFCCL

• Sequence length: 100

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
COLITIS, ULCERATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Appendicitis	Appendicitis	Pubtator	24336024	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	12519391	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	15613481		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	15613481, 20979654	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30932884		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15613481, 18212756	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20979654	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	11181568, 17709525, 22393312, 26891258		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	16989824	Inhibit	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	20117337, 22393312, 37496049	Associate	★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	37017768	Associate	★☆☆☆☆ 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	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22488912		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	16619196	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30932884		★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	30420878		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	30420878		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	16961924	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	20452301		★☆☆☆☆ Found in Text Mining only