DEFB126 (defensin beta 126)

Gene

• Entrez ID: 81623
• Gene name: Defensin beta 126
• Gene symbol: DEFB126
• Synonyms (NCBI Gene): C20orf8, DEFB-26, DEFB26, HBD26, bA530N10.1, hBD-26
• Chromosome: 20
• Chromosome location: 20p13
• Summary: Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin gene

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016696	hsa-miR-335-5p	Microarray	18185580
MIRT931955	hsa-miR-4785	CLIP-seq
MIRT931956	hsa-miR-542-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0006952	Process	Defense response	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0042742	Process	Defense response to bacterium	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IDA	19373462
GO:0050829	Process	Defense response to Gram-negative bacterium	IEA
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	19373462

Other IDs

• MIM: 620131
• HGNC: 15900
• e!Ensembl: ENSG00000125788

Protein

• UniProt ID: Q9BYW3
• Protein name: Beta-defensin 126 (Beta-defensin 26) (DEFB-26) (Defensin, beta 126) (Epididymal secretory protein 13.2) (ESP13.2) (HBD26)
• Protein function: Highly glycosylated atypical beta-defensin involved in several aspects of sperm function. Facilitates sperm transport in the female reproductive tract and contributes to sperm protection against immunodetection; both functions are probably impli
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13841	Defensin_beta_2	26 → 59	Beta defensin	Domain

• Tissue specificity: TISSUE SPECIFICITY: High-level and epididymis-specific expression. Expression is down-regulated in infertile men. {ECO:0000269|PubMed:17928628}.
• Sequence:

  MKSLLFTLAVFMLLAQLVSGNWYVKKCLNDVGICKKKCKPEEMHVKNGWAMCGKQRDCCV
  PADRRANYPVFCVQTKTTRISTVTATTATTTLMMTTASMSSMAPTPVSPTG

• Sequence length: 111

Pathways

Reactome:

Beta defensins
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
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthenozoospermia	Asthenozoospermia	Pubtator	35381696	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	23055202		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19423540		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19423540	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19423540		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	21775668, 25721098, 26832966, 35381696	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	25721098, 26832966	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	23055202	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	23055202		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	23055202		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27421018	Associate	★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	21775668, 25721098, 26832966		★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	BEFREE	31504198		★☆☆☆☆ Found in Text Mining only