• Gene id: 81623

Gene Summary

• Gene Symbol: DEFB126   Gene   UCSC   Ensembl
• Aliases: C20orf8, DEFB-26, DEFB26, HBD26, bA530N10.1, hBD-26
• Gene name: defensin beta 126
• Alternate names: beta-defensin 126, epididymal secretory protein ESP13.2,
• Gene location: 20p13 (142552: 145750)     Exons: 2     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 0

SNPs

rs11467497

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.145515_145518CAAA[1]
NC_000020.10   g.126156_126159CAAA[1]
NM_030931.4   c.159_162CAAA[1]
NM_030931.3   c.159_162CAAA[1]
NP_112193.1   p.Gln55fs|SEQ=[CAAA/-]|GENE=DEFB126

rs140685149

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.145673_145674del
NC_000020.11   g.145674del
NC_000020.11   g.145674dup
NC_000020.10   g.126314_126315del
NC_000020.10   g.126315del
NC_000020.10   g.126315dup
NM_030931.4   c.317_318del
NM_030931.4   c.318del
NM_030931.4   c.318dup
NM_030931.3   c.317_3

Protein Summary

• Protein general information: Q9BYW3  
  • Name: Beta defensin 126 (Beta defensin 26) (DEFB 26) (Defensin, beta 126) (Epididymal secretory protein 13.2) (ESP13.2) (HBD26)
  • Length: 111  
  • Mass: 12,174
• Sequence:

  MKSLLFTLAVFMLLAQLVSGNWYVKKCLNDVGICKKKCKPEEMHVKNGWAMCGKQRDCCVPADRRANYPVFCVQT
  KTTRISTVTATTATTTLMMTTASMSSMAPTPVSPTG

• Structural information:
  • Interpro: IPR025933  
  • STRING: ENSP00000371835
• Other Databases: GeneCards:  DEFB126  Malacards:  DEFB126

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0007338	single fertilization	IEA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0030112	glycocalyx	IEA	cellular component
GO:0042742	defense response to bacterium	IBA	biological process
GO:0045087	innate immune response	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0006952	defense response	IEA	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0009986	cell surface	IBA	cellular component
GO:0030112	glycocalyx	IEA	cellular component
GO:0042742	defense response to bacterium	IBA	biological process
GO:0042742	defense response to bacterium	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0045087	innate immune response	IBA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0042742	defense response to bacterium	IBA	biological process
GO:0045087	innate immune response	IBA	biological process

Diseases

Associated diseases	References
Cancer (meningeal)	GAD: 20406964
Spermatogenesis defects	MIK: 22054405
Male factor infertility	MIK: 25721098
Azoospermia	MIK: 17928628
Male infertility	MIK: 26832966
Azoospermia	MIK: 17928628
Spermatogenic defects	MIK: 21775668
Male infertility	MIK: 31474436
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17928628	Azoospermia				Male infertility	CRISP1 SPINLW1 FAM12B DEFB129 CFTR AQP5 KCNK4 KCNK17 SLC6A20 SLC13A3 DEFB126 and DEFB106A
25721098	Male infertility	rs140685149, rs11467497, 4-nucleotide frame-shift mutation (151bp upstream of rs140685149)			Male infertility
22054405	Impaired sperm function, subfertility				Male infertility	DEFB126
21775668	Impaired sperm function and subfertility				Male infertility
26832966	Male subfertility	del/del
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31504198	Male infertility, sperm motility				Male infertility
31474436	Male infertility	2-nt deletion	Iranian	654 (277 Iranian males with unexplained infertility, including 139 patients who underwent intrauterine insemination (IUI) and 103 patients who underwent IVF/intracytoplasmic sperm injection (ICSI), as well as 35 infertile males, 100 fertile controls)	Male infertility