DEFB126

DEFB126
Identifiers
Aliases	DEFB126 , C20orf8, DEFB-26, DEFB26, bA530N10.1, hBD-26, HBD26, defensin beta 126
External IDs	HomoloGene: 49954 GeneCards: DEFB126
Gene location (Human) Chr. Chromosome 20 (human) [1] Band 20p13 Start 142,590 bp [1] End 145,751 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis sperm caput epididymis seminal vesicula muscle tissue sensory organ face placenta upper respiratory tract fallopian tube n/a More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 81623 n/a Ensembl ENSG00000125788 n/a UniProt Q9BYW3 n/a RefSeq (mRNA) NM_030931 n/a RefSeq (protein) NP_112193 n/a Location (UCSC) Chr 20: 0.14 – 0.15 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Beta-defensin 126 is a protein that in humans is encoded by the DEFB126 gene. ^{[3] [4]}

Function

Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey. ^[4]

It has been suggested that a common variation in the DEFB126 gene generates abnormal mRNA and can somewhat impair fertility. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000125788 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ, Casavant TL, McCray PB (Feb 2002). "Discovery of five conserved beta -defensin gene clusters using a computational search strategy". Proceedings of the National Academy of Sciences of the United States of America. 99 (4): 2129–33. Bibcode:2002PNAS...99.2129S. doi: 10.1073/pnas.042692699 . PMC   122330 . PMID   11854508.
4. "Entrez Gene: DEFB126 defensin, beta 126".
5. Tollner TL, Venners SA, Hollox EJ, Yudin AI, Liu X, Tang G, Xing H, Kays RJ, Lau T, Overstreet JW, Xu X, Bevins CL, Cherr GN (Jul 2011). "A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility". Science Translational Medicine. 3 (92): 92ra65. doi:10.1126/scitranslmed.3002289. PMC   3736313 . PMID   21775668.
   • Pam Belluck (July 20, 2011). "Study Links Male Infertility to a Missing Protein" . The New York Times.

Further reading

• Rodríguez-Jiménez FJ, Krause A, Schulz S, Forssmann WG, Conejo-Garcia JR, Schreeb R, Motzkus D (Feb 2003). "Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis". Genomics. 81 (2): 175–83. doi:10.1016/S0888-7543(02)00034-4. PMID   12620395.
• Perry AC, Jones R, Moisyadi S, Coadwell J, Hall L (Oct 1999). "The novel epididymal secretory protein ESP13.2 in Macaca fascicularis". Biology of Reproduction. 61 (4): 965–72. doi: 10.1095/biolreprod61.4.965 . PMID   10491631.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.