Protein O-mannosyl-transferase 2 is an enzyme that in humans is encoded by the POMT2 gene.[5][6][7]
| POMT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | POMT2, LGMD2N, MDDGA2, MDDGB2, MDDGC2, protein O-mannosyltransferase 2, LGMDR14 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607439; MGI: 2444430; HomoloGene: 5297; GeneCards: POMT2; OMA:POMT2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
editPOMT2 encodes an integral membrane protein of the endoplasmic reticulum (ER) that shares significant sequence similarity with a family of protein O-mannosyltransferases of S. cerevisiae. For additional background information, see POMT1 (MIM 607423).[supplied by OMIM][7]
The POMT2 gene encodes for an enzyme called protein o-mannosyltransferase 2. This enzyme is responsible for α-dystroglycan glycosylation, an essential post-translational protein modification that allows cell surface membrane proteins to attach to the surrounding extracellular matrix. This post-translational process is especially important in muscle cells, and POMT2 variants have been directly associated with the development of various muscular dystrophies. Recently, researchers have identified POMT2 variations in patients suffering from a rare muscular dystrophy called limb-girdle muscular dystrophy R14. [8] In other species, it is hypothesized that POMT2 missense substitution mutations play a role in hypoxia adaptations for hibernating mammals. Hibernation is associated with many physiological and metabolic changes, including long term slower breathing rates which can pose a potential physiological stressor. To compensate for this, hibernating mammals possess genes that help them survive in low-oxygen environments for long periods of time. One of these genes is the POMT2 gene. The mechanism by which this gene codes for hypoxia adaptations has yet to be fully understood, however through close genetic and phylogenetic analysis, five different hibernating mammals have been shown to possess this beneficial mutation. [9]
References
edit- 1 2 3 GRCh38: Ensembl release 89: ENSG00000009830 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034126 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Fukuda S, Sumii M, Masuda Y, Takahashi M, Koike N, Teishima J, Yasumoto H, Itamoto T, Asahara T, Dohi K, Kamiya K (Feb 2001). "Murine and human SDF2L1 is an endoplasmic reticulum stress-inducible gene and encodes a new member of the Pmt/rt protein family". Biochem Biophys Res Commun. 280 (1): 407–14. doi:10.1006/bbrc.2000.4111. PMID 11162531.
- ↑ Willer T, Amselgruber W, Deutzmann R, Strahl S (Dec 2002). "Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids". Glycobiology. 12 (11): 771–83. doi:10.1093/glycob/cwf086. PMID 12460945.
- 1 2 "Entrez Gene: POMT2 protein-O-mannosyltransferase 2".
- ↑ Yang, G., Lv, X., Wu, W., Wang, G., Yang, M., Feng, Y., Yan, C., Liu, M., & Lin, P. (2025). Novel pomt2 variants associated with limb-girdle muscular dystrophy R14. Genetic, histological and functional studies. Orphanet Journal of Rare Diseases, 20(1). https://doi.org/10.1186/s13023-025-03578-7
- ↑ Zhang, J., Zhang, X., Liu, N., Hu, J., Hiller, M., Sharma, V., Han, F., Dai, H., Tu, X., Cooper, D. N., Wu, D.-D., & Zeng, L. (2026). A pomt2 missense substitution contributes to hypoxia adaptation in hibernating mammals. Molecular Biology and Evolution, 43(2). https://doi.org/10.1093/molbev/msag001
Further reading
edit- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Heilig R, Eckenberg R, Petit JL, et al. (2003). "The DNA sequence and analysis of human chromosome 14". Nature. 421 (6923): 601–7. Bibcode:2003Natur.421..601H. doi:10.1038/nature01348. PMID 12508121.
- Manya H, Chiba A, Yoshida A, et al. (2004). "Demonstration of mammalian protein O-mannosyltransferase activity: Coexpression of POMT1 and POMT2 required for enzymatic activity". Proc. Natl. Acad. Sci. U.S.A. 101 (2): 500–5. Bibcode:2004PNAS..101..500M. doi:10.1073/pnas.0307228101. PMC 327176. PMID 14699049.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- van Reeuwijk J, Janssen M, van den Elzen C, et al. (2006). "POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome". J. Med. Genet. 42 (12): 907–12. doi:10.1136/jmg.2005.031963. PMC 1735967. PMID 15894594.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Akasaka-Manya K, Manya H, Nakajima A, et al. (2006). "Physical and functional association of human protein O-mannosyltransferases 1 and 2". J. Biol. Chem. 281 (28): 19339–45. doi:10.1074/jbc.M601091200. PMID 16698797.
- Yanagisawa A, Bouchet C, Van den Bergh PY, et al. (2007). "New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation" (PDF). Neurology. 69 (12): 1254–60. doi:10.1212/01.wnl.0000268489.60809.c4. PMID 17634419. S2CID 26108950.
- Biancheri R, Falace A, Tessa A, et al. (2007). "POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes". Biochem. Biophys. Res. Commun. 363 (4): 1033–7. doi:10.1016/j.bbrc.2007.09.066. PMID 17923109.
External links
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