POMT2 explained

Protein O-mannosyl-transferase 2 is an enzyme that in humans is encoded by the POMT2 gene.^{[1] [2] [3]}

Function

POMT2 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]

Further reading

• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
• Strausberg RL . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Heilig R . The DNA sequence and analysis of human chromosome 14 . Nature . 421 . 6923 . 601–7 . 2003 . 12508121 . 10.1038/nature01348 . vanc. Eckenberg R . Petit JL . 3 . Fonknechten . Núria . Da Silva . Corinne . Cattolico . Laurence . Levy . Michaël . Barbe . Valérie . De Berardinis . Véronique . 2003Natur.421..601H . free .
• Manya H . 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 . 2004 . 14699049 . 10.1073/pnas.0307228101 . 327176 . vanc. Chiba A . Yoshida A . 3 . Wang . X . Chiba . Y . Jigami . Y . Margolis . RU . Endo . T . 2004PNAS..101..500M . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Gerhard DS . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• van Reeuwijk J . POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome . J. Med. Genet. . 42 . 12 . 907–12 . 2006 . 15894594 . 10.1136/jmg.2005.031963 . 1735967 . vanc. Janssen M . van den Elzen C . 3 . Beltran-Valero De Bernabé . D . Sabatelli . P . Merlini . L . Boon . M . Scheffer . H . Brockington . M .
• Kimura K . Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . vanc. Wakamatsu A . Suzuki Y . 3 . Ota . T . Nishikawa . T . Yamashita . R . Yamamoto . J . Sekine . M . Tsuritani . K .
• Akasaka-Manya K . Physical and functional association of human protein O-mannosyltransferases 1 and 2 . J. Biol. Chem. . 281 . 28 . 19339–45 . 2006 . 16698797 . 10.1074/jbc.M601091200 . vanc. Manya H . Nakajima A . 3 . Kawakita . M . Endo . T . free .
• Yanagisawa A . New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation . Neurology . 69 . 12 . 1254–60 . 2007 . 17634419 . 10.1212/01.wnl.0000268489.60809.c4 . vanc. Bouchet C . Van den Bergh PY . 3 . Cuisset . J. -M. . Viollet . L. . Leturcq . F. . Romero . N. B. . Quijano-Roy . S. . Fardeau . M. . 26108950 .
• Biancheri R . POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes . Biochem. Biophys. Res. Commun. . 363 . 4 . 1033–7 . 2007 . 17923109 . 10.1016/j.bbrc.2007.09.066 . vanc. Falace A . Tessa A . 3 . Pedemonte . Marina . Scapolan . Sara . Cassandrini . Denise . Aiello . Chiara . Rossi . Andrea . Broda . Paolo .

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview

Notes and References

1. Fukuda S, Sumii M, Masuda Y, Takahashi M, Koike N, Teishima J, Yasumoto H, Itamoto T, Asahara T, Dohi K, Kamiya K . 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 . Feb 2001 . 11162531 . 10.1006/bbrc.2000.4111 .
2. Willer T, Amselgruber W, Deutzmann R, Strahl S . 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 . Dec 2002 . 12460945 . 10.1093/glycob/cwf086 .
3. Web site: Entrez Gene: POMT2 protein-O-mannosyltransferase 2.