From Wikipedia, the free encyclopedia
Protein O-mannosyl-transferase 2 is an enzyme that in humans is encoded by the POMT2 gene .[5] [6] [7]
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][7]
References [ ]
^ a b c GRCh38: Ensembl release 89: ENSG00000009830 - Ensembl , May 2017
^ a b c 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 .
^ a b "Entrez Gene: POMT2 protein-O-mannosyltransferase 2" .
Further reading [ ]
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. 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. 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. 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 [ ]
Categories :
Genes on human chromosome 14 Human chromosome 14 gene stubs