- POMT2
Protein-O-mannosyltransferase 2, also known as POMT2, is a human
gene .cite web | title = Entrez Gene: POMT2 protein-O-mannosyltransferase 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=29954| accessdate = ]PBB_Summary
section_title =
summary_text = 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] cite web | title = Entrez Gene: POMT2 protein-O-mannosyltransferase 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=29954| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Fukuda S, Sumii M, Masuda Y, "et al." |title=Murine and human SDF2L1 is an endoplasmic reticulum stress-inducible gene and encodes a new member of the Pmt/rt protein family. |journal=Biochem. Biophys. Res. Commun. |volume=280 |issue= 1 |pages= 407–14 |year= 2001 |pmid= 11162531 |doi= 10.1006/bbrc.2000.4111
*cite journal | author=Willer T, Amselgruber W, Deutzmann R, Strahl S |title=Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids. |journal=Glycobiology |volume=12 |issue= 11 |pages= 771–83 |year= 2004 |pmid= 12460945 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Heilig R, Eckenberg R, Petit JL, "et al." |title=The DNA sequence and analysis of human chromosome 14. |journal=Nature |volume=421 |issue= 6923 |pages= 601–7 |year= 2003 |pmid= 12508121 |doi= 10.1038/nature01348
*cite journal | author=Manya H, Chiba A, Yoshida A, "et al." |title=Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 2 |pages= 500–5 |year= 2004 |pmid= 14699049 |doi= 10.1073/pnas.0307228101
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=van Reeuwijk J, Janssen M, van den Elzen C, "et al." |title=POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. |journal=J. Med. Genet. |volume=42 |issue= 12 |pages= 907–12 |year= 2006 |pmid= 15894594 |doi= 10.1136/jmg.2005.031963
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Akasaka-Manya K, Manya H, Nakajima A, "et al." |title=Physical and functional association of human protein O-mannosyltransferases 1 and 2. |journal=J. Biol. Chem. |volume=281 |issue= 28 |pages= 19339–45 |year= 2006 |pmid= 16698797 |doi= 10.1074/jbc.M601091200
*cite journal | author=Yanagisawa A, Bouchet C, Van den Bergh PY, "et al." |title=New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. |journal=Neurology |volume=69 |issue= 12 |pages= 1254–60 |year= 2007 |pmid= 17634419 |doi= 10.1212/01.wnl.0000268489.60809.c4
*cite journal | author=Biancheri R, Falace A, Tessa A, "et al." |title=POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. |journal=Biochem. Biophys. Res. Commun. |volume=363 |issue= 4 |pages= 1033–7 |year= 2007 |pmid= 17923109 |doi= 10.1016/j.bbrc.2007.09.066PBB_Controls
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