POMT2
| Protein-O-mannosyltransferase 2 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | POMT2 ; LGMD2N; MDDGA2; MDDGB2; MDDGC2 | ||||||||||||
| External IDs | OMIM: 607439 MGI: 2444430 HomoloGene: 5297 GeneCards: POMT2 Gene | ||||||||||||
| EC number | 2.4.1.109 | ||||||||||||
| |||||||||||||
| RNA expression pattern | |||||||||||||
 | |||||||||||||
| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 29954 | 217734 | |||||||||||
| Ensembl | ENSG00000009830 | ENSMUSG00000034126 | |||||||||||
| UniProt | Q9UKY4 | Q8BGQ4 | |||||||||||
| RefSeq (mRNA) | NM_013382 | NM_153415 | |||||||||||
| RefSeq (protein) | NP_037514 | NP_700464 | |||||||||||
| Location (UCSC) | Chr 14: 77.27 – 77.32 Mb | Chr 12: 87.11 – 87.15 Mb | |||||||||||
| PubMed search | |||||||||||||
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][3]
References
- ↑ 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.
- ↑ 3.0 3.1 "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". Neurology 69 (12): 1254–60. doi:10.1212/01.wnl.0000268489.60809.c4. PMID 17634419.
- 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
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||