POMT2, LGMD2N, MDDGA2, MDDGB2, MDDGC2, protein O-mannosyltransferase 2, LGMDR14
External IDs
MGI: 2444430 HomoloGene: 5297 GeneCards: POMT2
Gene location (Human)
Chr.
Chromosome 14 (human)[1]
Band
14q24.3
Start
77,274,956 bp[1]
End
77,320,884 bp[1]
Gene location (Mouse)
Chr.
Chromosome 12 (mouse)[2]
Band
12|12 D2
Start
87,106,861 bp[2]
End
87,147,968 bp[2]
RNA expression pattern
More reference expression data
Gene ontology
Molecular function
• transferase activity, transferring glycosyl groups • dolichyl-phosphate-mannose-protein mannosyltransferase activity • transferase activity • mannosyltransferase activity • metal ion binding
Cellular component
• integral component of membrane • endoplasmic reticulum • membrane • endoplasmic reticulum membrane
Biological process
• protein O-linked glycosylation • protein O-linked mannosylation • ER-associated misfolded protein catabolic process • mannosylation • positive regulation of protein O-linked glycosylation • protein glycosylation
Sources:Amigo / QuickGO
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
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
Protein O-mannosyl-transferase 2 is an enzyme that in humans is encoded by the POMT2 gene.[5][6][7]
Contents
1Function
2References
3Further reading
4External links
Function[edit]
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[edit]
^ abcGRCh38: Ensembl release 89: ENSG00000009830 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000034126 - Ensembl, May 2017
^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.
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[edit]
GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
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