POMT2

POMT2
Identifiers
Aliases	POMT2, LGMD2N, MDDGA2, MDDGB2, MDDGC2, protein O-mannosyltransferase 2, LGMDR14
External IDs	OMIM: 607439 MGI: 2444430 HomoloGene: 5297 GeneCards: POMT2
Gene location (Human) Chr. Chromosome 14 (human) Band 14q24.3 Start 77,274,956 bp End 77,320,883 bp
Gene location (Mouse) Chr. Chromosome 12 (mouse) Band 12|12 D2 Start 87,153,635 bp End 87,194,742 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of thyroid gland anterior pituitary left lobe of thyroid gland stromal cell of endometrium gastrocnemius muscle islet of Langerhans canal of the cervix ganglionic eminence corpus callosum tibial nerve Top expressed in spermatid spermatocyte seminiferous tubule lesser wing of sphenoid bone human mandible proximal tubule right ventricle yolk sac submandibular gland visual cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function glycosyltransferase activity 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: 87.15 – 87.19 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Protein O-mannosyl-transferase 2 is an enzyme that in humans is encoded by the POMT2 gene.

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 (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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2003Natur.421..601H. 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. Bibcode:2004PNAS..101..500M. 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

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