THC Science

POMT2
Identifiers
Aliases	POMT2, LGMD2N, MDDGA2, MDDGB2, MDDGC2, protein O-mannosyltransferase 2, LGMDR14
External IDs	OMIM: 607439; MGI: 2444430; HomoloGene: 5297; GeneCards: POMT2; OMA:POMT2 - orthologs
Gene location (Human)
Chr.	Chromosome 14 (human)
End	77,320,883 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	87,194,742 bp
RNA expression pattern
	Top expressed in
	Top expressed in
	More reference expression data
	More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
	Sources:Amigo / QuickGO
Orthologs
	29954
	217734
	ENSG00000009830
	ENSMUSG00000034126
	Q9UKY4
	Q8BGQ4
	NM_013382
	NM_153415
	NP_037514
	NP_700464
	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]

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]

^ ^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[edit]

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[edit]

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000009830 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034126 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11162531-5] 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.

[pmid12460945-6] 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.

[entrez-7] "Entrez Gene: POMT2 protein-O-mannosyltransferase 2".

[1]

[2]

[3]

[4]

[5]

[6]

[7]

THC Science

Bringing Science to the Cannabis Conversation!

Cannabaceae

Function[edit]

References[edit]

Further reading[edit]

External links[edit]

One thought on “Cannabaceae”

Leave a Reply