POMT2

Protein O-mannosyl-transferase 2 is an enzyme that in humans is encoded by the POMT2 gene.^[5][6][7]

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)[1] Band 14q24.3 Start 77,274,956 bp[1] End 77,320,883 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 D2 Start 87,153,635 bp[2] End 87,194,742 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right testis left testis right lobe of thyroid gland anterior pituitary left lobe of thyroid gland stromal cell of endometrium ventricular zone right adrenal cortex olfactory zone of nasal mucosa left adrenal cortex Top expressed in spermatid spermatocyte posterior nasal aperture seminiferous tubule lesser wing of sphenoid bone mandible right kidney tail of embryo neural layer of retina proximal tubule 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 [3] [4]
Wikidata
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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]^[7]