ALG2

Alpha-1,3/1,6-mannosyltransferase ALG2 is an enzyme that is encoded by the ALG2 gene.^[4] Mutations in the human gene are associated with congenital defects in glycosylation ^[5][6] The protein encoded by the ALG2 gene belongs to two classes of enzymes: GDP-Man:Man1GlcNAc2-PP-dolichol alpha-1,3-mannosyltransferase (EC 2.4.1.132) and GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase (EC 2.4.1.257).

ALG2
Identifiers
Aliases	ALG2, CDGIi, NET38, hALPG2, CMS14, CMSTA3, alpha-1,3/1,6-mannosyltransferase, CDG1I, ALG2 alpha-1,3/1,6-mannosyltransferase
External IDs	OMIM: 607905; MGI: 1914731; HomoloGene: 5930; GeneCards: ALG2; OMA:ALG2 - orthologs
Gene location (Mouse) Chr. Chromosome 4 (mouse)[1] Band 4|4 B1 Start 47,465,067 bp[1] End 47,474,333 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic epithelial cell corpus epididymis caput epididymis secondary oocyte germinal epithelium tibia islet of Langerhans body of pancreas visceral pleura parietal pleura Top expressed in median eminence dorsomedial hypothalamic nucleus paraventricular nucleus of hypothalamus supraoptic nucleus arcuate nucleus dorsal tegmental nucleus ventral tegmental area suprachiasmatic nucleus habenula lateral hypothalamus More reference expression data BioGPS n/a
Gene ontology Molecular function GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity transferase activity protein N-terminus binding protein heterodimerization activity glycosyltransferase activity protein binding calcium-dependent protein binding alpha-1,3-mannosyltransferase activity GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity Cellular component cytoplasm integral component of membrane nucleus membrane perinuclear region of cytoplasm endoplasmic reticulum membrane cytosol actin cytoskeleton Biological process response to calcium ion protein glycosylation dolichol-linked oligosaccharide biosynthetic process mannosylation oligosaccharide-lipid intermediate biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 85365 56737 Ensembl n/a ENSMUSG00000039740 UniProt Q9H553 Q9DBE8 RefSeq (mRNA) NM_033087 NM_197973 NM_019998 NM_001355496 RefSeq (protein) NP_149078 NP_064382 NP_001342425 Location (UCSC) n/a Chr 4: 47.47 – 47.47 Mb PubMed search [2] [3]
Wikidata
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Function

This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii).^[6]

Interactions

ALG2 has been shown to interact with ANXA7^[7] and ANXA11.^[7]