MAN2A1

Alpha-mannosidase 2 is an enzyme that in humans is encoded by the MAN2A1 gene.^[5][6][7]

MAN2A1
Identifiers
Aliases	MAN2A1, AMan II, GOLIM7, MANA2, MANII, mannosidase alpha class 2A member 1
External IDs	OMIM: 154582; MGI: 104669; HomoloGene: 1777; GeneCards: MAN2A1; OMA:MAN2A1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q21.3 Start 109,689,927 bp[1] End 109,869,625 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 E1.1 Start 64,907,731 bp[2] End 65,062,105 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus callosum Achilles tendon jejunal mucosa inferior ganglion of vagus nerve stromal cell of endometrium retinal pigment epithelium endothelial cell C1 segment mucosa of sigmoid colon duodenum Top expressed in stroma of bone marrow lacrimal gland decidua seminal vesicula gastrula vestibular membrane of cochlear duct efferent ductule left lobe of liver Paneth cell dermis More reference expression data BioGPS n/a
Gene ontology Molecular function mannosidase activity hydrolase activity, hydrolyzing N-glycosyl compounds hydrolase activity, acting on glycosyl bonds metal ion binding catalytic activity mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity hydrolase activity carbohydrate binding alpha-mannosidase activity Cellular component integral component of membrane Golgi apparatus membrane Golgi membrane cis-Golgi network extracellular exosome extracellular space Golgi medial cisterna Biological process N-glycan processing mitochondrion organization vacuole organization in utero embryonic development protein deglycosylation respiratory gaseous exchange by respiratory system positive regulation of neurogenesis retina morphogenesis in camera-type eye protein glycosylation liver development lung alveolus development metabolism mannose metabolic process carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4124 17158 Ensembl ENSG00000112893 ENSMUSG00000024085 UniProt Q16706 P27046 RefSeq (mRNA) NM_002372 NM_008549 RefSeq (protein) NP_002363 NP_032575 Location (UCSC) Chr 5: 109.69 – 109.87 Mb Chr 17: 64.91 – 65.06 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a protein which is a member of family 38 of the glycosyl hydrolases. The protein is located in the Golgi apparatus and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-linked glycosylation) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus.^[7]