MAN2B1 Gene

Name	mannosidase, alpha, class 2B, member 1
Description	This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Alpha‐mannosidosis is a lysosomal storage disorder caused by a deficiency of the lysosomal α‐mannosidase encoded by the MAN2B1 gene. This enzyme is essential for the catabolism of N‐linked glycoproteins; it sequentially removes mannose residues from glycoconjugates within the lysosome to prevent the accumulation of mannose‐rich oligosaccharides."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Mutations in MAN2B1 can disrupt enzyme folding and subcellular localization, and studies have shown that when at least one mutant allele retains lysosomal targeting, patients tend to have a milder clinical phenotype compared to cases where the mutant protein is completely mislocalized."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " In addition, recombinant forms of MAN2B1 have been expressed in heterologous systems—including transgenic tobacco and cultured mammalian cells—to study its intracellular trafficking and to develop enzyme replacement strategies; these studies indicate that, in non‐animal cells, MAN2B1 can be directed to the vacuole via signals in its amino‐terminal region, bypassing the Golgi complex."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Furthermore, comprehensive mutation analyses in patients have improved our understanding of genotype–phenotype correlations, facilitating early diagnosis and the potential for therapeutic intervention."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Collectively, these findings underscore the pivotal role of MAN2B1 in lysosomal glycoprotein degradation and its relevance in the pathophysiology and treatment of alpha‐mannosidosis.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Line Borgwardt, Hilde Monica Frostad Riise Stensland, Klaus Juul Olsen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Orphanet J Rare Dis (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13023-015-0286-x"}], "href": "https://doi.org/10.1186/s13023-015-0286-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26048034"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26048034"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Meenakshi Venkatesan, Douglas A Kuntz, David R Rose "}, {"type": "b", "children": [{"type": "t", "text": "Human lysosomal alpha-mannosidases exhibit different inhibition and metal binding properties."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Protein Sci (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/pro.235"}], "href": "https://doi.org/10.1002/pro.235"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19722277"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19722277"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Michele Sbaragli, Lucia Bibi, Maria Gabriela Pittis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.9310"}], "href": "https://doi.org/10.1002/humu.9310"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15712269"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15712269"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Rahma Mkaouar, Zied Riahi, Cherine Charfeddine, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0258202"}], "href": "https://doi.org/10.1371/journal.pone.0258202"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34614013"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34614013"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Francesca De Marchis, Michele Bellucci, Andrea Pompa "}, {"type": "b", "children": [{"type": "t", "text": "Traffic of human α-mannosidase in plant cells suggests the presence of a new endoplasmic reticulum-to-vacuole pathway without involving the Golgi complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Plant Physiol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1104/pp.113.214536"}], "href": "https://doi.org/10.1104/pp.113.214536"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23449646"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23449646"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "T Berg, B King, P J Meikle, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Purification and characterization of recombinant human lysosomal alpha-mannosidase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1006/mgme.2001.3173"}], "href": "https://doi.org/10.1006/mgme.2001.3173"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11350179"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11350179"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Daphné Lehalle, Roberto Colombo, Michael O'Grady, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.61273"}], "href": "https://doi.org/10.1002/ajmg.a.61273"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31241255"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31241255"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Xiaoyun Wu, Jingxin Pan, Yibin Guo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Pediatr Endocrinol Metab (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1515/jpem-2013-0307"}], "href": "https://doi.org/10.1515/jpem-2013-0307"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24353136"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24353136"}]}]}]}
Synonyms	LAMAN, MANB
Proteins	MA2B1_HUMAN
NCBI Gene ID	4125
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

MAN2B1 has 7,421 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 138 datasets.

Click the + buttons to view associations for MAN2B1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

MAN2B1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by MAN2B1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of MAN2B1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of MAN2B1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of MAN2B1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of MAN2B1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of MAN2B1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of MAN2B1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving MAN2B1 protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of MAN2B1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of MAN2B1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of MAN2B1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of MAN2B1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of MAN2B1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of MAN2B1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with MAN2B1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with MAN2B1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of MAN2B1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of MAN2B1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of MAN2B1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with MAN2B1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with MAN2B1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of MAN2B1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing MAN2B1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of MAN2B1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing MAN2B1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing MAN2B1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing MAN2B1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with MAN2B1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with MAN2B1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of MAN2B1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with MAN2B1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with MAN2B1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of MAN2B1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by MAN2B1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving MAN2B1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving MAN2B1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with MAN2B1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with MAN2B1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with MAN2B1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with MAN2B1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.