HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MAN2B2
mannosidase alpha class 2B member 2
Chromosome 4 Β· 4p16.1
NCBI Gene: 23324Ensembl: ENSG00000013288.10HGNC: HGNC:29623UniProt: B7Z754
43PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
glycoprotein catabolic processprotein bindingoligosaccharide catabolic processlysosomal lumencongenital disorder of glycosylation type 1EE with or without immunodeficiencyblood coagulation diseasemalignant renal pelvis neoplasmAbruptio Placentae
✦AI Summary

MAN2B2 (mannosidase alpha class 2B member 2) is a lysosomal enzyme that specifically cleaves terminal alpha 1,6-linked mannose residues from Man3GlcNAc and Man2GlcNAc oligosaccharides during N-glycan degradation, showing minimal activity on larger mannose oligosaccharides 12. The enzyme acts complementarily with lysosomal alpha-mannosidase (MAN2B1) to effect complete glycan degradation within lysosomes 3. MAN2B2 is ubiquitously expressed across tissues 4 and exhibits differential inhibition patterns and metal binding properties compared to related mannosidases 3. Pathogenic variants in MAN2B2 cause congenital disorders of glycosylation type 1EE (MAN2B2-CDG), a rare inherited metabolic disorder characterized by disrupted N-linked glycosylation patterns 56. Clinical manifestations include developmental delay, dysmorphic facial features, immune dysregulation, and gastrointestinal dysfunction 756. MAN2B2 expression is upregulated in Gram-positive bacterial sepsis in preterm neonates, potentially contributing to immunomodulatory responses 8. Understanding MAN2B2 function is critical for comprehending N-glycan metabolism and developing targeted therapies for glycosylation disorders.

Sources cited
1
MAN2B2 substrate specificity: cleaves terminal alpha 1,6-linked mannose on Man3GlcNAc and Man2GlcNAc, with little activity on larger oligosaccharides
PMID: 1577805
2
MAN2B2 substrate specificity: does not cleave alpha 1,6-linked mannose on Man3GlcNAc2 or alpha 1,3-mannose linkages
PMID: 16115860
3
MAN2B2 (hEpman) acts complementarily with hLM in lysosomal glycan degradation and shows differential inhibition and metal binding properties
PMID: 19722277
4
MAN2B2 mouse homologue is ubiquitously expressed across tissues, not spermatogonia-specific
PMID: 10860856
5
Compound heterozygous MAN2B2 variants cause CDG with developmental delay, dysmorphic features, cleft palate, and disrupted N-glycosylation
PMID: 35637269
6
First reported case of MAN2B2 deficiency with immune dysregulation, developmental delay, and stroke; restored by wild-type MAN2B2 transduction
PMID: 31775018
7
MAN2B2-CDG presents with metabolic abnormalities, digestive dysfunction, infection, seizures, and novel immune dysregulation
PMID: 38622837
8
MAN2B2 is overexpressed in Gram-positive bacterial sepsis in preterm neonates, associated with better clinical outcomes
PMID: 33767373
Disease Associationsβ“˜21
congenital disorder of glycosylation type 1EE with or without immunodeficiencyOpen Targets
0.48Moderate
blood coagulation diseaseOpen Targets
0.31Weak
malignant renal pelvis neoplasmOpen Targets
0.26Weak
Abruptio PlacentaeOpen Targets
0.26Weak
gastric cancerOpen Targets
0.23Weak
congenital disorder of glycosylationOpen Targets
0.11Weak
diabetes mellitus, permanent neonatal 4Open Targets
0.03Suggestive
intestinal lymphangiectasiaOpen Targets
0.03Suggestive
primary intestinal lymphangiectasiaOpen Targets
0.03Suggestive
maturity-onset diabetes of the young type 13Open Targets
0.03Suggestive
MODYOpen Targets
0.03Suggestive
Omenn syndromeOpen Targets
0.03Suggestive
permanent neonatal diabetes mellitus 1Open Targets
0.03Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.03Suggestive
Aplasia cutis congenita - intestinal lymphangiectasiaOpen Targets
0.03Suggestive
aplasia cutis congenita-intestinal lymphangiectasia syndromeOpen Targets
0.03Suggestive
lumbar disc degenerationOpen Targets
0.02Suggestive
myxosarcomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
systemic lupus erythematosusOpen Targets
0.01Suggestive
Congenital disorder of glycosylation 1EE with or without immunodeficiencyUniProt
Pathogenic Variants5
NM_015274.3(MAN2B2):c.852G>A (p.Trp284Ter)Likely pathogenic
Congenital disorder of glycosylation type 1EE with or without immunodeficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 284
NM_015274.3(MAN2B2):c.1843C>T (p.Gln615Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†β†’ Residue 615
NM_015274.3(MAN2B2):c.2368G>A (p.Glu790Lys)Pathogenic
Congenital disorder of glycosylation type 1EE with or without immunodeficiency
β˜†β˜†β˜†β˜†2025β†’ Residue 790
NM_015274.3(MAN2B2):c.926T>A (p.Ile309Asn)Pathogenic
not provided
β˜†β˜†β˜†β˜†2025β†’ Residue 309
NM_015274.3(MAN2B2):c.384G>T (p.Gln128His)Pathogenic
not provided
β˜†β˜†β˜†β˜†2025β†’ Residue 128
View on ClinVar β†—
Related Genes
MAN2C1Protein interaction86%MAN2B1Protein interaction86%MANBAShared pathway60%MAN2A2Shared pathway40%CTBSShared pathway33%NEU2Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Liver
80%
Heart
78%
Lung
69%
Bone Marrow
66%
Brain
34%
Gene Interaction Network
Click a node to explore
MAN2B2MAN2C1MAN2B1MANBAMAN2A2CTBSNEU2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y2E5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.02LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.87 [0.74–1.02]
RankingsWhere MAN2B2 stands among ~20K protein-coding genes
  • #9,751of 20,598
    Most Researched43
  • #3,591of 5,498
    Most Pathogenic Variants5
  • #10,077of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedMAN2B2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Glycogen debranching enzyme 6 (AGL), enolase 1 (ENOSF1), ectonucleotide pyrophosphatase 2 (ENPP2_1), glutathione S-transferase 3 (GSTM3_3) and mannosidase (MAN2B2) metabolism computational network analysis between chimpanzee and human left cerebrum.
PMID: 21735130
Cell Biochem Biophys Β· 2011
1.00
2
Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation.
PMID: 35637269
Eur J Hum Genet Β· 2023
0.90
3
Transcriptome profiles discriminate between Gram-positive and Gram-negative sepsis in preterm neonates.
PMID: 33767373
Pediatr Res Β· 2022
0.80
4
Fine mapping a quantitative trait locus affecting ovulation rate in swine on chromosome 8.
PMID: 12854806
J Anim Sci Β· 2003
0.70
5
Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.
PMID: 38622837
Mol Genet Genomic Med Β· 2024
0.60