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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ALG2
ALG2 alpha-1,3/1,6-mannosyltransferase
Chromosome 9 Β· 9q22.33
NCBI Gene: 85365Ensembl: ENSG00000119523.10HGNC: HGNC:23159UniProt: A0A0A0MTE0
50PubMed Papers
22Diseases
0Drugs
11Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein N-linked glycosylationalpha-1,3-mannosyltransferase activityGDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activityprotein bindingALG2-congenital disorder of glycosylationCongenital myasthenic syndromesneurodegenerative diseasecongenital disorder of glycosylation
✦AI Summary

ALG2 (alpha-1,3/1,6-mannosyltransferase) is a mannosyltransferase that catalyzes a critical step in N-linked glycosylation by adding the second and third mannose residues to dolichol-linked oligosaccharide precursors on the cytoplasmic face of the endoplasmic reticulum 1. Specifically, ALG2 transfers alpha-1,3-mannose followed preferentially by alpha-1,6-mannose onto ManGlcNAc2-pyrophosphate-dolichol to generate the branched Man3GlcNAc2-pyrophosphate-dolichol core oligosaccharide, which serves as substrate for subsequent glycosylation enzymes 1. This sequential biosynthesis is essential for generating the 14-sugar oligosaccharide that nascent proteins receive through N-glycosylation. Beyond its canonical role in glycosylation, ALG2 functions as a calcium-sensing protein involved in cellular stress responses. Upon lysosomal calcium release triggered by osmotic or nutrient stress, ALG2 recruits ESCRT proteins to damaged lysosomes, enhancing membrane resilience and preventing rupture 2. Additionally, calcium signaling through the ALG2-ALIX complex promotes stress granule formation for cell survival during lysosomal damage 3. Pathogenic ALG2 variants cause congenital disorder of glycosylation 1I and congenital myasthenic syndrome 14 4, reflecting the critical importance of proper N-glycosylation for neuromuscular junction function and overall protein quality.

Sources cited
1
ALG2 adds alpha-1,3- and alpha-1,6-mannose residues to generate Man3GlcNAc2-pyrophosphate-dolichol and preferentially transfers alpha-1,3-mannose first under physiological conditions
PMID: 35136180
2
ALG2 is a calcium-sensor that recruits ESCRT proteins to lysosomes upon calcium release, enhancing lysosomal membrane resilience during osmotic stress
PMID: 38781205
3
Calcium-activated ALG2-ALIX complex regulates stress granule formation through PKR-EIF2S1 pathway to promote cell survival following lysosomal damage
PMID: 39962896
4
ALG2 mutations cause congenital myasthenic syndromes and are among 35 genes associated with congenital myasthenic syndromes affecting neuromuscular junction function
PMID: 36835142
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
ALG2-congenital disorder of glycosylationOpen Targets
0.73Strong
Congenital myasthenic syndromesOpen Targets
0.69Moderate
neurodegenerative diseaseOpen Targets
0.45Moderate
congenital disorder of glycosylationOpen Targets
0.41Moderate
congenital disorder of glycosylation type IOpen Targets
0.37Weak
congenital myasthenic syndromes with glycosylation defectOpen Targets
0.37Weak
mathematical abilityOpen Targets
0.32Weak
risk-taking behaviourOpen Targets
0.28Weak
attention deficit hyperactivity disorderOpen Targets
0.23Weak
substance abuseOpen Targets
0.22Weak
obesityOpen Targets
0.22Weak
smoking behaviorOpen Targets
0.21Weak
chronic rhinosinusitis with nasal polypsOpen Targets
0.21Weak
Nasal Cavity PolypOpen Targets
0.21Weak
asthmaOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
crush injuryOpen Targets
0.19Weak
injuryOpen Targets
0.18Weak
health study participationOpen Targets
0.16Weak
smoking initiationOpen Targets
0.16Weak
Congenital disorder of glycosylation 1IUniProt
Myasthenic syndrome, congenital, 14UniProt
Pathogenic Variants11
NM_033087.4(ALG2):c.1040del (p.Gly347fs)Pathogenic
ALG2-congenital disorder of glycosylation;Congenital myasthenic syndrome 14|ALG2-congenital disorder of glycosylation|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 347
NM_033087.4(ALG2):c.216delinsTCCCC (p.Asp73fs)Likely pathogenic
ALG2-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 73
NM_033087.4(ALG2):c.214_224delinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg)Pathogenic
Congenital myasthenic syndrome 14|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 72
NM_033087.4(ALG2):c.814G>T (p.Glu272Ter)Likely pathogenic
ALG2-congenital disorder of glycosylation;Congenital myasthenic syndrome 14
β˜…β˜†β˜†β˜†2023β†’ Residue 272
NM_033087.4(ALG2):c.218_225del (p.Asp73fs)Likely pathogenic
ALG2-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2020β†’ Residue 73
NM_033087.4(ALG2):c.1193T>C (p.Phe398Ser)Likely pathogenic
Congenital myasthenic syndrome 14
β˜†β˜†β˜†β˜†2023β†’ Residue 398
NM_033087.4(ALG2):c.752G>T (p.Arg251Leu)Pathogenic
ALG2-congenital disorder of glycosylation
β˜†β˜†β˜†β˜†2022β†’ Residue 251
NM_033087.4(ALG2):c.215_225del (p.Gly72fs)Pathogenic
Congenital myasthenic syndrome 14
β˜†β˜†β˜†β˜†2016β†’ Residue 72
NM_033087.4(ALG2):c.203T>G (p.Val68Gly)Pathogenic
Congenital myasthenic syndrome 14
β˜†β˜†β˜†β˜†2013β†’ Residue 68
NM_033087.4(ALG2):c.393G>T (p.Lys131Asn)Pathogenic
ALG2-congenital disorder of glycosylation
β˜†β˜†β˜†β˜†2003β†’ Residue 131
NM_033087.4(ALG2):c.176G>A (p.Cys59Tyr)Likely pathogenic
ALG2-congenital disorder of glycosylation
β˜†β˜†β˜†β˜†β†’ Residue 59
View on ClinVar β†—
Related Genes
ALG3Protein interaction99%ALG1Protein interaction99%ALG6Protein interaction98%ALG12Protein interaction98%ALG11Protein interaction84%PMM2Protein interaction76%
Tissue Expression6 tissues
Liver
100%
Ovary
56%
Lung
56%
Bone Marrow
54%
Heart
37%
Brain
34%
Gene Interaction Network
Click a node to explore
ALG2ALG3ALG1ALG6ALG12ALG11PMM2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9H553
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.41LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.05 [0.79–1.41]
RankingsWhere ALG2 stands among ~20K protein-coding genes
  • #8,765of 20,598
    Most Researched50
  • #2,782of 5,498
    Most Pathogenic Variants11
  • #14,564of 17,882
    Most Constrained (LOEUF)1.41
Genes detectedALG2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
ATM loss disrupts the autophagy-lysosomal pathway.
PMID: 32757690
Autophagy Β· 2021
1.00
2
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
PMID: 36835142
Int J Mol Sci Β· 2023
0.90
3
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.80
4
COPII with ALG2 and ESCRTs control lysosome-dependent microautophagy of ER exit sites.
PMID: 38593803
Dev Cell Β· 2024
0.70
5
Exosomes as therapeutic drug carriers and delivery vehicles across biological membranes: current perspectives and future challenges.
PMID: 27471669
Acta Pharm Sin B Β· 2016
0.60