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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MGAM2
maltase-glucoamylase 2 (putative)
Chromosome 7 · 7q34
NCBI Gene: 93432Ensembl: ENSG00000257743.9HGNC: HGNC:28101UniProt: Q2M2H8
8PubMed Papers
20Diseases
2Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
alpha-1,4-glucosidase activityhydrolase activity, hydrolyzing O-glycosyl compoundscarbohydrate bindingalpha-glucosidase activitytype 2 diabetes mellitusdiabetes mellitusconnective tissue diseaseParkinson disease
✦AI Summary

MGAM2 is a putative maltase-glucoamylase family member with divergent structure and function from its paralog MGAM 1. Unlike MGAM, which retains α-1,4-glucosidase activity for intestinal starch digestion, MGAM2 has likely lost glucosidase catalytic activity in placental mammals due to mutations in key catalytic residues 1. Instead, MGAM2 possesses a unique extracellular, threonine-rich, evolutionarily hypervariable (EHV) domain 1, suggesting an altered biological role distinct from carbohydrate hydrolysis. MGAM2 is implicated in glucose metabolism regulation. Genome-wide association studies identified MGAM2 variants associated with 1,5-anhydroglucitol concentrations, a biomarker of hyperglycemic excursions 2. Genetic variation in MGAM2 correlates with dietary carbohydrate restriction efficacy in irritable bowel syndrome patients, particularly the IBS-diarrheal subtype 3. Clinically, MGAM2 expression is nearly exclusive to basal-like breast cancers and associates with improved patient survival, correlating with immune-related gene signatures 1. MGAM2 mutations appear relevant to colorectal cancer pedigrees with concurrent gastric cancer 4 and represent recurrent alterations in ductal carcinoma in situ 5. These findings suggest MGAM2 functions in immune regulation and metabolic pathways affecting carbohydrate handling and cancer progression, warranting further mechanistic investigation.

Sources cited
1
MGAM2 likely lost α-1,4-glucosidase activity in placental mammals and possesses a unique evolutionarily hypervariable domain; associated with basal-like breast cancer expression and immune response genes
PMID: 30996822
2
MGAM2 variants show genome-wide significant associations with 1,5-anhydroglucitol concentrations, a biomarker of glucose metabolism and hyperglycemic excursions
PMID: 28588231
3
MGAM2 genetic variation correlates with efficacy of FODMAP-lowering diet in IBS patients, particularly in IBS-diarrheal subtype
PMID: 39413891
4
MGAM2 mutations identified in ductal carcinoma in situ, potentially impairing cellular responses to radiotherapy-induced stress
PMID: 40629431
5
MGAM2 mutations significantly associated with colorectal cancer pedigrees with concurrent gastric cancer
PMID: 32960359
6
MGAM2 is a poorly characterized maltase-glucoamylase family member highly expressed in small and large intestines, predicted to degrade starch or glycogen
PMID: 26989612
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.57Moderate
diabetes mellitusOpen Targets
0.37Weak
connective tissue diseaseOpen Targets
0.29Weak
Parkinson diseaseOpen Targets
0.27Weak
gallbladder diseaseOpen Targets
0.20Weak
Aganglionic megacolonOpen Targets
0.11Weak
Hirschsprung diseaseOpen Targets
0.11Weak
chronic hepatitis C virus infectionOpen Targets
0.11Weak
dengue diseaseOpen Targets
0.08Suggestive
Barrett's esophagusOpen Targets
0.07Suggestive
esophageal adenocarcinomaOpen Targets
0.06Suggestive
cancerOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
tympanic membrane perforationOpen Targets
0.03Suggestive
tympanic membrane diseaseOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
SepsisOpen Targets
0.02Suggestive
asthmaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets2
CELGOSIVIRPhase II
Alpha glucosidase inhibitor
chronic hepatitis C virus infection
VOGLIBOSEApproved
Alpha glucosidase inhibitor
type 2 diabetes mellitus
Related Genes
ABOShared pathway100%LCTShared pathway100%TPD52L2Shared pathway100%B4GALT3Shared pathway100%B4GALT2Shared pathway100%LANCL2Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
16%
Liver
7%
Ovary
3%
Heart
3%
Brain
0%
Gene Interaction Network
Click a node to explore
MGAM2ABOLCTTPD52L2B4GALT3B4GALT2LANCL2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q2M2H8
View on AlphaFold ↗
RankingsWhere MGAM2 stands among ~20K protein-coding genes
  • #17,651of 20,598
    Most Researched8
  • #1,025of 1,025
    FDA-Approved Drug Targets1
Genes detectedMGAM2
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Proteins with Evolutionarily Hypervariable Domains are Associated with Immune Response and Better Survival of Basal-like Breast Cancer Patients.
PMID: 30996822
Comput Struct Biotechnol J · 2019
1.00
2
Genome-wide association study of 1,5-anhydroglucitol identifies novel genetic loci linked to glucose metabolism.
PMID: 28588231
Sci Rep · 2017
0.88
3
The expression pattern of ACTBL2 in thymoma reveals its potential therapeutic target efficacy.
PMID: 33277874
J BUON · 2020
0.75
4
Functional Variation in Human CAZyme Genes in Relation to the Efficacy of a Carbohydrate-Restricted Diet in IBS Patients.
PMID: 39413891
Clin Gastroenterol Hepatol · 2025
0.63
5
Mutational landscape of pure ductal carcinoma in situ and associations with disease prognosis and response to radiotherapy.
PMID: 40629431
Breast Cancer Res · 2025
0.50