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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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POMGNT2
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Chromosome 3 Β· 3p22.1
NCBI Gene: 84892Ensembl: ENSG00000144647.8HGNC: HGNC:25902UniProt: Q8NAT1
27PubMed Papers
22Diseases
0Drugs
29Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingacetylglucosaminyltransferase activityprotein O-acetylglucosaminyltransferase activityprotein O-linked glycosylationmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8muscular dystrophy-dystroglycanopathy, type Alimb-girdle muscular dystrophy
✦AI Summary

POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2) is a glycosyltransferase enzyme that catalyzes the transfer of UDP-N-acetyl-D-glucosamine to the 4-position of O-mannose residues, generating the core M3-type O-mannosyl glycan structure essential for Ξ±-dystroglycan function 1. This enzyme localizes to the endoplasmic reticulum and displays significant amino-acid selectivity, recognizing specific TPT motif sequences through its N-terminal catalytic domain while its C-terminal fibronectin type III domain stabilizes peptide binding 12. The functional glycosylation catalyzed by POMGNT2 is critical for Ξ±-dystroglycan's high-affinity binding to laminin G-like domain-containing extracellular matrix proteins, thereby maintaining tissue integrity and neuromuscular stability 1. Loss-of-function mutations in POMGNT2 disrupt this post-translational modification pathway, causing Ξ±-dystroglycanopathy, a group of congenital muscular dystrophies presenting with variable phenotypes ranging from severe Walker-Warburg syndrome with brain and eye anomalies to limb-girdle forms 34. Crystal structure analysis has elucidated molecular bases for disease-associated mutations and provided mechanistic insights into POMGNT2's substrate recognition 3. Additionally, reduced POMGNT2 expression has been documented in various human cancers, suggesting potential involvement in cancer pathogenesis 56.

Sources cited
1
POMGNT2 mechanism: adds Ξ²1,4-linked GlcNAc to O-mannose, recognizes TPT motif through catalytic domain and C-terminal FnIII domain, essential for core M3-type glycan formation on Ξ±-DG
PMID: 33893702
2
POMGNT2 localization: endoplasmic reticulum; first enzyme in the sequential O-glycan modification pathway of dystroglycan
PMID: 40324206
3
POMGNT2 crystal structures reveal enzyme fold and domain organization; explains loss-of-function mutations in dystroglycanopathies including Walker-Warburg syndrome and limb girdle muscular dystrophy
PMID: 33825709
4
POMGNT2 mutations cause muscular dystrophy-dystroglycanopathy with variable phenotypes including cortical malformations and myopatic symptoms
PMID: 34301702
5
POMGNT2 downregulation occurs in multiple human tumors; deficient matriglycan structure affects cancer pathogenesis
PMID: 36494657
6
POMGNT2-type O-mannosylation pathway identified as drug-responsive glycopathway in liver cancer cells
PMID: 38656600
Disease Associationsβ“˜22
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8Open Targets
0.80Strong
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8Open Targets
0.67Moderate
muscular dystrophy-dystroglycanopathy, type AOpen Targets
0.46Moderate
limb-girdle muscular dystrophyOpen Targets
0.37Weak
myopathy caused by variation in POMGNT2Open Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
ankylosing spondylitisOpen Targets
0.31Weak
Severe hydrocephalusOpen Targets
0.26Weak
placenta praeviaOpen Targets
0.19Weak
ovarian neoplasmOpen Targets
0.18Weak
response to antihypertensive drugOpen Targets
0.09Suggestive
spondylolisthesisOpen Targets
0.08Suggestive
ovarian dysfunctionOpen Targets
0.06Suggestive
cleft palateOpen Targets
0.03Suggestive
insomniaOpen Targets
0.03Suggestive
HypercholesterolemiaOpen Targets
0.03Suggestive
neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycanOpen Targets
0.02Suggestive
depressive disorderOpen Targets
0.02Suggestive
male infertilityOpen Targets
0.02Suggestive
substance abuseOpen Targets
0.02Suggestive
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8UniProt
Muscular dystrophy-dystroglycanopathy limb-girdle C8UniProt
Pathogenic Variants29
NM_032806.6(POMGNT2):c.1232del (p.Gln411fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 411
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8|Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
β˜…β˜…β˜†β˜†2024β†’ Residue 253
NM_032806.6(POMGNT2):c.1232_1233del (p.Gln411fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜…β˜†β˜†2024β†’ Residue 411
NM_032806.6(POMGNT2):c.1258del (p.Ala420fs)Pathogenic
not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜…β˜†β˜†2022β†’ Residue 420
NM_032806.6(POMGNT2):c.1042C>T (p.Gln348Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜†β˜†β˜†2025β†’ Residue 348
NM_032806.6(POMGNT2):c.248G>A (p.Trp83Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜†β˜†β˜†2025β†’ Residue 83
NM_032806.6(POMGNT2):c.1555G>T (p.Glu519Ter)Likely pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜†β˜†β˜†2025β†’ Residue 519
NM_032806.6(POMGNT2):c.509del (p.Asp170fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜†β˜†β˜†2025β†’ Residue 170
NM_032806.6(POMGNT2):c.1333C>T (p.Arg445Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜†β˜†β˜†2025β†’ Residue 445
NM_032806.6(POMGNT2):c.1216G>T (p.Glu406Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 406
NM_032806.6(POMGNT2):c.740_741del (p.Phe247fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜†β˜†β˜†2025β†’ Residue 247
NM_032806.6(POMGNT2):c.851del (p.Leu284fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜†β˜†β˜†2025β†’ Residue 284
NM_032806.6(POMGNT2):c.1170T>G (p.Tyr390Ter)Likely pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜†β˜†β˜†2023β†’ Residue 390
NM_032806.6(POMGNT2):c.118C>T (p.Arg40Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜†β˜†β˜†2023β†’ Residue 40
NM_032806.6(POMGNT2):c.1264C>T (p.Gln422Ter)Likely pathogenic
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜†β˜†β˜†2023β†’ Residue 422
NM_032806.6(POMGNT2):c.410_411delinsG (p.Ala137fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜†β˜†β˜†2022β†’ Residue 137
NM_032806.6(POMGNT2):c.1234G>A (p.Gly412Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 412
NM_032806.6(POMGNT2):c.1510del (p.Val504fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜†β˜†β˜†2022β†’ Residue 504
NM_032806.6(POMGNT2):c.1000_1003del (p.Leu334fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜†β˜†β˜†2022β†’ Residue 334
NM_032806.6(POMGNT2):c.40del (p.Val14fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
β˜…β˜†β˜†β˜†2022β†’ Residue 14
View on ClinVar β†—
Related Genes
DAG1Protein interaction86%DPM1Protein interaction86%DPM2Protein interaction86%DOLKProtein interaction86%GMPPBProtein interaction86%DPM3Protein interaction86%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
92%
Heart
70%
Brain
61%
Lung
34%
Liver
33%
Gene Interaction Network
Click a node to explore
POMGNT2DAG1DPM1DPM2DOLKGMPPBDPM3
PROTEIN STRUCTURE
Preparing viewer…
PDB6XFI Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.28LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.92 [0.67–1.28]
RankingsWhere POMGNT2 stands among ~20K protein-coding genes
  • #12,647of 20,598
    Most Researched27
  • #1,857of 5,498
    Most Pathogenic Variants29
  • #13,478of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedPOMGNT2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
PMID: 35302338
Eur J Transl Myol Β· 2022
0.90
3
Crystal structures of Ξ²-1,4-N-acetylglucosaminyltransferase 2: structural basis for inherited muscular dystrophies.
PMID: 33825709
Acta Crystallogr D Struct Biol Β· 2021
0.80
4
Systematic and comprehensive analysis of major localizations of alpha-dystroglycan-specific modifying enzymes.
PMID: 40324206
Glycobiology Β· 2025
0.70
5
New phenotype caused by POMGNT2 mutations.
PMID: 34301702
BMJ Case Rep Β· 2021
0.60