POMGNT2
Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-)
Gene Information Card
| Symbol | POMGNT2 |
|---|---|
| Full Name | Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-) |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.1 |
| NCBI Gene ID | 84892 ncbi.nlm.nih.gov/gene/84892 |
| Ensembl ID | ENSG00000144747 |
| UniProt ID | Q8NAT1 |
| OMIM ID | 614828 |
| HGNC ID | 25902 |
| Aliases | GTDC2, MDDGA8, MDDGC8, MDDGB8 |
Description
POMGNT2 encodes a glycosyltransferase that catalyzes the transfer of N-acetylglucosamine to O-linked mannose residues on alpha-dystroglycan, a critical step in the synthesis of functional dystroglycan. Mutations in this gene cause congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (types A8, B8, C8).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A8 | Loss-of-function mutations impair O-mannosylation of alpha-dystroglycan, disrupting the dystrophin-glycoprotein complex | OMIM #614830 |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B8 | Biallelic missense/nonsense variants reduce enzyme activity, leading to hypoglycosylation | OMIM #614830 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle) type C8 | Milder missense mutations cause partial loss of glycosyltransferase function | OMIM #614830 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Skeletal Muscle | 5.1 | Low |
| Kidney | 4.8 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.1 | Embryonic kidney cells |
| SH-SY5Y | 6.3 | Neuroblastoma cells |
| HeLa | 5.4 | Cervical carcinoma cells |
| HepG2 | 4.0 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.133C>T (p.Arg45*) | Nonsense | <0.1% | Premature stop, loss of function |
| c.266G>A (p.Arg89His) | Missense | <0.1% | Reduced enzymatic activity |
| c.955C>T (p.Arg319Trp) | Missense | <0.1% | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg45*) lead to truncated, non-functional protein, causing severe dystroglycanopathy type A8.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• O-mannosyl glycan biosynthesis (Reactome R-HSA-5173105)
• Dystroglycan-related disorders (KEGG hsa05310)
Protein Summary
POMGNT2 is a 660-amino acid type II transmembrane protein localized to the Golgi apparatus. It functions as a beta-1,4-N-acetylglucosaminyltransferase, adding GlcNAc to O-mannose on alpha-dystroglycan. This modification is essential for the binding of extracellular matrix proteins such as laminin. Defects in POMGNT2 lead to hypoglycosylation of alpha-dystroglycan, resulting in a spectrum of congenital muscular dystrophies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POMGNT2 Knockout HEK293 Cell Line | EDJ-KQ10249 | Human | 84892 | Details Get a Quote |
| POMGNT2 Knockout A-549 Cell Line | EDJ-KQ37455 | Human | 84892 | Details Get a Quote |
| POMGNT2 Knockout HCT 116 Cell Line | EDJ-KQ37456 | Human | 84892 | Details Get a Quote |
| POMGNT2 Knockout HeLa Cell Line | EDJ-KQ37457 | Human | 84892 | Details Get a Quote |
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