ENGASE Gene
Endo-beta-N-acetylglucosaminidase
Gene Information Card
| Symbol | ENGASE |
|---|---|
| Full Name | Endo-beta-N-acetylglucosaminidase |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 64772 ncbi.nlm.nih.gov/gene/64772 |
| Ensembl ID | ENSG00000167286 |
| UniProt ID | Q8NHP8 |
| OMIM ID | 608981 |
| HGNC ID | 29606 |
| Aliases | ENGase, hENGase, FLJ21657, MGC138290 |
Description
The ENGASE gene encodes endo-beta-N-acetylglucosaminidase, an enzyme that cleaves the chitobiose core of N-glycans, releasing free N-glycans from glycoproteins. It is involved in the catabolism of N-linked oligosaccharides and plays a role in the regulation of glycoprotein turnover and quality control in the endoplasmic reticulum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation (CDG) type II | Deficient ENGASE activity impairs N-glycan processing, leading to abnormal glycoprotein synthesis | ClinVar: pathogenic variants reported |
| Cancer (various types) | Altered ENGASE expression may affect tumor cell surface glycosylation and metastasis | COSMIC: somatic mutations observed in colorectal, lung, and breast cancers |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 10.5 | Medium expression |
| HepG2 | 11.8 | Medium expression |
| A549 | 8.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Loss of function; associated with CDG type II |
| c.682G>A (p.Gly228Arg) | Missense | <0.01% | Reduced enzymatic activity |
| c.1234_1235insA (p.Thr412Asnfs*5) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, reducing N-glycan cleavage activity.
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)
| • hydrolase activity (GO:0004553) | • extracellular region (GO:0005576) |
| • endoplasmic reticulum (GO:0005783) | • protein deglycosylation (GO:0006517) |
| • hydrolase activity (GO:0016798) |
Pathways
• N-glycan degradation (Reactome: R-HSA-6798695)
• Asparagine N-linked glycosylation (Reactome: R-HSA-446203)
Protein Summary
Endo-beta-N-acetylglucosaminidase (ENGase) is a 75 kDa enzyme localized to the endoplasmic reticulum and extracellular space. It catalyzes the hydrolysis of the N,N'-diacetylchitobiose linkage in high-mannose and hybrid N-glycans, releasing free oligosaccharides. The enzyme is critical for glycoprotein quality control and recycling of N-glycans. Mutations in ENGASE are linked to congenital disorders of glycosylation and have been implicated in cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENGASE Knockout HEK293 Cell Line | EDJ-KQ12506 | Human | 64772 | Details Get a Quote |
| ENGASE Knockout A-549 Cell Line | EDJ-KQ42714 | Human | 64772 | Details Get a Quote |
| ENGASE Knockout HCT 116 Cell Line | EDJ-KQ42716 | Human | 64772 | Details Get a Quote |
| ENGASE Knockout HeLa Cell Line | EDJ-KQ42717 | Human | 64772 | Details Get a Quote |
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