MANEA Gene - Mannosidase Endo-Alpha
Comprehensive gene card for MANEA (mannosidase endo-alpha), including genomic annotations, expression data, and disease associations.
Gene Information Card
| Symbol | MANEA |
|---|---|
| Full Name | Mannosidase Endo-Alpha |
| Gene Type | Protein coding |
| Chromosomal Location | 6q15 |
| NCBI Gene ID | 79694 ncbi.nlm.nih.gov/gene/79694 |
| Ensembl ID | ENSG00000112214 |
| UniProt ID | Q5SRI9 |
| OMIM ID | 612792 |
| HGNC ID | 26072 |
| Aliases | Endo-alpha-mannosidase, MANEA1 |
Description
MANEA encodes an endo-alpha-mannosidase enzyme involved in the processing of N-linked glycoproteins. It cleaves the alpha-1,2-mannose linkages within the Golgi apparatus, playing a role in the maturation of glycoproteins. This gene is essential for proper protein glycosylation and quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation (CDG) type II | Deficient MANEA activity impairs N-glycan trimming, leading to abnormal glycoprotein processing. | ClinVar, OMIM |
| Cancer (various) | Altered MANEA expression may affect tumor cell surface glycosylation and metastasis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Kidney | 6.5 | Medium |
| Brain | 3.1 | Low |
| Heart | 2.8 | Low |
| Testis | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 7.8 | Hepatocellular carcinoma cell line |
| HEK293 | 5.4 | Embryonic kidney cells |
| HeLa | 4.2 | Cervical cancer cells |
| A549 | 3.6 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | p.Met1? – start loss, likely loss of function |
| c.325C>T | Nonsense | <0.01% | p.Arg109* – premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Endo-alpha-mannosidase activity (GO:0004571) | • Golgi apparatus (GO:0005794) |
| • N-glycan processing (GO:0006491) | • Protein glycosylation (GO:0006486) |
Pathways
• N-Glycan biosynthesis (Reactome R-HSA-446203)
• Golgi-to-ER retrograde transport (Reactome R-HSA-6811434)
Protein Summary
MANEA is a type II transmembrane protein localized to the Golgi apparatus. It catalyzes the removal of alpha-1,2-linked mannose residues from oligosaccharides, a key step in the N-glycan maturation pathway. The enzyme is critical for generating complex-type glycans on secreted and membrane-bound proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MANEA Knockout HEK293 Cell Line | EDJ-KQ3224 | Human | 79694 | Details Get a Quote |
| MANEAL Knockout HEK293 Cell Line | EDJ-KQ10989 | Human | 149175 | Details Get a Quote |
| MANEA Knockout A-549 Cell Line | EDJ-KQ24723 | Human | 79694 | Details Get a Quote |
| MANEA Knockout HCT 116 Cell Line | EDJ-KQ24724 | Human | 79694 | Details Get a Quote |
| MANEA Knockout HeLa Cell Line | EDJ-KQ24725 | Human | 79694 | Details Get a Quote |
| MANEAL Knockout HeLa Cell Line | EDJ-KQ37529 | Human | 149175 | Details Get a Quote |
| MANEAL Knockout A-549 Cell Line | EDJ-KQ38827 | Human | 149175 | Details Get a Quote |
| MANEAL Knockout HCT 116 Cell Line | EDJ-KQ38828 | Human | 149175 | Details Get a Quote |
