MAN2A2
Mannosidase Alpha Class 2A Member 2
Gene Information Card
| Symbol | MAN2A2 |
|---|---|
| Full Name | Mannosidase Alpha Class 2A Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 4122 ncbi.nlm.nih.gov/gene/4122 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q496Y0 |
| OMIM ID | 604620 |
| HGNC ID | 6825 |
| Aliases | MANA2X, alpha-mannosidase IIx, Golgi alpha-mannosidase IIx |
Description
MAN2A2 encodes Golgi alpha-mannosidase IIx, an enzyme that removes mannose residues from N-glycans during glycoprotein processing. It is essential for the maturation of complex N-glycans and is expressed in various tissues, with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation (CDG) type II | Deficient MAN2A2 activity impairs N-glycan processing, leading to abnormal glycosylation. | PMID: 31006510 |
| Colorectal cancer | Altered MAN2A2 expression may affect cell surface glycosylation and tumor progression. | PMID: 25691885 |
| Hepatocellular carcinoma | Upregulation of MAN2A2 correlates with poor prognosis and altered N-glycan profiles. | PMID: 29669786 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 15.2 | Medium |
| Liver | 8.3 | Low |
| Colon | 6.7 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cells |
| HepG2 | 7.2 | Hepatocellular carcinoma cells |
| HT-29 | 6.5 | Colorectal adenocarcinoma cells |
| SH-SY5Y | 11.3 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Reduced enzymatic activity; associated with CDG type II |
| c.1582G>A (p.Gly528Arg) | Missense | Rare | Impaired Golgi localization and catalytic function |
| c.1972_1973del (p.Leu658fs) | Frameshift | Very rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish enzymatic activity, leading to abnormal N-glycan processing.
Gain of Function (GOF)
Not reported for MAN2A2.
Dominant Negative (DN)
Not reported for MAN2A2.
View complete mutation data：
Gene Ontology (GO)
| • alpha-mannosidase activity | • Golgi apparatus |
| • N-glycan processing | • carbohydrate metabolic process |
| • mannose trimming |
Pathways
• N-Glycan biosynthesis (KEGG: hsa00510)
• Protein glycosylation in the Golgi (Reactome: R-HSA-975578)
Protein Summary
MAN2A2 encodes a Golgi-resident type II transmembrane protein with alpha-mannosidase activity. It catalyzes the removal of alpha-1,3- and alpha-1,6-linked mannose residues from GlcNAcMan5GlcNAc2 to produce GlcNAcMan3GlcNAc2, a key step in the synthesis of complex N-glycans. The enzyme is essential for normal glycoprotein function and its deficiency leads to congenital disorders of glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAN2A2 Knockout HEK293 Cell Line | EDJ-KQ5167 | Human | 4122 | Details Get a Quote |
| MAN2A2 Knockout HCT 116 Cell Line | EDJ-KQ28145 | Human | 4122 | Details Get a Quote |
| MAN2A2 Knockout HeLa Cell Line | EDJ-KQ28146 | Human | 4122 | Details Get a Quote |
| MAN2A2 Knockout A-549 Cell Line | EDJ-KQ26914 | Human | 4122 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
