MAL2 Gene - MAL2 Proteolipid
MAL2: A key regulator of apical transport in epithelial cells and its role in cancer
Gene Information Card
| Symbol | MAL2 |
|---|---|
| Full Name | mal, T-cell differentiation protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q24.12 |
| NCBI Gene ID | 114569 ncbi.nlm.nih.gov/gene/114569 |
| Ensembl ID | ENSG00000147676 |
| UniProt ID | Q969L2 |
| OMIM ID | 609684 |
| HGNC ID | 29657 |
| Aliases | MAL2, MALT2, MGC10744 |
Description
MAL2 (mal, T-cell differentiation protein 2) encodes a four-transmembrane proteolipid that is essential for the apical transport pathway in polarized epithelial cells. It is involved in the transcytosis of membrane proteins from the basolateral to the apical surface. MAL2 is also implicated in cancer progression, particularly in breast, colorectal, and pancreatic cancers, where its overexpression correlates with poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of MAL2 promotes tumor cell migration and invasion via altered apical trafficking | PMID: 22926525; COSMIC |
| Colorectal Cancer | MAL2 upregulation is associated with epithelial-mesenchymal transition and metastasis | PMID: 27323851; COSMIC |
| Pancreatic Cancer | MAL2 expression is elevated and linked to poor survival; may regulate cell polarity | PMID: 29056340; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Low |
| Small Intestine | 15.2 | Medium |
| Pancreas | 6.1 | Low |
| Breast | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 14.2 | High expression |
| Caco-2 (colorectal) | 11.5 | Medium expression |
| PANC-1 (pancreatic) | 7.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.1% | Unknown; rare variant in COSMIC |
| c.341G>A (p.Arg114His) | Missense | <0.1% | Unknown; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role, but no specific activating mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • protein transport (GO:0015031) | • apical part of cell (GO:0045177) |
| • plasma membrane (GO:0005886) | • basolateral plasma membrane (GO:0016323) |
| • apical plasma membrane (GO:0016324) |
Pathways
• Transcytosis (Reactome: R-HSA-432722)
• Apical junction complex (KEGG: hsa04530)
Protein Summary
MAL2 is a 176-amino-acid four-transmembrane proteolipid localized to the plasma membrane and endocytic compartments. It functions as a key component of the apical transport machinery, facilitating the transcytosis of cargo proteins from the basolateral to the apical surface in polarized epithelial cells. Its overexpression in various cancers suggests a role in tumor progression and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAL2 Knockout HEK293 Cell Line | EDC90519 | Human | 114569 | Details Get a Quote |
| MAL2 Knockout HCT 116 Cell Line | EDJ-KQ32657 | Human | 114569 | Details Get a Quote |
| MAL2 Knockout HeLa Cell Line | EDJ-KQ32658 | Human | 114569 | Details Get a Quote |
| MAL2 Knockout A-549 Cell Line | EDC90524 | Human | 114569 | Details Get a Quote |
