MAD2L1
Mitotic Arrest Deficient 2 Like 1
Gene Information Card
| Symbol | MAD2L1 |
|---|---|
| Full Name | Mitotic Arrest Deficient 2 Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q27 |
| NCBI Gene ID | 4085 ncbi.nlm.nih.gov/gene/4085 |
| Ensembl ID | ENSG00000164109 |
| UniProt ID | Q13257 |
| OMIM ID | 601467 |
| HGNC ID | 6763 |
| Aliases | MAD2, HSMAD2 |
Description
MAD2L1 encodes a component of the mitotic spindle assembly checkpoint that prevents anaphase onset until all chromosomes are properly attached to the spindle. It is essential for accurate chromosome segregation and genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression leads to checkpoint hyperactivation and aneuploidy | PMID: 15616553 |
| Breast cancer | MAD2L1 upregulation correlates with poor prognosis and chromosomal instability | PMID: 20826722 |
| Lung cancer | Altered expression contributes to mitotic defects and tumor progression | PMID: 23334667 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 18.2 | Medium |
| Lymph node | 15.7 | Medium |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.1 | Cervical cancer cell line |
| MCF7 | 19.8 | Breast cancer cell line |
| A549 | 16.4 | Lung cancer cell line |
| K562 | 14.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.205C>T (p.Arg69Trp) | Missense | <0.1% | Unknown functional impact |
| c.334G>A (p.Gly112Ser) | Missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; rare missense variants may reduce checkpoint function.
Gain of Function (GOF)
Overexpression is common in cancers and may confer a gain-of-function phenotype.
Dominant Negative (DN)
No dominant-negative mutations reported in COSMIC or ClinVar.
View complete mutation data：
Gene Ontology (GO)
| • mitotic spindle assembly checkpoint | • protein binding |
| • kinetochore | • cell cycle |
| • nucleus |
Pathways
• Cell Cycle
• Mitotic
• Spindle Assembly Checkpoint
Protein Summary
MAD2L1 is a 205-amino-acid protein that forms a complex with MAD1L1 and other checkpoint proteins. It localizes to unattached kinetochores and inhibits the anaphase-promoting complex/cyclosome (APC/C) until all chromosomes are bioriented.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAD2L1BP Knockout HEK293 Cell Line | EDJ-KQ5991 | Human | 9587 | Details Get a Quote |
| MAD2L1BP Knockout A-549 Cell Line | EDJ-KQ30930 | Human | 9587 | Details Get a Quote |
| MAD2L1BP Knockout HCT 116 Cell Line | EDJ-KQ30932 | Human | 9587 | Details Get a Quote |
| MAD2L1BP Knockout HeLa Cell Line | EDJ-KQ30933 | Human | 9587 | Details Get a Quote |
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