MAD2L2 Gene Summary [Human]
The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MAD2L2 |
| Official Name | mitotic arrest deficient 2 like 2 [Source:HGNC Symbol;Acc:HGNC:6764] |
| Ensembl ID | ENSG00000116670 |
| Bio databases IDs | |
| Aliases | mitotic arrest deficient 2 like 2, mitotic arrest deficient homolog-like 2, polymerase (DNA-directed), zeta 2, accessory subunit |
| Synonyms | 2310033C13RIK, FANCV, G1-453-4, MAD2B, MAD2 mitotic arrest deficient-like 2, mitotic arrest deficient 2 like 2, POLZ2, repro22, REV7 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MAD2L2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription co-repressor
- transcription factor binding
- JUN kinase binding
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- proteinuria
- kidney injury
- atopic dermatitis
- Fanconi anemia group V
- glioblastoma
- glioblastoma cancer
- growth failure
- hyperplasia
- doxorubicin-induced focal segmental glomerular sclerosis
- end stage renal disease
role in cell
- expression in
- migration
- number
- phosphorylation in
- apoptosis
- proliferation
- formation
- morphology
- formation in
- growth
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- spindle apparatus
- Cytoplasm
- nucleoplasm
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAD2L2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitotic cell cycle spindle assembly checkpoint
- negative regulation of double-strand break repair via homologous recombination
- positive regulation of isotype switching
- error-prone translesion synthesis
- actin filament organization
- negative regulation of protein catabolic process
- DNA damage response, signal transduction resulting in transcription
- negative regulation of sequence-specific DNA binding transcription factor activity
- telomere maintenance in response to DNA damage
- double-strand break repair
- negative regulation of transcription from RNA polymerase II promoter
- cell division
- positive regulation of epithelial to mesenchymal transition
- negative regulation of canonical Wnt receptor signaling pathway
- negative regulation of epithelial to mesenchymal transition
- negative regulation of transcription by competitive promoter binding
- regulation of cell growth
- positive regulation of transcription, DNA-dependent
- somatic diversification of immunoglobulins involved in immune response
- negative regulation of transcription regulatory region DNA binding
- positive regulation of double-strand break repair via nonhomologous end joining
- positive regulation of peptidyl-serine phosphorylation
- negative regulation of cell-cell adhesion mediated by cadherin
Cellular Component
Where in the cell the gene product is active
- nucleus
- site of double-strand break
- cytoplasm
- anaphase-promoting complex
- spindle
- chromosome
- zeta DNA polymerase complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- JUN kinase binding