MAU2 (MAU2 Sister Chromatid Cohesion Factor)
A key regulator of sister chromatid cohesion and genomic stability
Gene Information Card
| Symbol | MAU2 |
|---|---|
| Full Name | MAU2 sister chromatid cohesion factor |
| Gene Type | protein-coding |
| Chromosomal Location | 8p11.23 |
| NCBI Gene ID | 23383 ncbi.nlm.nih.gov/gene/23383 |
| Ensembl ID | ENSG00000104763 |
| UniProt ID | Q9Y6X3 |
| OMIM ID | 614560 |
| HGNC ID | 19892 |
| Aliases | MAU-2, KIAA0892, SCC-4, MAU2L |
Description
MAU2 encodes a protein that forms a heterodimer with NIPBL (SCC2 homolog) to function as the cohesin loading complex. This complex is essential for establishing sister chromatid cohesion during S phase, ensuring proper chromosome segregation and genomic stability. MAU2 is also involved in DNA repair and transcriptional regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cornelia de Lange syndrome (CdLS) | MAU2 mutations impair cohesin loading, leading to developmental defects | PMID: 25533962; ClinVar |
| Colorectal cancer | Reduced MAU2 expression correlates with chromosomal instability | PMID: 23943788; COSMIC |
| Breast cancer | MAU2 overexpression linked to poor prognosis and aneuploidy | PMID: 26980704; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Brain | 6.2 | Low |
| Liver | 4.1 | Low |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical adenocarcinoma |
| K562 | 11.0 | Chronic myeloid leukemia |
| HEK293 | 9.7 | Embryonic kidney |
| HepG2 | 7.2 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.203C>T (p.Pro68Leu) | Missense | <0.1% | Impaired NIPBL binding; reduced cohesin loading |
| c.487_489del (p.Lys163del) | In-frame deletion | <0.1% | Loss of function; associated with CdLS |
| c.1000C>T (p.Arg334*) | Nonsense | <0.1% | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most MAU2 mutations in CdLS are loss-of-function, reducing cohesin loading efficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some missense variants may act dominant-negative by sequestering NIPBL.
View complete mutation data：
Gene Ontology (GO)
| • sister chromatid cohesion (GO:0007062) | • zinc ion binding (GO:0008270) |
| • establishment of mitotic sister chromatid cohesion (GO:0034087) | • nucleus (GO:0005634) |
| • chromatin (GO:0000785) |
Pathways
• Cohesin loading complex (SCC2/SCC4) - Reactome R-HSA-2470946
• Cell cycle
• mitotic - Reactome R-HSA-69278
• Chromosome maintenance - KEGG hsa04110
Protein Summary
MAU2 (also known as SCC4) is a 70 kDa nuclear protein that contains a zinc finger domain. It directly binds NIPBL (SCC2) to form the cohesin loading complex, which deposits the cohesin ring onto chromatin. MAU2 is essential for sister chromatid cohesion, DNA repair, and gene regulation. Mutations cause Cornelia de Lange syndrome and are implicated in cancer.
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