MAU2
protein-codingMAU2 sister chromatid cohesion factor
Gene summary
Enables cohesin loader activity. Involved in maintenance of mitotic sister chromatid cohesion. Located in chromatin and nuclear body. Part of Scc2-Scc4 cohesin loading complex. [provided by Alliance of Genome Resources, Jul 2025]
- KIAA0892
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~37.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AD
Disease ID:MONDO:0700092
Submitter: G2P
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MAU2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_015329.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 4 | 4 | ||||
| missense | 1 | 3 | 41 | 1 | 46 | |
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 2 | 2 | 4 | |||
| splice donor/acceptor (+/-2bp) | 5 | 5 | ||||
| Total | 1 | 6 | 48 | 5 | 0 | 60 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_056144.3 | 19 | MANE Select | |
| Ensembl | ENSP00000262815.9 | 19 | MANE Select | |
| Ensembl | ENSP00000477436.1 | 8 | Standard | |
| Ensembl | ENSP00000477034.1 | 6 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Cohesin Loading onto Chromatin
- Mitotic Telophase/Cytokinesis
- M Phase
- Cell Cycle
- Cell Cycle, Mitotic
Biological Process
- maintenance of mitotic sister chromatid cohesion
- cell division
- cohesin loading
Molecular Function
- double-stranded DNA binding
- protein binding
- protein N-terminus binding
Cellular Component
- chromatin
- nucleus
- nucleoplasm
- nuclear body
- SMC loading complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000392313
- Coding exons
- 19
- Length
- 38074
- Individuals with no LoFs
- 124740
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 1
- Defined
- 124741
- p
- 0.00000401
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 4.03 | 150 | 368 | 0.408 | 0.0000218 | 3982 |
| Missense (PolyPhen) | 18 | 128.8 | 0.13975 | 1412 | ||
| Synonymous | -1.48 | 186 | 162 | 1.15 | 0.0000104 | 1190 |
| Loss of Function | 5.70 | 1 | 39.8 | 0.0251 | 0.00000196 | 414 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with NIPBL/SCC2 which mediates the loading of the cohesin complex onto chromatin (PubMed:28167679, PubMed:22628566). Plays a role in sister chromatid cohesion and normal progression through prometaphase (PubMed:16802858, PubMed:16682347). {ECO:0000269|PubMed:16682347, ECO:0000269|PubMed:16802858, ECO:0000269|PubMed:22628566, ECO:0000269|PubMed:28167679}.;
Intolerance Scores
- RVIS EVS
- -0.76
- RVIS percentile EVS
- 13.33
Essentials
- Essential (CRISPR)
- E
- Essential (CRISPR2)
- E
- Essential (gene trap)
- E
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |