MAU2

Chr 19

MAU2 sister chromatid cohesion factor

Also known as: KIAA0892, MAU2L, SCC4, mau-2

NCBI Gene: 23383ENSG00000129933UniProt: Q9Y6X3

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]

66
ClinVar variants
19
Pathogenic / LP
1.00
pLI score· haploinsufficient
0
Active trials
Clinical Summary— MAU2
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
19 Pathogenic / Likely Pathogenic· 45 VUS of 66 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.12LOEUF
pLI 1.000
Z-score 5.70
OE 0.03 (0.01–0.12)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
4.03Z-score
OE missense 0.41 (0.36–0.47)
150 obs / 367.7 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.03 (0.01–0.12)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.41 (0.36–0.47)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.15
0≤1.21.6
LoF obs/exp: 1 / 39.8Missense obs/exp: 150 / 367.7Syn Z: -1.48

ClinVar Variant Classifications

66 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic9
VUS45
Likely Benign1
Benign1
10
Pathogenic
9
Likely Pathogenic
45
VUS
1
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
9
0
10
Likely Pathogenic
2
3
4
0
9
VUS
2
38
5
0
45
Likely Benign
0
1
0
0
1
Benign
0
0
1
0
1
Total44319066

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MAU2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

MAU2-related neurodevelopmental disorder

limited
ADLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
📖
GeneReview available — MAU2
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Cornelia de Lange Spectrum.
Ascaso Á et al.·An Pediatr (Engl Ed)
2024
Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy.
Peng Y et al.·Mol Genet Genomic Med
2024
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.
Parenti I et al.·Cell Rep
2020
Molecular Diversity of Embryonic-Type Neuroectodermal Tumors Arising From Testicular Germ Cell Tumors.
Zong Y et al.·Mod Pathol
2025
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Braunholz D et al.·Eur J Hum Genet
2012
Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations.
Temprano-Sagrera G et al.·J Thromb Haemost
2022
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.
Rieger M et al.·Eur J Med Genet
2023Case report
Transcriptome-Wide Association Study of Metabolic Dysfunction-Associated Steatotic Liver Disease Identifies Relevant Gene Signatures.
Wang J et al.·Turk J Gastroenterol
2024
Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways.
Schierding W et al.·J Med Genet
2021Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools