MRGBP

Chr 20

MRG domain binding protein

Also known as: C20orf20, Eaf7, MRG15BP, URCC4

NCBI Gene: 55257ENSG00000101189UniProt: Q9NV56

The protein is a component of the NuA4 histone acetyltransferase complex that acetylates histones H4 and H2A to regulate transcriptional activation and plays a role in DNA double-strand break repair via homologous recombination. Mutations cause autosomal dominant neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed puberty. This gene is highly constrained against loss-of-function variants (pLI=0.93), consistent with its essential cellular functions.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
1
Pubs (1 yr)
30
P/LP submissions
0%
P/LP missense
0.35
LOEUF
LOF
Mechanism· predicted
Clinical Summary— MRGBP
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.93). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
30 unique Pathogenic / Likely Pathogenic· 32 VUS of 67 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.35LOEUF
pLI 0.931
Z-score 2.71
OE 0.00 (0.00–0.35)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.24Z-score
OE missense 0.41 (0.32–0.52)
46 obs / 113.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.00 (0.00–0.35)
0≤0.351.4
Missense OE0.41 (0.32–0.52)
0≤0.61.4
Synonymous OE0.94
0≤1.21.6
LoF obs/exp: 0 / 8.5Missense obs/exp: 46 / 113.2Syn Z: 0.31
DN
0.2698th %ile
GOF
0.3292th %ile
LOF
0.83top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.35

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

67 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic24
Likely Pathogenic6
VUS32
Likely Benign1
24
Pathogenic
6
Likely Pathogenic
32
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
24
0
24
Likely Pathogenic
0
0
6
0
6
VUS
0
19
13
0
32
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total02043063

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

View in ClinVar →

Protein Context — Lollipop Plot

MRGBP · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients