MORF4L2

Chr X

mortality factor 4 like 2

Also known as: MORFL2, MRGX

The protein is a component of the NuA4 histone acetyltransferase complex that regulates gene transcription through chromatin modification and participates in DNA double-strand break repair via homologous recombination. Mutations cause autosomal dominant neurodevelopmental disorder with variable intellectual disability, behavioral abnormalities, and dysmorphic features. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

Summary from RefSeq, UniProt
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0
Active trials
5
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.54
LOEUF
LOF
Mechanism· predicted
Clinical SummaryMORF4L2
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.81) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.54LOEUF
pLI 0.811
Z-score 2.17
OE 0.00 (0.000.54)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.76Z-score
OE missense 0.52 (0.420.65)
56 obs / 107.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.000.54)
00.351.4
Missense OE0.52 (0.420.65)
00.61.4
Synonymous OE0.86
01.21.6
LoF obs/exp: 0 / 5.5Missense obs/exp: 56 / 107.5Syn Z: 0.70
DN
0.3296th %ile
GOF
0.2099th %ile
LOF
0.73top 10%

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

LOFprediction above median

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MORF4L2 · 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

No active trials found for this gene.

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Clinical Literature
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