MYEF2

Chr 15

myelin expression factor 2

Also known as: HsT18564, MEF-2, MST156, MSTP156, myEF-2

NCBI Gene: 50804 ENSG00000104177 UniProt: Q9P2K5 OMIM: 619395

Enables RNA binding activity. Involved in myotube differentiation and neuron differentiation. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Enables RNA binding activity. Involved in myotube differentiation and neuron differentiation. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.39

LOEUF

LOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.39LOEUF

pLI 0.635

Z-score 4.28

OE 0.21 (0.12–0.39)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.53Z-score

OE missense 0.77 (0.69–0.85)

258 obs / 336.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.21 (0.12–0.39)

0≤0.351.4

Missense OE?0.77 (0.69–0.85)

0≤0.61.4

Synonymous OE?0.63

0≤1.21.6

LoF obs/exp: 7 / 33.9Missense obs/exp: 258 / 336.8Syn Z: 2.97

Background carrier burden — how many people carry a rare variant somewhere in MYEF2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 92

674 rare PASS variants

Rare truncating (LoF)

1 in 4,800

77 rare PASS variants

Rare synonymous (reference)

1 in 310

211 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MYEF2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 130	1 in 4,800
South Asian	~43k	1 in 130	1 in 500
Remaining (unassigned)	~30k	1 in 110	1 in 5,900
European (Finnish)	~27k	1 in 270	1 in 1,400
Admixed American	~22k	1 in 96	1 in 2,700
African / African American	~21k	1 in 97	1 in 500
East Asian	~20k	1 in 150	≈ 1 in 19,000
Ashkenazi Jewish	~13k	1 in 620	none seen
Middle Eastern	~2,884	1 in 100	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 15 of 17 coding exons well covered in gnomAD exomes; exons 4, 5 marginal. Genomes: all 17.? see exons ↓