SMYD4

Chr 17

SET and MYND domain containing 4

Also known as: ZMYND21

The SMYD4 protein is a lysine methyltransferase that regulates gene expression during cardiac development by methylating target proteins and modulating histone deacetylase activity. Mutations cause autosomal recessive developmental disorders primarily affecting the heart. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.08
Clinical SummarySMYD4
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.08LOEUF
pLI 0.000
Z-score 1.21
OE 0.78 (0.571.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.01Z-score
OE missense 1.00 (0.931.08)
462 obs / 461.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.78 (0.571.08)
00.351.4
Missense OE1.00 (0.931.08)
00.61.4
Synonymous OE0.98
01.21.6
LoF obs/exp: 26 / 33.5Missense obs/exp: 462 / 461.5Syn Z: 0.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SMYD4 · 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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