METTL22

Chr 16

methyltransferase 22, Kin17 lysine

Also known as: C16orf68

The protein is a lysine methyltransferase that trimethylates the DNA repair and replication protein KIN17 at lysine-135. Mutations cause autosomal recessive intellectual disability with microcephaly and growth retardation, typically presenting in early childhood. The gene shows minimal constraint against loss-of-function variants in the general population.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.35
Clinical SummaryMETTL22
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
1.35LOEUF
pLI 0.000
Z-score 0.26
OE 0.94 (0.671.35)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-1.98Z-score
OE missense 1.36 (1.241.49)
331 obs / 243.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.94 (0.671.35)
00.351.4
Missense OE1.36 (1.241.49)
00.61.4
Synonymous OE1.14
01.21.6
LoF obs/exp: 21 / 22.3Missense obs/exp: 331 / 243.8Syn Z: -1.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

METTL22 · 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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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC