METTL22

Chr 16

methyltransferase 22, Kin17 lysine

Also known as: C16orf68

NCBI Gene: 79091ENSG00000067365UniProt: Q9BUU2

This gene encodes a member of the non-histone lysine methyltransferases. It interacts with its substrate, Kin17, which is involved in DNA repair and replication and mRNA processing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.35
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.35LOEUF
pLI 0.000
Z-score 0.26
OE 0.94 (0.67–1.35)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.98Z-score
OE missense 1.36 (1.24–1.49)
331 obs / 243.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.94 (0.67–1.35)
0≤0.351.4
Missense OE?1.36 (1.24–1.49)
0≤0.61.4
Synonymous OE?1.14
0≤1.21.6
LoF obs/exp: 21 / 22.3Missense obs/exp: 331 / 243.8Syn Z: -1.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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