KMT2E

Chr 7

lysine methyltransferase 2E (inactive)

Also known as: HDCMC04P, MLL5, NKp44L, ODLURO, SETD5B

NCBI Gene: 55904ENSG00000005483UniProt: Q8IZD2

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtO'Donnell-Luria-Rodan syndrome

Clinical highlights

Gene-disease validity (ClinGen)
complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.06
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — KMT2E
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.06LOEUF
pLI 1.000
Z-score 8.11
OE 0.01 (0.00–0.06)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
1.42Z-score
OE missense 0.87 (0.82–0.92)
849 obs / 973.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.01 (0.00–0.06)
0≤0.351.4
Missense OE?0.87 (0.82–0.92)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 1 / 78.6Missense obs/exp: 849 / 973.7Syn Z: -2.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KMT2E · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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