KMT2D

lysine methyltransferase 2D

Ensembl:: ENSG00000167548
UniProt:: O14686
OMIM:: 602113
Synonyms:: ALR, CAGL114, MLL2, MLL4, TNRC21

Cilia effects upon perturbation of KMT2D

Ciliogenesis screen results (2 screens)

Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.91) PMID:29459680
Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.58) PMID:41160700

Phenotypes

Mouse phenotype:: decreased circulating chloride level; decreased body length; increased circulating amylase level; decreased erythrocyte cell number; decreased leukocyte cell number; decreased circulating sodium level; increased mean corpuscular hemoglobin; increased circulating alkaline phosphatase level

Ciliopathy associations

Holoprosencephaly

Subcellular localization

cytosol, nucleoplasm, plasma membrane

Functional category

Metabolism; Motile cilium & axoneme

Function

Mutations in KMT2D cause Holoprosencephaly (PMID: 31846209).

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