KMT2E

Cilia effects upon perturbation of KMT2E

Cilia number / % ciliated:

Decreased cilia number

Ciliogenesis screen results (1 screen)

• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

increased red blood cell distribution width, increased total body fat amount, decreased lean body mass, increased circulating insulin level, increased mean corpuscular hemoglobin, increased mean corpuscular hemoglobin concentration, increased blood urea nitrogen level, absent pin reflex

Human ciliopathy phenotype:

Intellectual disability; Global developmental delay

Subcellular localization

cilia associated gene, nucleus

Functional category

• Ciliary assembly/disassembly

Function

In vitro pooled CRISPR interference screen to identify CHD genes disrupting NPC biology and identified 45 CHD genes. A cluster of ASD and CHD genes are enriched for ciliary biology, and perturbing any one of seven such genes (CEP290, CHD4, KMT2E, NSD1, OFD1, RFX3 and TAOK1) impairs primary cilia formation in vitro(PMID: 40552535). Repression of ASD-CHD genes (CEP290, CHD4, KMT2E, NSD1, OFD1, RFX3, TAOK1) results in a decrease in percent ciliated cells. (39131273)