MC4R

Cilia effects upon perturbation of MC4R

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.70) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

obesity; Obesity; obesity due to melanocortin 4 receptor deficiency

Ciliopathy associations

• Ciliary Monogenic Obesity

References: PMID:29311635

Subcellular localization

cilia, nucleus

References: PMID:26814590, PMID:10903341, PMID:29311635

Functional category

• Ciliary assembly/disassembly
• Signaling (Hedgehog, GPCRs, ion channels)
• Transcription regulation

Function

The melanocortin 4 receptor (MC4R) is a Gs-coupled GPCR that transduces anorexigenic signals in the long-term regulation of energy homeostasis (26814590). Heterozygous mutations in MC4R in humans and deletion of MC4R in mice are the most common monogenic cause of severe obesity , and individuals with homozygous null mutations display severe early-onset obesity (10903341, 9019399). In ciliated cells, MC4R localized to primary cilia (29311635).