Table 1.

Tissue-specific roles of nuclear envelope proteins

NE component	Protein	Expression	Tissue-specific disorder or developmental role	References
Nuclear Lamina	Lamin A, Lamin C	Most differentiated cells	Muscular dystrophies, cardiomyopathies, lypodystrophies and peripheral neuropathies. Progeroid syndromes, affecting various tissues including skin, bone, adipose, cardiac and skeletal muscle.	[72,73,77]
Inner Nuclear Membrane	Emerin	Predominantly expressed in cardiac and skeletal muscle.	Cardiomyopathy and Emery-Dreifuss muscular dystrophy (EDMD). Antagonizes ERK and Wnt signaling.	[21,34,37–40, 83,78] [74]
	LBR	Predominantly expressed in neutrophils.	Pelger-Huet anomaly (blood laminopathy affecting neutrophils); Greenberg skeletal dysplasia (mainly affecting bone tissue). Regulates growth and maturation of myeloid progenitors.	[24,35]
	Nesprin1	Predominantly expressed in brain, pancreas, kidney, cardiac, and skeletal muscle.	EDMD-like phenotype, cardiomyopathy and cerebellar ataxia.	[75]
	LEM2	Predominantly expressed in skeletal muscle.	Negatively regulates ERK signaling during muscle differentiation.	[36]
	MAN1		Negatively regulates TGF-β signaling. Loss of function mutations lead to sclerosing bone dysplasias in humans.	[22,25–29]
	NET37		Involved in AKT signaling. Maturation and secretion of IGFII during myogenesis.	[42]
	NET39		Repression of mTOR signaling during muscle differentiation.	[41]
	SUN1	Predominantly expressed in brain, testis, heart and skeletal muscle.	Progeric and dystrophic laminopathies. Gametogenesis in mice.	[14,76••]
Nuclear Pore Complex	NUP155	Predominantly expressed in cardiac and skeletal muscle.a	Missense mutation causes atrial fibrillation in cardiac muscle in humans. Regulates hypertrophy-related genes by modulating HDAC4 function in rat cardiomyocytes.	[50•,55]
	NUP133	Differentially expressed during embryogenesis.a	Neuronal cell differentiation during mouse embryogenesis.	[51•]
	NUP210	Only in certain cell types including epithelial cells, differentiated myotubes and neuroprogenitor cells.	Muscle and neuronal cell differentiation.	[60,61,62••]
	NUP50	Highly expressed in developing neural tube and testis in mice.	Neural tube formation during embryogenesis in mouse. Gene regulatory function during development in D. melanogaster.	[69••,71]
	NUP98	Ubiquituous.	Acute myeloid leukemia; hematopoietic stem-cell proliferation in humans. Activation of genes involved in developmental regulation in D. melanogaster.	[49,68••,69••]

^aDifferential expression of nucleoporins only determined by mRNA levels.