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. Author manuscript; available in PMC: 2021 Apr 1.
Published in final edited form as: J Mol Cell Cardiol. 2020 Mar 21;141:43–52. doi: 10.1016/j.yjmcc.2020.02.010

Table 2.

List of nucleoporins associated with cardiovascular disorders. Each nucleoporin is depicted with their respective gene and/or protein alteration associated with the respective cardiopathology and related reference.

Cardiopathology Gene Name Description Gene/protein alteration Reference
Arrhythmias NUP155 Nucleoporin 155 missense mutation (R391H, L503F) [5, 42, 102]
NUP107 Nucleoporin 107 disrupted export of scn5a [103]
NUP37 Nucleoporin 37 nonsense mutation [2]
NUP153 Nucleoporin 153 protein overexpression [3]
Dilated Cardiomyopathy NDC1 NDC1 transmembrane nucleoporin protein overexpression [4]
NUP160 Nucleoporin 160 protein overexpression [4]
NUP93 Nucleoporin 93 protein overexpression [4]
NUP153 Nucleoporin 153 protein overexpression [3, 4, 104]
NUP358/RANBP2 RAN binding protein 2 gene down regulation [104]
Ischemic Cardiomyopathy NDC1 NDC1 transmembrane nucleoporin protein overexpression [4]
NUP160 Nucleoporin 160 protein overexpression [4]
NUP153 Nucleoporin 153 protein overexpression [3, 4, 104]
NUP358/RANBP2 RAN binding protein 2 gene down regulation [104]
NUP62 Nucleoporin 62 protein changes [105, 106]
Congestive Heart Failure NUP85/FROUNT Nucleoporin 85 protein overexpression and cytosolic mislocalization [107]
Valve, vascular disorders NUP188 Nucleoporin 188 Splice-donor site mutation, gene duplication [2, 96]
NUP43 Nucleoporin 43 nonsense mutation [2]
Heterotaxy/Situs inversus NUP205 Nucleoporin 205 missense mutation [99]
NUP210 Nucleoporin 210 missense mutation [99]
NUP188 Nucleoporin 188 gene duplication [97]