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] |