Table 2.
Congenital heart disease (CHD) associated genes and expression pattern in NIPBL+/− cardiomyocytes.
| GENE | PROTEIN NAME | PHENOTYPES | p-Value | Expression |
|---|---|---|---|---|
| Transcriptional regulators | ||||
| ANKRD1 | Ankyrin repeat domain | TAPVR | 0.067 | down |
| CITED2 | c-AMP responsive element-binding protein | ASD; VSD | 0.690 | up |
| GATA4 | GATA4 transcription factor | ASD, PS, VSD, TOF, AVSD | 0.064 | up |
| GATA6 | GATA6 transcription factor | ASD, TOF, PS, AVSD, PDA, OFT defects, VSD | 0.068 | down |
| HAND2 | Helix-loop-helix transcription factor | TOF | 0.580 | up |
| IRX4 | Iroquois homeobox 4 | VSD | 0.650 | down |
| MED13L | Mediator complex subunit 13-like | TGA | 0.360 | up |
| NKX2.5 | Homeobox containing transcription factor | ASD, VSD, TOF, CoA, TGA, DORV, IAA, OFT defects | 0.210 | up |
| NKX2.6 | Homeobox containing transcription factor | PTA | 0.003 | up |
| TBX1 | T-Box 1 transcription factor | TOF | 0.380 | up |
| TBX20 | T-Box 20 transcription factor | ASD, VSD | 0.120 | up |
| TBX5 | T-Box 5 transcription factor | AVSD, ASD, VSD | 0.100 | up |
| TFAP2B | Transcription factor AP-2 beta | PDA | 0.200 | up |
| ZFPM2 | Friend of GATA | TOF | 0.480 | down |
| ZIC3 | Zinc finger transcription factor | TGA, PS, DORV, TAPVR, ASD, HLH, VSD, Dextrocardia, L-R axis defects | 0.110 | up |
| Receptors, ligands, and signaling | ||||
| ACVR2B | Activin A receptor typeIIB | PS, DORV, TGA, dextrocardia | 0.730 | up |
| ALDH1A2 | Aldehyde dehydrogenase 1, family member A2 | TOF | ||
| ALK2 | BMP receptor | AVSD, endocardial cushion defects | 0.200 | down |
| CRELD1 | Epidermal growth factor-related proteins | ASD; AVSD, endocardial cushion defects | 0.440 | up |
| CRYPTIC | Cryptic protein | TOF; TGA; AVSD; ASD; VSD; IAA; DORV | 0.340 | up |
| FOXH1 | Forkhead activin signal transducer | TOF, TGA | 0.052 | up |
| GDF1 | Growth differentiation factor-1 | Heterotaxy, TOF, TGA, DORV | 1.000 | 0 |
| GJA1 | Gap junction protein alpha 1, Connexin 43 | ASD, TAPVR | 0.059 | down |
| JAG1 | Jagged-1 ligand | PAS, TOF | 0.200 | down |
| LEFTY2 | Left-right determination factor | TGA, AVSD, IAA, CoA, L-R axis defects, IVC defects | 0.009 | up |
| NODAL | Nodal homolog (TGF-beta superfamily) | TGA, PA, TOF, DORV, dextrocardia, IVC defect, TAPVR, AVSD | 0.490 | up |
| NOTCH1 | NOTCH1 (Ligand of JAG1) | BAV, AS, CoA, early valve calcification | 0.062 | up |
| PDGFRA | Platelet-derived growth factor receptor alpha | TAPVR | 0.120 | down |
| SMAD6 | MAD-related protein, member 6 | BAV, CoA, AS | 0.056 | up |
| TAB2 | TGF-beta activated kinase | OFT defects | 0.950 | up |
| TDGF1 | Teratocarcinoma-derived growth factor | TOF, VSD | 0.00005 | up |
| VEGFA | Vascular endothelial growth factor A | CoA, OFT defects | 0.680 | up |
| VEGFB | Vascular endothelial growth factor B | CoA, OFT defects | 0.410 | up |
| VEGFC | Vascular endothelial growth factor C | CoA, OFT defects | 0.680 | down |
| Structural Proteins | ||||
| ACTC1 | Alpha actin 1, cardiac muscle | ASD | ||
| BMPR2 | bone morphogenetic protein receptor type II | cardiac septation defects associated with pulmonary hypertention | 0.780 | up |
| CALM2 | calmodulin 2 (phosphorylase kinase, delta) | Catecholaminergic polymorphic ventricular tachycardia (CPVT) | 0.28 | down |
| DLK1 | Delta-like 1 homologue (Drosophila) | VSD | 0.130 | down |
| ELN | Elastin | SVAS, PAS, PS, AS | 0.420 | up |
| MYBPC3 | Myosin binding protein C, cardiac | Hypertrophic Cardiomyopathy (HCM) | 0.820 | up |
| MYH11 | Myosin heavy chain 11, smooth muscle | PDA, Aortic Aneurysm | 0.460 | up |
| MYH6 | Alpha myosin heavy chain 6, cardiac muscle | ASD, TA, AS, PFO, TGA, hypertrophic cardiomyopathy | 0.022 | up |
| MYH7 | Beta myosin heavy chain 7, cardiac muscle | Ebstein anomaly, ASD, NVM | 0.074 | down |
| MYL2 | Myosin light chain 2 | Hypertrophic Cardiomyopathy | 0.004 | down |
| NPPB | Natriuretic peptide B | ASD, heart failure | 0.084 | down |
| PLA2G2A | Phospholipase A2 group IIA | ASD | 0.77 | down |
| PLN | Phospholamban | Hypertrophic Cardiomyopathy (HCM), CHF | 0.39 | down |
| SCN5 | Sodium channel voltage gated, type V alpha subunit | Long QT syndrome type 3 (LQT3) | 0.260 | down |
| TMEM190 | Transmembrane protein 190 | VSD | 0.540 | down |
| TNNI3 | troponin I type 3 (cardiac) | Hypertrophic Cardiomyopathy (HCM) | 0.250 | up |
| TNNT2 | troponin T type 2 (cardiac) | Hypertrophic Cardiomyopathy (HCM) | 0.850 | up |
| TPM1 | Tropomyosin 1 (alpha) | Hypertrophic Cardiomyopathy (HCM) | 0.0001 | down |
| XDH | Xanthine dehydrogenase | Hypertension, Xanthinuria | 0.280 | down |