Table 5.
Genes associated with various forms of atrial fibrillation, familial (ATFB)
| Gene | OMIM gene | Disease | OMIM disease | Inheritance | Function |
| KCNQ1 | 607542 | ATFB3 | 607554 | AD | Repolarizes cardiac action potential |
| KCNE2 | 603796 | ATFB4 | 611493 | AD | Modulates gating kinetics and enhances stability of voltage-gated K+ channel complex |
| NPPA | 108780 | ATFB6 | 612201 | AD | Key role in regulation of natriuresis, diuresis, vasodilation |
| KCNA5 | 176267 | ATFB7 | 612240 | AD | Mediates transmembrane potassium transport in excitable membranes |
| KCNJ2 | 600681 | ATFB9 | 613980 | AD | Establishes action potential and excitability of neurons and muscles |
| SCN5A | 600163 | ATFB10 | 614022 | AD | Mediates voltage-dependent Na+ permeability of excitable membranes |
| GJA5 | 121013 | ATFB11 | 614049 | AD | Allows passive diffusion of small molecules, including glucose, K+, Ca2+ and cAMP |
| ABCC9 | 601439 | ATFB12 | 614050 | AD | Subunit of ATP-sensitive K+ channels |
| SCN1B | 600235 | ATFB13 | 615377 | AD | Regulates assembly, expression, function of Na+ channel complex |
| SCN2B | 601327 | ATFB14 | 615378 | AD | Assembly, expression, modulation Na+ channel complex |
| SCN3B | 608214 | ATFB16 | 613120 | AD | Modulates channel-gating kinetics |
| SCN4B | 608256 | ATFB17 | 611819 | AD | Interacts with voltage-gated alpha subunits to change Na+ channel kinetics |
| MYL4 | 160770 | ATFB18 | 617280 | AD | Encodes a myosin alkali light chain expressed in embryonic muscle and adult atria |
| NUP155 | 606694 | ATFB15 | 615770 | AR | Plays a role in fusion of nuclear envelope vesicles and may also be involved in heart physiology |
| KCND3 | 605411 | ATFB | / | AD | Pore-forming subunit of voltage-gated rapidly-inactivating A-type K+ channels |
| KCNE1 | 176261 | ATFB | / | AD | Modulates gating kinetics and enhances stability of voltage-gated K+ channel complex |
| KCNH2 | 152427 | ATFB | / | AD | Pore-forming subunit of voltage-gated inwardly rectifying K+ channels |
| LMNA | 150330 | ATFB | / | AD | Component of nuclear lamina and required for cardiac homeostasis |
| NKX2-5 | 600584 | ATFB | / | AD | Transcription factor involved in heart formation and development |
| PRKAG2 | 602743 | ATFB | / | AD | Energy-sensing enzyme that monitors cell energy status and functions; inhibits de novo biosynthesis of fatty acids and cholesterol |
| RYR2 | 180902 | ATFB | / | AD | Ca2+ channel that triggers cardiac muscle contraction |
| GATA4 | 600576 | ATFB | / | AD | Regulates genes involved in myocardial differentiation and function |
| GATA5 | 611496 | ATFB | / | AD | Required for cardiovascular development |
| GATA6 | 601656 | ATFB | / | AD | Required for cardiovascular development |
| PITX2 | 601542 | ATFB | / | AD | May play a role in proper localization of asymmetric organs such as heart |
| TBX5 | 601620 | ATFB | / | AD | Regulates transcription of several genes involved in heart development |
| ZFHX3 | 104155 | ATFB | / | AD | Regulates myogenic differentiation |
| SHOX2 | 602504 | ATFB | / | AD | Transcriptional regulator involved in pattern formation in vertebrates |
| PRRX1 | 167420 | ATFB | / | AD | Role in establishment of diverse mesodermal muscle types |
| KCNN3 | 602983 | ATFB | / | AD | Forms a voltage-independent K+ channel activated by intracellular Ca2+ |
AD=autosomal dominant; AR=autosomal recessive