From: Heart disease in a mutant mouse model of spontaneous eosinophilic myocarditis maps to three loci
Gene | Name | Position Bld38 | Example of Possible Biological Relevance |
---|---|---|---|
Emhd1 (Chr5: 145128608 – 147778059): 46 known protein-coding genes | |||
 Arpc1b | Actin related protein 2/3 complex, subunit 1B | 145,114,256-145,128,186 | deficiency associated with severe inflammation, immunodeficiency, and cardiac vasculitis [19] |
 Cdk8 | Cyclin-dependent kinase 8 | 146,231,230-146,302,874 | ectopic expression of Cdk8 induces eccentric hypertrophy and heart failure [20] |
 Flt1 | FMS-like tyrosine kinase 1 | 147,562,196-147,726,005 | increased cardiac remodeling in cardiac-specific Flt1 receptor knockout mice [21] |
 Flt3 | FMS-like tyrosine kinase 3 | 147,330,741-147,400,489 | activation improves post-myocardial infarction remodeling by protective effect on cardiac cells [22] |
 Lnx2 | Ligand of numb-protein X 2 | 147,016,655-147,076,572 | affects T-cell-mediated immune responses by regulating level of the T-cell co-receptor, CD8α [23] |
Emhd2 (Chr17: 15358323 – 23816187): 61 known protein-coding genes | |||
 Dll1 | Delta-like canonical Notch ligand 1 | 15,367,354-15,376,048 | increased serum levels associated with diastolic dysfunction, reduced exercise capacity, and adverse outcome in chronic heart failure [24] |
 Ppp2r1a | Protein phosphatase 2, regulatory subunit A, alpha (PP2A) | 20,945,454-20,965,905 | requisite for the function of regulatory T cells [25] |
 Tnfrsf12a | TNF receptor superfamily, member 12a (fn14) | 23,675,445-23,677,449 | a novel role in the development of cardiac dysfunction and failure [26] |
Emhd3 (Chr17: 31471362 – 46058209): 261 known protein-coding genes | |||
 C2, C4a, C4b, Cfb | Complement components 2, 4a, 4b, and factor b (alternative pathway) | between 34.728-34.882 | the alternative complement pathway is dysregulated in patients with chronic heart failure [27] |
 H2 genes | ~ 3 dozen MHC genes | between33.996-37.275 | a humanized HLA-DR4 mouse model for autoimmune myocarditis [28] |
 Tnf | Tumor necrosis factor | 35,199,381-35,202,007 | cardiac-specific overexpression causes lethal myocarditis in transgenic mice [29] |
 Tnfrsf21 | TNF receptor superfamily, member 21 | 43,016,555-43,089,188 | KO mice show increased Th2 immune responses to T-dependent and -independent antigens [30] |