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Table 3 Positional Candidate Genes for Emhd1-3

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]