Figure 2.

Network of Interacting TAAD CNV Genes

Genes within TAAD-associated CNVs are colored green (FTAAD), orange (BCM), or blue (UTHSCH); lines indicate functional or physical interactions between gene products; not all genes in the network are shown. All CNVs represented in this network are rare and occur in one or none of 4922 control individuals. The following abbreviations are used: ABRA, actin-binding Rho-activating protein; ABLIM, actin-binding LIM protein family; ACAN, aggrecan; ACTR2, actin-related protein 2 homolog; AFAP1, actin filament-associated protein 1; AKAP12, A kinase anchor protein12; ALOX5, 5-lipoxygenase; ARHGAP26, GTPase regulator associated with FAK; ATF2, activating transcription factor 2; BGN, biglycan; BMP4, bone morphogenetic protein 4; BMPR1B, bone morphogenetic protein receptor 1B; BMPER, BMP-binding endothelial cell precursor-derived regulator; EPHA5, ephrin type A receptor 5; EMMPRIN, extracellular matrix metalloproteinase inducer; CAPZA1, capping protein muscle Z-line, alpha 1; CCDC88A, coiled-coil domain containing 88A; CD36, thrombospondin receptor; CLDN, claudins; COL18A1, collagen type 18, alpha 1 and endostatin; CSRP2, cysteine-rich protein 2; FAK, focal adhesion kinase; FOG2, friend of GATA2; GDF5, growth differentiation factor 5; HAND1, heart and neural crest derivatives expressed 1; ID1, inhibitor of DNA binding 1; ILKAP, integrin-linked kinase-associated phosphatase; JAG, jagged homolog; JAM3, junctional adhesion molecule 3; JNK, JUN N-terminal kinase; LIMK1, LIM domain kinase 1; MIB2, mindbomb homolog 2; MMP9, matrix metalloproteinase 9; MT1-MMP, matrix metalloproteinase 14; MRTFs, myocardin- related transcription factors; MYH11, myosin heavy chain, smooth muscle isoform; MYL9, myosin regulatory light chain 2, smooth muscle isoform; MYOCD, myocardin; NID2, nidogen 2; OVOL2, Ovo-like 2; PARD3, partitioning defective 3 homolog; PMP22, peripheral myelin protein 22; POSH, plenty of SH3s; PRKAR2A, cAMP-dependent protein kinase, regulatory subunit alpha 2; PPIA, cyclophilin A; PRKACA, cAMP-dependent protein kinase catalytic subunit alpha; PTPRA, protein tyrosine phosphatase, receptor type, alpha polypeptide; RGNEF, Rho guanine nucleotide exchange factor; RHOC, Ras homolog gene family, member C; ROCK, Rho-associated, coiled-coil domain-containing protein kinase; SMAD, mothers against decapentaplegic homolog; SMYD1, set and MYND domain-containing 1; SPRY2, sprouty homolog 2; SRF, serum response factor; TJP1, tight junction protein ZO-1; TNC, tenascin C; VCAN, versican; WASL, Wiskott-Aldrich syndrome gene-like protein; WIPF1, WAS/WASL-interacting protein family member 1. Figure was derived from IPA analysis (version 8.1) and created with Cytoscape (version 2.6.3).