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Table 2 QMI targets, autism linkage, and antibody information

From: Clustering the autisms using glutamate synapse protein interaction networks from cortical and hippocampal tissue of seven mouse models

Gene name Protein name Description Simons score Evidence in ASD IP antibody Probe antibody
GRM5 mGluR5 Metabotropic glutamate receptor. G-protein coupled receptor activates Erk and PI3K cascades in response to glutamate. NS Rare variants identified in ASD patients [61, 75]. Plays a key role in Fragile X [41] and possibly other ASD models. Millipore 5675 Cat#AB5675 Neuromab N75/3
Cat# 75-115
GRIN1 NMDAR1 NMDA-type glutamate receptor subunits. NMDARs are heterotetramers with high Ca2+ permeability, essential for learning and memory. Subunits confer different functional properties to the receptor. 3 Rare variant in ASD siblings [76] Thermo 54.1 Cat# 02-0500 Santa Cruz polyclonal C20 Cat# sc-1467
GRIN2A NMDAR2A 4 Genetic association [77] Neuromab N327/95 Cat#75-288 Biolegend N327A/38 Cat# 832401
GRIN2B NMDAR2B 1 Multiple rare variants identified in ASD patients. [4, 78, 79] Biolegend N59/20 Cat# 832501 Biolegend N59/36 Cat# 818701
GRIA1 GluR1 AMPA-type glutamate receptor subunits. AMPARs are also tetramers. Subunits confer different functional properties to the receptor. 2 Recurrent missence mutations [4, 80] Biolegend N355/1 Cat# 819801 Millipore polyclonal 1504 Cat# AB1504
GRIA2 GluR2 Contained in an ASD-linked deletion [81] Biolegend L21/32 Cat# 810501 Santa Cruz polyclonal C20 Cat# sc-7610
NLGN3 NL3 Postsynaptic Neuroligin 3 binds presynaptic neurexins to create trans-synaptic adhesion bridges. Cleavage following activity may be involved in cell signaling. 2 Rare mutations; TADA study [82, 83] Thermo 566209 Cat# MA5-24253 Santa Cruz G2 Cat # sc-271880
HOMER1 Homer1 Postsynaptic scaffold linking Shanks, mGluRs, and many other postsynaptic components. Forms homo-tetramer via N-terminal coiled-coil domain. 4 Rare variants [61] Lifespan Biosciences AT1F3 Cat# LS-C103482 Santa Cruz D3
Cat # SC-17842
Homer1A Activity-dependent isoform of Homer1 that lacks coiled-coil domain and acts as a dominant negative, preventing scaffolding by long Homers. Santa Cruz polyclonal M13 Cat# sc-8922
DLG4 PSD95 Major component of postsynaptic density, scaffolds NMDARs and other components of the PSD via multiple binding domains. NS Rare variants and network gene analyses [84,85,86] Biolegend K28/74 Cat# 810301 Biolegend K28/43 Cat# 810401
DLG1 SAP97 Scaffold with similar function to PSD95, but differentspecific binding affinities. NS Exome sequencing revealed rare variants [85] Enzo RPI197.4 Cat# ADI-VAM-PS00 SantaCruz polyclonal H60 Cat# sc-25661
SHANK3 SHANK3 Scaffolding protein that forms a polymeric structure with Homer, and links multiple receptor types to downstream signaling pathways 1S Recurrent rare de novo mutations and copy number variations (deletions) [87] NeuroMab N367/62 Cat# 75-344 Enzo Life Sciences RPI197.4 Cat# ADI-VAM-PS00
UBE3A Ube3A E3 ubiquitin ligase, phospho-regulated by synaptic activity, that ubiquitinates Arc as well as other neuronal targets; also acts as a transcriptional regulator. 3S Rare variants and copy number variations (duplications) [88, 89] Santa Cruz H182 Cat# sc-25509 Santa Cruz E-4 Cat # sc-166689
SYNGAP1 SynGAP1 A RAS GTPase that is heavily expressed at the PSD. Negatively regulates RAS. PSD95 binding may be important in regulating synaptic binding “slots.” 1S Multiple rare variants [90] Cell Signaling D20C7 Cat# 5539 SantaCruz polyclonal R19 Cat# sc8572
FYN Fyn Kinase Associates with PSD95 and NMDARs, phosphorylates the latter. Also binds and is activated by mGluRs. None reported Santa Cruz Fyn15 Cat# sc-434 BioLegend FYN59 Cat# B149751
PIK3R1 PI3K PI3K is a lipid kinase that phosphorylates membrane phospholipids and initiates PI3K/AKT/mTOR signaling. The enzyme consists of a p85 regulatory and p110 catalytic subunit. Our antibodies target p85alpha. PI3K subunits PIK3CG and PIK3R2 (Simons score 4 and S, respectively) have been linked to autism [91, 92] Thermo-Fisher U5 Cat# MA1-74183 Millipore AB6 Cat# 05-212
  1. NS Listed in SFARI gene but not scored; − not listed