Table 2 Localization and functions of proteins encoded by the genes found in the largest modules of the multilayer communities of severe and not-severe groups
Activity localization | Class | CMS causal gene | Phenotype group | Function | Synaptic localization (Manual curation) | Localization (UniProt) | |
|---|---|---|---|---|---|---|---|
Not-severe | Severe | ||||||
ECM (ECM) | Proteoglycans | AGRN | – | AGRN | Cell hydration and growth factor trapping | Pre- and postsynaptic (PMID: 29462312) | Synaptic basal lamina/ECM |
– | – | HSPG2 | Basement membrane (PMID:30453502) | Basement membrane/ECM | |||
– | – | VCAN | ECM (PMID:29211034) | ECM | |||
– | – | COL15A1 | Basement membrane (PMID:26937007) | ECM | |||
Collagens | COL13A1 | – | – | Structural support | Basement membrane (PMID: 30768864) | Post-synaptic cell membrane | |
– | COL6A5 | – | Basement membrane (PMID:23869615) | Extracellular matrix | |||
Laminins | LAMA5 | – | – | Web-like structures | Pre-synaptic (PMID:28544784) | Basement membrane/ECM | |
LAMB2 | – | – | Basement membrane (PMID:27614294) | Basement membrane/ECM/Synaptic cleft | |||
– | LAMB4 | – | Myenteric plexus basement membrane (PMID: 28595269) | Basement membrane/ECM | |||
– | – | LAMA2 | Pre-synaptic (PMID:9396756) | Basement membrane/ECM | |||
– | – | USH2A | Neuronal projection of stereocilia (PMID:19023448) | Stereocilia membrane/Secreted (Extracellular region) | |||
Fibulins | – | HMCN1 | – | Scaffolding | Glomerular Extracellular matrix (PMID: 29488390) | Basement membrane/ECM | |
Tenascins | – | – | TNC | Anti-adhesion | Basement membrane (PMID: 29466693) | ECM/Perisynaptic ECM (Ensembl) | |
TNXB | Basement membrane (PMID: 23768946) | ECM | |||||
LOXL3 | Collagen assembly | Basement membrane (PMID:26954549) | Secreted (extracellular region) | ||||
ADAMTS9 | – | Proteoglycan cleavage | Secreted to ECM (PMID:30626608) | ECM | |||
ADAM28 | – | ECM (PMID:24613731) | Cell membrane/Secreted (extracellular region) | ||||
Neuropeptides | – | – | CHGB | Regulatory peptides precursor | Pre- and postsynaptic (PMID:7526287) | Secreted (extracellular region) | |
Others | – | ITIH5 | – | Hyaluronic acid binding | ECM (PMID:27143355) | Secreted (extracellular region) | |
Cell surface | Receptors | – | MSR1 | – | Proteoglycan and collagen binding | Macrophage surface Scavenger Receptor (PMID:12488451) | Plasma membrane |
MCAM | Plasma membrane (PMID:28923978) | Plasma membrane | |||||
LRP4 | – | – | Laminin binding | Post-synaptic (PMID:25319686) | Post-synaptic cell membrane | ||
Cytoplasm | Cytoskeleton | PLEC | – | – | Structural support | Post-synaptic (PMID:20624679) | Post-synaptic cytoskeleton |
