Gene | Name | Function | Risk/other | References |
C4B | C4-B | Convertase, complement cascade protein; synaptic pruning | ASD + SCHZ | 70 |
C4A | C4-A | Convertase, complement cascade protein; synaptic pruning | SCHZ high C4A/C4B ratio | 76 |
C1S | C1s subcomponent | Serine protease, the first component of the classical pathway of the complement system | ASD variants | 90 |
CD99L2 | CD99 antigen-like protein 2 | Homophilic adhesion may not be required for cell adhesion | ASD variants | 91 |
JARID2 | Protein Jumonji | Regulator of histone methyltransferase complexes, transcriptional repressor | ASD variants | 91 |
TPO | Thyroid peroxidase | Production of thyroid hormones required for brain development | ASD variants | 91 |
MET | Hepatocyte growth factor receptor | Receptor tyrosine kinase for hepatocyte growth factor. Mediates excitatory synapse formation | ASD variants | 92 |
MIF | Macrophage migration inhibitory factor | Proinflammatory cytokine that regulates innate immune response to bacterial pathogens | ASD variants | 93 |
PRKCB | Protein kinase C beta type | Mediates activation of the canonical NF-kappa-B pathway | ASD variants | 93 |
HLA-A2 | HLA class I histocompatibility antigen, A-2 alpha chain | presentation of foreign antigens to the immune system. Negatively regulates synapse formation and plasticity in the developing brain | ASD variants | 94 |
HLA-DRB1 | HLA class II histocompatibility antigen, DRB1-14 beta chain | Expressed on antigen-presenting cells; initiates cellular immune responses to extracellular pathogens | ASD variants | 95 |
IL1RAPL1 | IL-1 receptor accessory protein-like 1 | Regulate presynaptic differentiation by inhibiting voltage-gated Ca channel. Presynaptic and postsynaptic differentiation and dendritic spine formation | ASD variants | 96 |
IL1R2 | IL-1 receptor type 2 | Decoy receptor by competitive binding to IL1B and prevents binding to IL1R1. Regulation of immune response | ASD mutation | 73 |
CD14 | Monocyte differentiation antigen CD14 | Mediates innate immune response to bacterial lipopolysaccharide | SCHZ de novo mutations | 67 |
MUC6 | Mucin-6 | Cytoprotection of epithelial surfaces, antibacterial | SCHZ de novo mutations | 40 |
NLRC5 | Protein NLRC5 | Regulator of NF-kappa-B and type-I interferon pathways. homeostatic control of innate immunity and in antiviral defense | SCHZ de novo mutations | 40 |
CCHCR1 | Coiled-coil alpha-helical rod protein 1 | MHC locus, involved in keranocyte proliferation | SCHZ mutation | 35 |
ASD, autism spectrum disorder; HLA, human leucocyte antigen; IL, interleukin; MHC, major histocompatibility complex; NF, nuclear factor; SCHZ, schizophrenia.