Table 2.
Coding and non-coding genes in the LD blocks of the most significant markers for CBE.
| Gene name | Associated SNP | Protein encoded | Type | Cellular location | Function |
|---|---|---|---|---|---|
| LPHN2 | rs1924557 | Adhesion G protein-coupled receptor L2 | G protein-coupled receptor | Transmembrane of plasma membrane | Exocytosis regulator |
| EFNA1 | rs4745 | Ephrin-A1 | Tyrosine kinase receptor | Transmembrane of plasma membrane | GPI-bound ligand for Eph receptors, involved in cell migration, repulsion, and adhesion |
| SLC50A1 | rs4745 | Solute Carrier Family 50 Member 1 | Glucose transporter | Transmembrane of plasma membrane | Sugar transport across membranes |
| DPM3 | rs4745 | Dolichol-phosphate mannosyltransferase subunit 3 | Synthase of mannosyl residual | Endoplasmic reticulum membrane | Stabilizer subunit of DPM complex (DPM1, DPM2, and DPM3) |
| KRTCAP2 | rs4745 | Kerotinocyte-associated protein 2 | Subunit of the oligosaccharyl transferase complex | Endoplasmic reticulum membrane | Protein N-glicosilation. Transfer of defined glycan (Glc(3)Man(9)GlcNAc(2). |
| ISL1 | rs6874700 | Insulin Gene Enhancer Protein ISL-1 | Transcription Factor | Nucleus | DNA-binding transcriptional activator |
| TRIM29 | 11:119964758 | Tripartite motif-containing protein 29 | Zinc finger and Leucine zipper motif | Nucleic acid binding and macrophage activation | |
| SYT1 | rs10862001 | Synaptotagmin-1 | Ca(2+) sensor | Transmembrane of synaptic vesicles | Triggering neurotransmitter release |
| PAWR | rs10862001 | Pro-Apoptotic WT1 Regulator | Apoptosis inducer | Nucleus and cytoplasm | Downregulation of BCL2 via its interaction with WT1 |
| GOSR2 | rs10853087 | Golgi SNAP receptor complex member 2 | Trafficking membrane protein | Golgi | Protein transport from the cis/medial-Golgi |
| LINC01974 | rs10853087 | / | Long ncRNA | Unknown | Unknown |
| LINC01716 | 20:55165923 | / | Long ncRNA | Unknown | Unknown |
| HMGB1P47 | rs6874700 | / | Long ncRNA | Unknown | Unknown |
| ISL1-DT | rs6874700 | / | Long ncRNA. ISL1 divergent transcript. | Unknown | Unknown |