Table 15.
Summary of Functions, Nature, Compartmentalization, Related Pathways, and Cardinal Diseases Associated with NIPA1, NIPA2, CYFIP1, and TUBGCP5 Genes in the 15q11.2 BP1-BP2 Region.
| NIPA1 | NIPA2 | CYFIP1 | TUBGCP5 |
|---|---|---|---|
| NIPA Magnesium Transporter 1 | NIPA Magnesium Transporter 2 | Cytoplasmic FMR1 Interacting Protein 1 | Tubulin Gamma Complex Associated Protein 5 |
| Protein Coding Gene | Protein Coding Gene | Protein Coding Gene | Protein Coding Gene |
| Cellular Compartmental Distribution with confidence number: | Cellular Compartmental Distribution with confidence number: | Cellular Compartmental Distribution with confidence number: | Cellular Compartmental Distribution with confidence number: |
| plasma membrane (5) * | plasma membrane (4) * | extracellular (4) * | cytoskeleton (5) * |
| endosome (4) * | endosome (3) * | cytosol (4) * | cytosol (5) * |
| Golgi apparatus (1) * | cytoskeleton (1) * | nucleus (2) * | |
| mitochondrion (1) * | |||
| nucleus (1) * | |||
| Among its Related Pathways are: | Among its Related Pathways are: | Among its Related Pathways are: | Among its Related Pathways are: |
| miscellaneous transport and binding events and transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. | miscellaneous transport and binding events and transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. | Regulation of actin dynamics for phagocytic cup formation and signaling by Rho GTPases. | Nanog in Mammalian ESC Pluripotency and G-Beta Gamma Signaling. |
| Cardinal Diseases Associated with NIPA1: | Cardinal Diseases Associated with NIPA2: | Cardinal Diseases Associated with CYFIP1: | Cardinal Disease Associated with TUBGCP5: |
| Spastic Paraplegia 6, Autosomal Dominant & Spastic Paraplegia 6. | Angelman Syndrome and Prader–Willi Syndrome. | Fragile X Syndrome and Autism. | Prader–Willi Syndrome. |
Source: GeneCards.org, MalaCards.org, SAFARI.Org, KEGG, PubMed, Gene Ontology (GO), OMIM.org, Entrez, and UniProtKB/Swiss-Prot. * Subcellular Locations Confidence Levels: #5 denotes highest confidence level; #1 denotes lowest confidence level; Confidence Levels obtained from https://compartments.jensenlab.org.