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| FA2H | Fatty acid 2-hydroxylase; Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids; Belongs to the sterol desaturase family. SCS7 subfamily (372 aa) | |||
| SLC35D1 | UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter; Transports both UDP-glucuronic acid (UDP-GlcA) and UDP- N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm into the endoplasmic reticulum lumen. Plays a role in chondroitin sulfate biosynthesis, which is important for formation of cartilage extracellular matrix and normal skeletal development (By similarity); Solute carriers (355 aa) | |||
| JAG1 | Protein jagged-1; Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro); CD molecules (1218 aa) | |||
| NOTCH2 | Neurogenic locus notch homolog protein 2; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL- [...] (2471 aa) | |||
| NOTCH3 | Neurogenic locus notch homolog protein 3; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity) (2321 aa) | |||
| VWDE | Von Willebrand factor D and EGF domains (1590 aa) | |||
| NOTCH1 | Neurogenic locus notch homolog protein 1; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the maturation of both CD4+ [...] (2555 aa) | |||
| SLC9C1 | Sodium/hydrogen exchanger 10; Sperm-specific sodium/hydrogen exchanger involved in intracellular pH regulation of spermatozoa. Required for sperm motility and fertility. Involved in sperm cell hyperactivation, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for the expression and bicarbonate regulation of the soluble adenylyl cyclase (sAC) (By similarity); Solute carriers (1177 aa) | |||
| SLC9A9 | Sodium/hydrogen exchanger 9; May act in electroneutral exchange of protons for Na(+) across membranes. Involved in the effusion of Golgi luminal H(+) in exchange for cytosolic cations. Involved in organelle ion homeostasis by contributing to the maintenance of the unique acidic pH values of the Golgi and post-Golgi compartments in the cell; Belongs to the monovalent cation-proton antiporter 1 (CPA1) transporter (TC 2.A.36) family (645 aa) | |||
| JAG2 | Protein jagged-2; Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development (By similarity) (1238 aa) | |||
| TBC1D22A | TBC1 domain family member 22A; May act as a GTPase-activating protein for Rab family protein(s) (517 aa) | |||
| ATP13A1 | Manganese-transporting ATPase 13A1; Mediates manganese transport into the endoplasmic reticulum. The ATPase activity is required for cellular manganese homeostasis; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily (1204 aa) | |||
| CRB1 | Protein crumbs homolog 1; Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion; Belongs to the Crumbs protein family (1406 aa) | |||
| SLC9A6 | Sodium/hydrogen exchanger 6; Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis; Solute carriers (701 aa) | |||
| TBC1D22B | TBC1 domain family member 22B; May act as a GTPase-activating protein for Rab family protein(s) (505 aa) | |||
| CRB2 | Protein crumbs homolog 2; Apical polarity protein that plays a central role during the epithelial-to-mesenchymal transition (EMT) at gastrulation, when newly specified mesodermal cells move inside the embryo. Acts by promoting cell ingression, the process by which cells leave the epithelial epiblast and move inside the embryo to form a new tissue layer. The anisotropic distribution of CRB2 and MYH10/myosin-IIB at cell edges define which cells will ingress- cells with high apical CRB2 are probably extruded from the epiblast by neighboring cells with high levels of apical MYH10/myosin-II [...] (1285 aa) | |||
| MATN1 | Cartilage matrix protein; Cartilage matrix protein is a major component of the extracellular matrix of non-articular cartilage. It binds to collagen; Matrilins (496 aa) | |||
| SLC8A3 | Sodium/calcium exchanger 3; Mediates the electrogenic exchange of Ca(2+) against Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to cellular Ca(2+) homeostasis in excitable cells, both in muscle and in brain. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A3 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels r [...] (927 aa) | |||
| MON2 | Protein MON2 homolog; May be required for traffic between late Golgi and early endosomes; Armadillo-like helical domain containing (1717 aa) | |||
| SLC9B2 | Sodium/hydrogen exchanger 9B2; Na(+)/H(+) antiporter that extrudes Na(+) or Li(+) in exchange for external protons across the membrane. Contributes to the regulation of intracellular pH, sodium homeostasis, and cell volume. Plays an important role for insulin secretion and clathrin-mediated endocytosis in beta- cells (By similarity). Involved in sperm motility and fertility (By similarity). It is controversial whether SLC9B2 plays a role in osteoclast differentiation or not (By similarity); Solute carriers (537 aa) | |||
| MATN3 | Matrilin-3; Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks; Matrilins (486 aa) | |||
| COG6 | Conserved oligomeric Golgi complex subunit 6; Required for normal Golgi function; Components of oligomeric golgi complex (657 aa) | |||
| SLC9A8 | Sodium/hydrogen exchanger 8; Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction; Belongs to the monovalent cation-proton antiporter 1 (CPA1) transporter (TC 2.A.36) family (597 aa) | |||
| NOTCH2NL | Notch homolog 2 N-terminal-like protein; May function in the Notch signaling pathway and regulate neutrophil differentiation (236 aa) | |||
| SLC9A7 | Sodium/hydrogen exchanger 7; Mediates electroneutral exchange of protons for Na(+) and K(+) across endomembranes. May contribute to Golgi volume and cation homeostasis; Solute carriers (726 aa) | |||
| ENSG00000278882 | annotation not available (236 aa) | |||
