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BAIAP2L1 | BAI1-associated protein 2-like 1; May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection (511 aa) | |||
DLL3 | delta-like 3 (Drosophila); Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm (By similarity) (618 aa) | |||
PFN1 | profilin 1; Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR (140 aa) | |||
PFN2 | profilin 2; Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG (140 aa) | |||
DLL4 | delta-like 4 (Drosophila); Plays a role in the Notch signaling pathway. Activates Notch-1 and Notch-4 (By similarity) (685 aa) | |||
F12 | coagulation factor XII (Hageman factor); Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta- factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa (615 aa) | |||
JAG1 | 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) (1218 aa) | |||
CFC1 | cripto, FRL-1, cryptic family 1; NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation (223 aa) | |||
FRAS1 | Fraser syndrome 1 (4012 aa) | |||
NDUFB10 | NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (172 aa) | |||
HABP2 | hyaluronan binding protein 2; Cleaves the alpha-chain at multiple sites and the beta- chain between ’Lys-53’ and ’Lys-54’ but not the gamma-chain of fibrinogen and therefore does not initiate the formation of the fibrin clot and does not cause the fibrinolysis directly. It does not cleave (activate) prothrombin and plasminogen but converts the inactive single chain urinary plasminogen activator (pro- urokinase) to the active two chain form. Activates coagulation factor VII (560 aa) | |||
CRIM1 | cysteine rich transmembrane BMP regulator 1 (chordin-like); May play a role in CNS development by interacting with growth factors implicated in motor neuron differentiation and survival. May play a role in capillary formation and maintenance during angiogenesis. Modulates BMP activity by affecting its processing and delivery to the cell surface (1036 aa) | |||
GRID2 | glutamate receptor, ionotropic, delta 2; Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists (1007 aa) | |||
SORBS2 | sorbin and SH3 domain containing 2 (1100 aa) | |||
COL14A1 | collagen, type XIV, alpha 1 (1796 aa) | |||
COL22A1 | collagen, type XXII, alpha 1; Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts (1626 aa) | |||
EGFL7 | EGF-like-domain, multiple 7; Regulates vascular tubulogenesis in vivo. Inhibits platelet-derived growth factor (PDGF)-BB-induced smooth muscle cell migration and promotes endothelial cells adhesion to the substrate in vitro (By similarity) (273 aa) | |||
PFN4 | profilin family, member 4; Binds to actin and affects the structure of the cytoskeleton (By similarity) (129 aa) | |||
VWCE | von Willebrand factor C and EGF domains; May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of hapatocellular carcinoma (955 aa) | |||
DLK2 | delta-like 2 homolog (Drosophila); Regulates adipogenesis (By similarity) (383 aa) | |||
IRF2BP2 | interferon regulatory factor 2 binding protein 2; Acts as a transcriptional corepressor in a IRF2- dependent manner; this repression is not mediated by histone deacetylase activities. Represses the NFAT1-dependent transactivation of NFAT-responsive promoters. Acts as a coactivator of VEGFA expression in cardiac and skeletal muscle (587 aa) | |||
HGFAC | HGF activator; Activates hepatocyte growth factor (HGF) by converting it from a single chain to a heterodimeric form (655 aa) | |||
LTBP1 | latent transforming growth factor beta binding protein 1; May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extra cellular matrix (ECM) (1721 aa) | |||
GRID2IP | glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein; Postsynaptic scaffolding protein at the parallel fiber- Purkinje cell synapse, where it may serve to link GRID2 with actin cytoskeleton and various signaling molecules (By similarity) (1211 aa) | |||
C9orf172 | chromosome 9 open reading frame 172 (976 aa) | |||
VWA1 | von Willebrand factor A domain containing 1; Promotes matrix assembly (By similarity) (445 aa) |