Your Input:
|
||||
EIF2C2 | eukaryotic translation initiation factor 2C, 2; Required for RNA-mediated gene silencing (RNAi) by the RNA-induced silencing complex (RISC). The ’minimal RISC’ appears to include EIF2C2/AGO2 bound to a short guide RNA such as a microRNA (miRNA) or short interfering RNA (siRNA). These guide RNAs direct RISC to complementary mRNAs that are targets for RISC- mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due [...] (859 aa) | |||
TGFB1 | transforming growth factor, beta 1; Multifunctional protein that controls proliferation, differentiation and other functions in many cell types. Many cells synthesize TGFB1 and have specific receptors for it. It positively and negatively regulates many other growth factors. It plays an important role in bone remodeling as it is a potent stimulator of osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts (390 aa) | |||
FYTTD1 | forty-two-three domain containing 1 (318 aa) | |||
BMP4 | bone morphogenetic protein 4; Induces cartilage and bone formation. Also act in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity) (408 aa) | |||
CHCHD3 | coiled-coil-helix-coiled-coil-helix domain containing 3; Required for maintenance of mitochondrial crista integrity and mitochondrial function. May act as a scaffolding protein that stabilizes protein complexes involved in crista architecture and protein import. Has also been shown to function as a transcription factor which binds to the BAG1 promoter and represses BAG1 transcription (227 aa) | |||
COPE | coatomer protein complex, subunit epsilon; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; t [...] (308 aa) | |||
TCF25 | transcription factor 25 (basic helix-loop-helix); May play a role in cell death control. Acts as a transcriptional repressor. Has been shown to repress transcription of SRF in vitro and so may play a role in heart development (676 aa) | |||
ALMS1 | Alstrom syndrome 1; Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells (4167 aa) | |||
BMP3 | bone morphogenetic protein 3; Negatively regulates bone density. Antagonizes the ability of certain osteogenic BMPs to induce osteoprogenitor differentitation and ossification (472 aa) | |||
CCDC8 | coiled-coil domain containing 8 (538 aa) | |||
TMEM43 | transmembrane protein 43; May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity) (400 aa) | |||
CHRM1 | cholinergic receptor, muscarinic 1; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover (460 aa) | |||
CHRM2 | cholinergic receptor, muscarinic 2; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is adenylate cyclase inhibition (466 aa) | |||
HTR7 | 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase (479 aa) | |||
GPRASP2 | G protein-coupled receptor associated sorting protein 2; May play a role in regulation of a variety of G-protein coupled receptors (838 aa) | |||
CALCR | calcitonin receptor; This is a receptor for calcitonin. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. The calcitonin receptor is thought to couple to the heterotrimeric guanosine triphosphate-binding protein that is sensitive to cholera toxin (508 aa) | |||
ADRB1 | adrenoceptor beta 1; Beta-adrenergic receptors mediate the catecholamine- induced activation of adenylate cyclase through the action of G proteins. This receptor binds epinephrine and norepinephrine with approximately equal affinity (477 aa) | |||
BTRC | beta-transducin repeat containing E3 ubiquitin protein ligase; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds to phosphorylated target proteins. SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in Wnt signaling. SCF(BTRC) mediates the ubiquitination of NFKBIA, NFKBIB and NFKBIE; the degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription. Ubiquitination of N [...] (605 aa) | |||
BMP8B | bone morphogenetic protein 8b; Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity) (402 aa) | |||
EIF2C1 | eukaryotic translation initiation factor 2C, 1; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) or short interfering RNAs (siRNAs), and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for transcriptional gene silencing (TGS) of promoter regions which are complementary to bound short antigene RNAs (agRNAs) (857 aa) | |||
ENSG00000204393 | Putative uncharacterized protein MGC163334 (140 aa) | |||
HRH2 | histamine receptor H2; The H2 subclass of histamine receptors mediates gastric acid secretion. Also appears to regulate gastrointestinal motility and intestinal secretion. Possible role in regulating cell growth and differentiation. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and, through a separate G protein-dependent mechanism, the phosphoinositide/protein kinase (PKC) signaling pathway (By similarity) (397 aa) | |||
BMP2 | bone morphogenetic protein 2; Induces cartilage and bone formation (396 aa) | |||
AP1G1 | adaptor-related protein complex 1, gamma 1 subunit; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules (825 aa) | |||
PNPLA6 | patatin-like phospholipase domain containing 6; Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy (1375 aa) | |||
LMNB2 | lamin B2; Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin (600 aa) |