- gex-2 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable RNA 7-methylguanosine cap binding activity. Involved in several processes, including embryonic body morphogenesis; positive regulation of clathrin-dependent endocytosis; and positive regulation of egg-laying behavior. Located in cell junction. Part of SCAR complex. Human ortholog(s) of this gene implicated in several diseases, including Schaaf-Yang syndrome; autism spectrum disorder; and epilepsy (multiple). Is an ortholog of human CYFIP1 (cytoplasmic FMR1 interacting protein 1) and CYFIP2 (cytoplasmic FMR1 interacting protein 2).
- Slc25a37 [Search on AGR]
Homo sapiens SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]
- Abcb5 [Search on AGR]
Homo sapiens ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]
- Rab8b [Search on AGR]
Homo sapiens RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010]
- Rab1b [Search on AGR]
Homo sapiens Members of the RAB protein family, such as RAB1B, are low molecular mass monomeric GTPases localized on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB1B functions in the early secretory pathway and is essential for vesicle transport between the endoplasmic reticulum (ER) and Golgi (Chen et al., 1997 [PubMed 9030196]; Alvarez et al., 2003 [PubMed 12802079]).[supplied by OMIM, Jan 2009]
- Magel2 [Search on AGR]
Rattus norvegicus Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in several processes, including Arp2/3 complex-mediated actin nucleation; protein K63-linked ubiquitination; and retrograde transport, endosome to Golgi. Predicted to act upstream of or within positive regulation of actin nucleation. Predicted to be located in endosome. Predicted to be part of retromer complex. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in Schaaf-Yang syndrome. Orthologous to human MAGEL2 (MAGE family member L2); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; bisphenol A.
- HSP90AA2P [Search on AGR]
Homo sapiens HSP90 proteins are highly conserved molecular chaperones that have key roles in signal transduction, protein folding, protein degradation, and morphologic evolution. HSP90 proteins normally associate with other cochaperones and play important roles in folding newly synthesized proteins or stabilizing and refolding denatured proteins after stress. HSP90AA2 is a cytosolic HSP90 protein. Other HSP90 proteins are found in endoplasmic reticulum (HSP90B1; MIM 191175) and mitochondria (TRAP1; MIM 606219) (Chen et al., 2005 [PubMed 16269234]). See HSP90AA1 (MIM 140571) for further information on HSP90 proteins.[supplied by OMIM, Aug 2008]