Aliases for EHD2 Gene
External Ids for EHD2 Gene
Previous HGNC Symbols for EHD2 Gene
Previous GeneCards Identifiers for EHD2 Gene
This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008]
GeneCards Summary for EHD2 Gene
EHD2 (EH Domain Containing 2) is a Protein Coding gene. Diseases associated with EHD2 include Retinitis Pigmentosa 70. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Endocytosis. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and GTP binding. An important paralog of this gene is EHD3.
UniProtKB/Swiss-Prot Summary for EHD2 Gene
ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (By similarity). Plays a role in membrane trafficking between the plasma membrane and endosomes (PubMed:17233914). Important for the internalization of GLUT4. Required for fusion of myoblasts to skeletal muscle myotubes. Required for normal translocation of FER1L5 to the plasma membrane (By similarity). Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by constraining caveolae at the cell membrane (PubMed:25588833).