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FLASH GENE
Symbol EHD2 contributors: mct/npt/pgu - updated : 09-12-2013
HGNC name EH-domain containing 2
HGNC id 3243
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a nucleotide-binding consensus site at the N terminus, and N-terminal region may regulate the availability of the unstructured loop for interactions with neighboring EHD2 dimers, thus promoting oligomerization
  • N-terminal P-loop and an ATPase domain
  • an EPS15 (EHD) protein binding domain, which facilitates canonical EHD protein interactions, was not required to direct overexpressed EHD2 to the cell surface
  • a bipartite nuclear localization signal
  • an unstructured loop consisting of two proline-phenylalanine (PF) motifs: KPFRKLNPF
  • a C-terminal EH domain; the EH domain is an EF hand-like structure that interacts with proteins containing an asparagine-proline-phenylalanine (NPF) motif
  • mono polymer homomer , dimer , oligo
    HOMOLOGY
    interspecies homolog to rattus Ehd2 (97.1 pc)
    homolog to murine Ehd2 (96.7 pc)
    intraspecies paralog to EHD1, EHD3, EHD4
    Homologene
    FAMILY
  • Eps15 homology domain-containing protein family
  • CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,nucleus
    text
  • colocalized with GLUT4 in intracellular tubulovesicular structures that are associated with cortical actin filaments
  • cytoplasmic side
  • endosome membrane
  • shuttles to the nucleus and represses transcription
  • localizes to the inner leaflet of the plasma membrane
  • basic FUNCTION
  • participating in the clathrin-mediated endocytic machinery
  • also potentially involved in signal transduction pathways, downstream of receptor tyrosine kinases
  • playing a role in membrane reorganization in response to nucleotide hydrolysis
  • deforming liposomes into tubules
  • playing a role in membrane trafficking between the plasma membrane and endosomes
  • being important for the internalization of GLUT4
  • required for normal fusion of myoblasts to skeletal muscle myotubes
  • regulate the exit of cargo from the recycling endosome
  • colocalize with vesicular and tubular structures, implying roles in transport processes and cytoskeletal dynamics and interact with specific phospholipids
  • required for normal translocation of FER1L5 to the plasma membrane
  • EHD proteins and ferlin proteins form discrete structures in myoblasts
  • regulates trafficking from the plasma membrane and recycling
  • has a role in nucleotide-dependent membrane remodelling and its ATP-binding domain is involved in dimerization, which creates a membrane-binding region
  • plasma-membrane-associated member of the EHD family that regulates internalization
  • EHD1 and EHD3 control traffic to the endocytic recycling compartment (ERC) and from the ERC to the plasma membrane, while EHD2 modulates internalization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS endocytosis transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, nucleotide,
  • ATP
  • Ca2+
  • protein
  • associating with the AP2 adaptor protein complex to initiate endocytic vesicle formation
  • connecting endocytosis to the actin cytoskeleton through interactions of its N-terminal domain with membranes and its C-terminal EH domain with EHBP1
  • interacting with Asn-Pro-Phe (NPF) motifs in target proteins
  • Myoferlin (MYOF) directly interacts with EHD2
  • interacting with EHD1
  • may also interact with EHD3 and EHD4
  • FER1L5 binds directly to the endocytic recycling proteins EHD1 and EHD2 and the second C2 domain in FER1L5 mediates this interaction
  • regulates trafficking from the plasma membrane by controlling RAC1 activity
  • role of INPP5J in regulating EHD2 plasma membrane localization
  • cell & other
  • binding to liposomes
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    loss of EHD2 function exerts its effect through multiple ferlin family members
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS