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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
Location 19p13.32      Physical location : 48.216.600 - 48.246.390
Synonym name EPS15 homology (EH) domain family member 2
Synonym symbol(s) PAST2, FLJ96617
DNA
TYPE functioning gene
STRUCTURE 29.79 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
GRLF1 19q13.3 glucocorticoid receptor DNA binding factor 1 NPAS1 19q13.2-q13.3 neuronal PAS domain protein 1 FLJ20512 19q13.33 hypothetical protein FLJ20512 C19orf7 19q13.33 chromosome 19 open reading frame 7 SAE1 19q13.33 SUMO-1 activating enzyme subunit 1 BBC3 19q13.3-q13.4 BCL2 binding component 3 DKFZP586M1019 LOC255783 19q13.33 hypothetical protein LOC255783 C5R1 19q13.3-q13.4 complement component 5 receptor 1 (C5a ligand) GPR77 19q13.33 G protein-coupled receptor 77 DHX34 19q13.3 DEAH (Asp-Glu-Ala-His) box polypeptide 34 MRG2 KPTN 19q13.3 kaptin (actin binding protein) NAPA 19q13.3 N-ethylmaleimide-sensitive factor attachment protein, alpha DKFZp434I1930 GLTSCR1 19q13.3 glioma tumor suppressor candidate region gene 1 EHD2 19p13.3 EH-domain containing 2 GLTSCR2 19q13.3 glioma tumor suppressor candidate region gene 2 SEPW1 19q13.3 selenoprotein W, 1 LOC390949 19 similar to 60S ribosomal protein L23a FLJ40321 19q13.33 FLJ40321 protein CRX 19q13.3 cone-rod homeobox SULT2A1 19q13.3 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA) -preferring, member 1 ELSPBP1 19q13.33 epididymal sperm binding protein 1 CABP5 19q13.3 calcium binding protein 5 PLA2G4C 19q13.3 phospholipase A2, group IVC (cytosolic, calcium-independent) LIG1 19q13.3 ligase I, DNA, ATP-dependent LOC374920 19q13.33 hypothetical protein LOC374920 CARD8 19q13.33 caspase recruitment domain family, member 8 MGC17986 19q13.33 hypothetical protein MGC17986 FLJ32926 19q13.33 hypothetical protein FLJ32926 EMP3 19q13.3 epithelial membrane protein 3 FLJ10922 19q13.33 hypothetical protein FLJ10922 SYNGR4 19q13.3 synaptogyrin 4 KDELR1 19q13.2-q13.3 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 GRIN2D 19q13.1-qter glutamate receptor, ionotropic, N-methyl D-aspartate 2D GRWD1 19q13.33 glutamate-rich WD repeat containing 1 KCNJ14 19q13 potassium inwardly-rectifying channel, subfamily J, member 14 PSCD2 19q13.3 pleckstrin homology, Sec7 and coiled-coil domains 2 (cytohesin-2) KIAA1883 SULT2B1 19q13.3 sulfotransferase family, cytosolic, 2B, member 1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 3601 61 543 - 2004 14676205
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
 vessel   moderately
Digestivemouth   highly
 salivary gland   moderately
Lymphoid/Immunespleen   moderately
Reproductivefemale systemplacenta  moderately
 female systemuterus  highly
Respiratorylung   moderately
 respiratory tracttrachea  highly
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connective   moderately
Muscularstriatumskeletal   Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
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