EAR (IPR009039)

Short name: EAR


Most of the hereditary idiopathic epilepsies are due to mutation in ion channels expressed in brain. Recently two non-ion channel genes LGI1 and VGLR1 have emerged as important causes of specific epilepsy syndromes. The product of these two genes share a conserved repeated region of about 44 amino acid residues, the EAR domain (for epilepsy-associated repeat) [PMID: 12095917].

The predicted secondary structure (four beta-strands) and the numbers of repeated copies (seven) suggest that the EAR domain belongs to the beta-propeller fold. A common functional feature found in all characterised domains of this class is a participation in protein-protein interactions. Since the EAR repeat is found in the ectodomain of VLGR1, it is most probably involved in ligand recognition by the receptor [PMID: 12095917].

Proteins known to contain EAR repeats are listed below:

  • Mammalian LGI1 to LGI4. LGI1 is mutated in autosomal dominant partial epilepsy with auditory features (ADPEAF). The F348C missense mutation is located in the third EAR repeat (7 copies).
  • Mammalian thrombo-spondin N-terminal domain and EAR repeats containg protein (TSPEAR) (7 copies).
  • Mammalian very large G protein-coupled receptor 1 (VGLR1) or monogenic audiogenic seizure-susceptible (MASS1) protein. In mouse, mutations in MASS1 gene are associated with generalized epilepsy and seizures in response to loud noises (7 copies) [PMID: 11545713].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PROSITE profiles