EFHC2 - EF-hand domain containing 2 Gene

This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of Epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]
Broad expression in testis (RPKM 3.2), endometrium (RPKM 1.6) and 19 other tissues.