EFHC2

EF-hand domain (C-terminal) containing 2 is a is_associated_with::protein that in humans is encoded by the EFHC2 is_associated_with::gene.

Gene
EFHC2 is located on the negative strand (is_associated_with::sense strand) of the is_associated_with::X chromosome at p11.3. EFHC2 is also one of a few, select number of genes with is_associated_with::in vitro evidence suggesting that it escapes is_associated_with::X inactivation. EFHC2 spans 195,796 base pairs and is neighbored by NDP, the gene encoding for is_associated_with::Norrie disease protein. Preliminary evidence based on genome wide association studies have linked a SNP in the intron between exons 13 and 14 of EFHC2 with is_associated_with::harm avoidance.

The is_associated_with::mRNA transcript encoding the EFHC2 protein is 3,269 base pairs. The first ninety base pairs compose the is_associated_with::five prime untranslated region and the last 1913 base pairs compose the is_associated_with::three prime untranslated region.

Protein
The EFHC2 gene encodes a 749-amino acid protein which contains three DM10 domains and three calcium-binding is_associated_with::EF-hand motifs.

The is_associated_with::isoelectric point of EFHC2 is estimated to be 7.13 in humans. Relative to other proteins expressed in humans, EFHC2 has fewer is_associated_with::alanine residues and a greater number of is_associated_with::tyrosine residues and is predicted to reside in the cytoplasm.

Tissue distribution
EFHC2 is widely expressed in the is_associated_with::central nervous system as well as peripheral tissues.

Clinical significance
A related protein, is_associated_with::EFHC1 is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of is_associated_with::epilepsy and that this gene may be associated with fear recognition in individuals with is_associated_with::Turner syndrome.

A is_associated_with::mutation in EFHC2 which results in a is_associated_with::serine to a is_associated_with::tyrosine substitution at amino acid position 430 (S430Y) has been associated with is_associated_with::juvenile myoclonic epilepsy in a male, German population. Additionally, a is_associated_with::single nucleotide polymorphism in EFHC2 correlates to a reduced ability of is_associated_with::Turner Syndrome patients to recognize fear in facial expressions; however, these findings remain controversial.