EFHC2 is located on the negative strand (sense strand) of the X chromosome at p11.3. EFHC2 is one of a few, select number of genes with in vitro evidence suggesting it escapes X inactivation.[7]EFHC2 spans 195,796 base pairs and is neighbored by NDP, the gene encoding for 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 harm avoidance.[8]
The schematic shows key features of the protein encoded by the EFHC2 gene in humans. "DUF" refers to "domain of unknown function."
The EFHC2 gene encodes a 749-amino acid protein which contains three DM10 domains (InterPro:IPR006602) and three calcium-binding EF-hand motifs.[5]
The isoelectric point of EFHC2 is estimated to be 7.13 in humans.[9] Relative to other proteins expressed in humans, EFHC2 has fewer alanine residues and a greater number of tyrosine residues and is predicted to reside in the cytoplasm.[10][11]
A related protein, EFHC1 is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy[6][13] and that this gene may be associated with fear recognition in individuals with Turner syndrome.[5]
A mutation in EFHC2 which results in a serine to a tyrosine substitution at amino acid position 430 (S430Y) has been associated with juvenile myoclonic epilepsy in a male, German population.[6] Additionally, a single nucleotide polymorphism in EFHC2 correlates to a reduced ability of Turner syndrome patients to recognize fear in facial expressions;[14] however, these findings remain controversial.[15]
1 2 3 Gu W, Sander T, Heils A, Lenzen KP, Steinlein OK (2005). "A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy". Epilepsy Research. 66 (1–3): 91–8. doi:10.1016/j.eplepsyres.2005.07.003. PMID16112844. S2CID25572315.
↑ Horton P, Nakai K (1997). "Better prediction of protein cellular localization sites with the k nearest neighbors classifier". Proceedings. International Conference on Intelligent Systems for Molecular Biology. 5: 147–52. PMID9322029.
↑ Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K (Aug 2004). "Mutations in EFHC1 cause juvenile myoclonic epilepsy". Nature Genetics. 36 (8): 842–9. doi:10.1038/ng1393. PMID15258581. S2CID32916803.
↑ Rodriguez-Revenga L, Madrigal I, Alkhalidi LS, Armengol L, González E, Badenas C, Estivill X, Milà M (May 2007). "Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy". American Journal of Medical Genetics Part A. 143A (9): 916–20. doi:10.1002/ajmg.a.31521. PMID17431911. S2CID36917690.
↑ Zinn AR, Kushner H, Ross JL (Jun 2008). "EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome". American Journal of Medical Genetics Part B. 147B (4): 507–9. doi:10.1002/ajmg.b.30625. PMID17948898. S2CID36643937.
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