“EFHC2”的意思、由来-开放百科全书

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

Protein

The EFHC2 gene encodes a 749-amino acid protein which contains three DM10 domains ({{InterPro|IPR006602}}) and three calcium-binding EF-hand motifs.^[1]

The isoelectric point of EFHC2 is estimated to be 7.13 in humans.^[4] 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.^[5]^[6]

Tissue distribution

EFHC2 is widely expressed in the central nervous system as well as peripheral tissues.^[7]

Clinical significance

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^[8]^[9] and that this gene may be associated with fear recognition in individuals with Turner syndrome.^[1]

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.^[8] Additionally, a single nucleotide polymorphism in EFHC2 correlates to a reduced ability of Turner syndrome patients to recognize fear in facial expressions;^[10] however, these findings remain controversial.^[11]

Conservation in other species

References

1. ^¹²{{cite web | title = Entrez Gene: EF-hand domain (C-terminal) containing 2 | url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=80258 | accessdate = 2012-05-07 }}
2. ^{{cite journal | vauthors = Castagné R, Zeller T, Rotival M, Szymczak S, Truong V, Schillert A, Trégouët DA, Münzel T, Ziegler A, Cambien F, Blankenberg S, Tiret L | title = Influence of sex and genetic variability on expression of X-linked genes in human monocytes | journal = Genomics | volume = 98 | issue = 5 | pages = 320–6 | date = Nov 2011 | pmid = 21763416 | doi = 10.1016/j.ygeno.2011.06.009 }}
3. ^{{cite journal | vauthors = Blaya C, Moorjani P, Salum GA, Gonçalves L, Weiss LA, Leistner-Segal S, Manfro GG, Smoller JW | title = Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance | journal = Neuroscience Letters | volume = 452 | issue = 1 | pages = 84–6 | date = Mar 2009 | pmid = 19429002 | doi = 10.1016/j.neulet.2009.01.036 }}
4. ^{{cite journal | vauthors = Wilkins MR, Gasteiger E, Bairoch A, Sanchez JC, Williams KL, Appel RD, Hochstrasser DF | title = Protein identification and analysis tools in the ExPASy server | journal = Methods in Molecular Biology | volume = 112 | issue = | pages = 531–52 | year = 1999 | pmid = 10027275 | doi = 10.1385/1-59259-584-7:531 }}
5. ^{{cite journal | vauthors = Brendel V, Bucher P, Nourbakhsh IR, Blaisdell BE, Karlin S | title = Methods and algorithms for statistical analysis of protein sequences | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 89 | issue = 6 | pages = 2002–6 | date = Mar 1992 | pmid = 1549558 | pmc = 48584 | doi = 10.1073/pnas.89.6.2002 | bibcode = 1992PNAS...89.2002B }}
6. ^{{cite journal | vauthors = Horton P, Nakai K | title = Better prediction of protein cellular localization sites with the k nearest neighbors classifier | journal = Proceedings of the International Conference on Intelligent Systems for Molecular Biology | volume = 5 | issue = | pages = 147–52 | year = 1997 | pmid = 9322029 | doi = }}
7. ^{{cite journal | vauthors = Weiss LA, Purcell S, Waggoner S, Lawrence K, Spektor D, Daly MJ, Sklar P, Skuse D | title = Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome | journal = Human Molecular Genetics | volume = 16 | issue = 1 | pages = 107–13 | date = Jan 2007 | pmid = 17164267 | doi = 10.1093/hmg/ddl445 }}
8. ^¹²{{cite journal | vauthors = Gu W, Sander T, Heils A, Lenzen KP, Steinlein OK | title = A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy | journal = Epilepsy Research | volume = 66 | issue = 1-3 | pages = 91–8 | year = 2005 | pmid = 16112844 | doi = 10.1016/j.eplepsyres.2005.07.003 }}
9. ^{{cite journal | vauthors = 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 | title = Mutations in EFHC1 cause juvenile myoclonic epilepsy | journal = Nature Genetics | volume = 36 | issue = 8 | pages = 842–9 | date = Aug 2004 | pmid = 15258581 | doi = 10.1038/ng1393 }}
10. ^{{cite journal | vauthors = Rodriguez-Revenga L, Madrigal I, Alkhalidi LS, Armengol L, González E, Badenas C, Estivill X, Milà M | title = Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy | journal = American Journal of Medical Genetics Part A | volume = 143A | issue = 9 | pages = 916–20 | date = May 2007 | pmid = 17431911 | doi = 10.1002/ajmg.a.31521 }}
11. ^{{cite journal | vauthors = Zinn AR, Kushner H, Ross JL | title = EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome | journal = American Journal of Medical Genetics Part B | volume = 147B | issue = 4 | pages = 507–9 | date = Jun 2008 | pmid = 17948898 | doi = 10.1002/ajmg.b.30625 }}